Fun I Test 3

Front 1

CARTILAGE AND BONE

Back 1

the following cards will be of cartilage and bone

Front 2

Cartilage:
1. What kind of tissue?
2. Cells are called what?
3. Vascular or not?
4. The main kind of collagen:

Back 2

1. Connective
2. Chondrocytes
3. Avascular
4. Collagen II

Front 3

Perichondrium:
1. what is it?
2. Outer layer
3. Inner layer
4. perichondrium has two functions:
5. What king of collagen is expressed?
6. other than collagen what else does it express?

Back 3

1. a specialized layer of fibroblasts surrounding the cartilage
2. Fibrous
3. Chondrogenic
4. signaling center for regulating endochondrial bone formation
source of chondrogenic and osteogenic cells
5. type I and III
6. proteoglycans

Front 4

Matrix
1. what is the general property?
2. allows cartilage to...

Back 4

1. firm but pliable, like rubber
2. take compressive loads, like when running or jumping

Front 5

The growth and repair of all types of adult cartilage is limited. Why?

Back 5

Few cells, avascular

Front 6

What are the three types of cartilage?

Back 6

Hyaline cartilage
Fibrocartilage
Elastic Cartilage

Front 7

Hyaline cartilage
1. how common?
2. often found where?
3. what kind of forces does it take?

Back 7

1. Most common
2. articular cartilage, joint surfaces
3. compressive forces

Front 8

Fibrocartilage
1. Mainly found where?
2. what kind of forces does it take?
3. What does it act as in intervertebral discs?

Back 8

1. intervertebral discs and meniscus
2. compressive and shearing forces
3. a shock absorber

Front 9

Elastic cartilage
1. where found?
2. what is it's property?

Back 9

1. external part of ear
2. flexible

Front 10

Hyaline Cartilage (in depth)
1. What comprises most of its weight?
2. Matrix consists primarily of what?
3. What is the most common proteoglycan?
4. How much of weight is cells?
5. How would you describe most of what cartilage really is?
6. If you had one adjective to describe Cartilage Matrix, what would it be?

Back 10

1. Water 60-80%
2. Collagen. Type II is most common, but there is also type IX and XI
3. Aggrecan. It traps water within matrix
4. 5%. Cells are important, they synthesize the matrix
5. Water and matrix
6. SPECIALIZED.

Front 11

Collagen
1. Which types are in cartilage?
2. Which collagen do all types of collagen express?
3. Collagen is arranged in what orientation? Why is this important?

Back 11

1. Types II (exclusive)
IX, XI, VI
2. II
3. Random arrays. It helps with the forces that cartilage sustains in all different directions

Front 12

Collagen orientation:
1. Of the fibers in collagen, which are the longest?
2. What do type IX and XI do?
3. What are the globular domains for?

Back 12

1. Type II
2. Help stabilize Type II.
3. to attach collagens to other proteins in the matrix, like proteoglycans or cells

Front 13

Proteoglycans
1. Collagen is a huge ECM component in cartilage. What is the other one?
2. Structure of proteoglycans
3. What is the most abundant proteoglycan in cartilage?
4. What gives matrix a high affinity for water?
5. Aggrecans form complexes with what?

Back 13

1. Proteoglycans
2. Protein core made of amino acids, with large GAGs attached
3. Aggrecan
4. huge negative charge
5. hyaluronan

Front 14

How do aggrecan core proteins attach to hyaluronan?

Back 14

link proteins

Front 15

Structure of Aggrecan:
1. What is in the middle?
2. What are the comb extensions sticking out of the side?
3. What are examples of #2, in aggrecan?
4. How is the core protein linked to the GAGs?
5. what exactly causes the high negative charge of the GAGs?

Back 15

1. Aggrecan core protein
2. GAGs
3. Chondrotin sulfate, keratan sulfate
4. . linking sugars
5. sulfate groups

Front 16

What is the most important function of cartilage?

Back 16

ability to take pressure and revert back to normal shape

water is squished out of matrix like a sponge when compressed, but water rushes back into matrix when the matrix is relieved due to the electrostatic interactions of proteoglycans

Front 17

Proteoglycans:
1. Intramolecular + intermolecular =

Back 17

1. large molecular domains

smaller domain but increased charge density

Front 18

What are clusters of chondrocytes called?

How are they related?

How are they moving around?

Back 18

Isogenous groups

They are clones of each other

They're really not, they are stuck in the matrix. As matrix grows, cells move apart

Front 19

What does type VI collagen in cartilage do?

Back 19

Attaches cells to matrix

Front 20

Ununiformity in staining
1. what does dark staining mean?
2. What is darkest staining called? Where is it at?
3. What is intermediate staining called? Where is it at?4. What is light staining called? Where is it at?

Back 20

1. high concentration of sulfated proteoglycans
2. pericullular staining, right outside isogenous group
3. isogenous groups have intermediate staining within. territorial matrix.
4.interterritorial matrix, in between isogenous groups

Front 21

How cartilage grows
1. Interstitial growth
2. Appositional growth

Back 21

1. Isogenous groups are clustered together. As each cell spits out more matrix, cells move away from each other, and cartilage as a whole grows
2. Growth occurs from outside of cartilage. Occurs through chondrogenic perichondrium

Front 22

Articular cartilage:
1. What is the most common permanent cartilage?
2. Where is it found?
3. What kind of cartilage is it?
4. What are the two functions of articular cartilage?

Back 22

1. Articular cartilage
2. joint surfaces, primarily synovial joints, longbone joints, elbow knee
3. hyaline
4. provide scaffold for endochondral bone formation
provide mechanical properties needed for running and jumping

Front 23

Articular cartilage:
is it transient?

Back 23

NO. It is permanent.

Most cartilage provdes a model for the developing skeleton: endochondral bone formation.

Front 24

Is articular cartilage surrounded by perichondrium?

Back 24

No

Front 25

Four zones of articular cartilage?
1. Tangential / superficial zone
2. transitional / intermediate zone
3. radial layer / deep zone
4. calcified cartilage

Back 25

1. cell and collagen matrix lay parallel to surface of bone, important for shearing forces
2. collagen molecules are randomly associated, takes compressive forces from different directions
3. collagen is now perpendicular to surface of the bone, parallel to long axis of bone
4. tidemark is th eline between the radial layer and calcified cartilage

Front 26

Arthritis:
1. Rheumatoid
2. Osteoarthritis

Back 26

1. Caused by inflammation
autoimmune disease that destroys articular cartilage
2. disease of cartilage caused by wear and tear, direct breakdown. Not caused by inflammation. Could lead to inflammation though.

Front 27

Meniscectomy:
Removal of the meniscus causes cartilage on cartilage rubbing.
1. The damage the cartilage sustains, is it easily repaired?
2. When cartilage does repair itself, does it become normal type II hyaline cartilage?

Back 27

1. No. Cartilage is avascular and has few cells.
2. No, it's more like scar tissue. Does not get back proteoglycans. Cannot attract water.

Front 28

Treatments for osteoarthritis and repair:
1. Small molecule drugs and devices
2. Peptide drug delivery
3. tissue transplants and engineered tissue

Back 28

1. GAGs and chondroitin sulfate
Hyaluronic acid - can be injected to act as a lubricant
MMP inhibitors
2. Virus, cells, Systemic
3. yeahhhhh

Front 29

Elastic Cartilage
1. what stain to view these?
2. Cell secrete normal cartilage proteins ANDDDD
3. Where is elastic cartilage found?

Back 29

1. Orcein. Elastin fibers appear brown or black
2. elastin fibers!
3. outer ear

Front 30

Fibrocartilage
1. a mixture of chondrocytes and...

Back 30

1. fibroblasts

Front 31

BONE

Back 31

Now we are going to talk about bone

Front 32

what is the mineral associated with bone?

Back 32

Hydroxyapatite

Ca10(PO4)6(OH)2

CAPOOH!
10 6 2

Front 33

Is a bone an organ?

Back 33

Yes, they are the organs of the skeletal system

Front 34

bone matrix primarily contains what kind of collagen?

Back 34

type I

Front 35

Organization:
1. Bone is organized into units called...
2. Does bone have vasculature?
3. Is the haversian canal innervated?
4. Where do cells line up to lay down some matrix?
5. What kind of cytes make up osteon structure / bone?

Back 35

1. osteons
2. Yes
3. YES
4. Around the canal
5. osteocytes

Front 36

Osteocytes
1. what do you call the little house they live in?
2. What connects the lucuna together to allow cells to contact each other?
3. What are the concentric circles of matrix called?

Back 36

1. Lacuna
2. cannaliculi
3. lamellae

Front 37

Two structural categories of bone:
1. Compact bone
2. Spongy bone

Back 37

1. aka cortical bone aka dense bone. Cortical bc it is toward the outside of the bone. Dense bc its dense
2. aka trabecular or cancellous bone.
MIXED WITH MARROW CAVITY

Front 38

Bone structure
1. name of end of the bone
2. name of middle, long part of bone
3. Name of part in between middle and end

Back 38

1. epiphysis - where articular cartilage is at
2. diaphysis. less trabecular, more marrow. trabecular bone increases as you move towards the end of the bone
3. metaphysis, the growth plate

Front 39

What surrounds the bone?

Back 39

The periosteum - specialized fibrous tissue

Front 40

How to increase strength of bone unit?

How to connect blood supply of haversian canals?

Back 40

1. lay down collagen matrix in different directions

2. through volkmann's canal

Front 41

Blood supply through bone is centrifugal
1. main arteries go through bone and into
2. Blood comes out how?

Back 41

1. center of bone, the marrow
2. through capillaries of haversian canal

Front 42

Osteoprogenitor cells, osteoblasts, osteocytes, bone lining cells are all derived from where?

Osteoclasts are derived what kidn of cells?

Back 42

1. mesenchymal stem cells from bone or meristroma

2. hematopoeitic

Front 43

Which cells line the inside of the bone?

they may group together to form what?

What is the inside of the bone called?

May also line the outside of the bone and originate from the...

Back 43

1. osteoprogenitor cells, osteoblasts, bone lining cells

2. endosteal cells

3. the endostium!

4. perichondrium (maybe periosteum?)

Front 44

1. where do little osteoblasts come from?

2. Shape of osteoprogenitors? Do they secrete matrix?

3. What are the two fates of osteoblasts?

4. how to identify osteoblasts?

Back 44

1. Osteoprogenitor cells!

2. flat, they do not secrete matrix

3. can become trapped in bone matrix and become osteocytes, or hang out on surface of bone and be called bone lining cells

4. round, and tons of RER

Front 45

Osteoprogenitor cells can reside where?

Back 45

Meristroma, perichondrium

?? what is a meristroma?

Front 46

What is the chondrocyte regulation factor for osteoprogenitor cells?

What is the Osteoblast regulation factor for osteoprogitor cells?

Back 46

1. SOX9 ('cause articular cartilage is kind of like a sock)

2. Runx2 (cause to lay down bone sometimes you must run)

Front 47

What do osteoblasts secrete, specifically?

but they also secrete something to begin mineralization, called

Back 47

Osteoid, which is unmineralized bone matrix

matrix vesicles, required to nucleate mineralization

Front 48

Osteoclast
1. Size? Nucleated how?
2. Derived from what kind of cell?

Back 48

1. Large, multinucleated
2. hematopoietic cells

Front 49

Osteoclast: Basic Structure
1. Ruffled Border
2. Clear zone
3. Resorption Pit

Back 49

1. bulb of membrane that dig down into bone
2. area of actin filaments and adhesion proteins, acts as a suction cup to hook the cell down onto the matrix
3. formed by clear zone, its a compartment underneath that acid and proteases can be secreted into

Front 50

Osteoclasts: how they resorb bone
1. Secrete protons
2. Secrete proteases
3. Exocytose the product

Back 50

1. acidifies the matrix and surround microenvironemtn
2. metalloproteases, cathepsin K
3. debris is taken up by osteoclast as vesicles, digested material is transported through cell and exocytosed out the back end

Front 51

From hematopoietic cell to Osteoclast
1. Differentiation is couple to what?
2. Osteoblasts produce what, initially? what does this do?
3. Macrophages express what on their surface?
4. Now, osteoblasts synthesize what? which does what?
5. What is the sequence for osteoclast differentiation?
6. Osteoblasts also synthesize what? which does what?

Back 51

1. Osteoblast activity
2. M-CSF - Macrophage colony stimulating factor. Makes monocytes turn into macrophages
3. RANK - receptor for activation of nuclear factor kappa B
4. RANKL - binds to RANK, stimulates differentiation of the macrophages into osteoclasts
5. Macrophage --> osteoclast precursor --> resting osteoclast --> functional osteoclast
6. OPG - glycoprotein that binds to RANKL with greater affinity than RANK receptor. it's a decoy binding protein. a natural inhibitor of osteoclast formation, could be potentially used to treat osteoporosis

Front 52

When bone is first made, what is it called?

Back 52

immature or woven bone

Front 53

Mature bone is remodeled how often?

Back 53

Constantly.

Mature bone has organized system of haversian canals and concentric circles of matrix surrounding it

Front 54

Bone remodeling:
1. What cell works first?
2. What cell works second?
3. What does the second cell secrete?
4. Waht is the cutting cone?

Back 54

1. osteoclast! chews up bone
2. osteoblast! secretes osteoid
3. osteoid
4. osteocytes go through first and make a 'pipe' then osteoblasts go through and close the pipe, gives the appearance of a cone

Front 55

Embryonic origins of the skeleton:
1. mesoderm: paraxial
2. mesoderm: lateral plate
3. mesoderm: cephalic
4. ectoderm

Back 55

1. forms somites which forms all connective tissues of axial skeleton, like ribs, vertebrate, intervertebral discs
2. appendicular skeleton
3. forms cranial bones that are not derived from neural crest
4. derived from neural crest cells that migrate away from ectoderm into specific parts of the face

Front 56

Intramembraneous bone formation
1. Does this occur in well vascularized mesenchyme?
2. sequence of events:

Back 56

1. Yes! No cartilage here

2. First you have mesenchymal tissue, undifferentiated.

Mesenchymal cells aggregate together, pack tightly together

Cells then differentiate directly onto osteoid producing osteoblasts

form primary bone tissue

lay down the osteoid

while some osteobalsts will get trapped by matrix and become osteocytes, most cells will surround and perform appositional growth

Front 57

Endochondral bone formation:
1. is the mesenchyme this bone forms in vascularized?
2. mesenchyme cells condense and differentiate into 3. what is the source of growth factors?
4. Where is the primary ossification center?

Back 57

1. no. its all about some cartilage
2. chondrocytes, that then go and lay down some matrix
3. the surrounding perichondrium
4. in the middle of the bone

Front 58

Endochondral bone formation:
1. how does vascularature get there?
2. what mineralized the matrix?
3. then hypertrophic chondrocytes die. What happens next?
4. outline of events
5. what forms in the epiphysis sometime after birth?

Back 58

1. hypertrophic cells send vascular endothelial cell growth factor
2. hypertrophic cells
3. then come in the osteoprogenitor cells, from vasculature and perichondrium, like a BOSS and lay down some bone matrix
4. cells become hypertrophic, matrix mineralizes, cells die off, bone replaces cartilage
5. the SECONDARY OSSIFICATION CENTER

Front 59

bone collar
What is it

Back 59

a type of intramembraneous bone formation within the limb

Front 60

Longitudinal growth
1. what is it?
2. what's equation?
3. what are three ways to get it?

Back 60

1. skeletal element gets longer
2. = proliferation + hypertrophic differentiation + ECM
3. cells in rapidly proliferating zone causes more cells
cells undergo hypertrophic differentiation so they themselves get bigger
cells laying down matrix

Front 61

Will growth plate eventually run out of cartilage?

will all of the chondrocytes undergo hypertrophic differentiation?

will all of the matrix be mineralized?

Back 61

1. Yes

yes


yes

Front 62

regulating the growth plate
1. FGF (fibroblast growth factor)

Back 62

22 peptides in FGF family

singal through tyrosine kinase receptors. there are 4 types of fgf receptors

mutations in FGF singaling family and receptors are one of the leading causes of skeletal related birth defects

Front 63

Achondroplasia
1. how common?
2. What kind of birth detect, or, what is the activating mutation in?
3. mutation inhibits cells where?
4. Causes what to be short?
5. why?
6. what does it look like?

Back 63

1. most common disease associated with FGF
2. FGF receptor 3
3. growth plate
4. limbs
5. FGFR3 doesn't affect axial skeleton, only limbs
6. disproportionate shorting of limbs. rhizomelic shortening, more marked in upper arms and upper legs. prominent forehead (frontal bossing). depressed nasal bridge

Front 64

PTHrP
1. Mutation in regulator PTHrp inhibits what?
2. Jansen type metaphyseal chondrodysplasia
3. Blomstrand lethal chondrodysplasia

Back 64

1. hypertrophic differentiation
2. activating mutagen in PTH/PTHrP receptor
3. Inactivating mutation, accelerated hypertrophic differentiation, when they are born, all of their gorwth plates have closed
all cell shave become hypertrophic, lethal cause rib cage can't expland, organelles still grow

Front 65

Growth Hormone
1. what kind of hormone?
2. produced by what?
3. regulates the expression of a second growth factor

Back 65

1. peptide hormone
2. pituitary gland
3. ILGF

Front 66

does ILGF act systemically or locally?

Back 66

BOTH

Front 67

Growth hormone and ILGF:
what do they stimulate?

Back 67

chondrocyte growth and elongation of the the growth plate

Front 68

Growth hormon imbalances:
Deficienies

Back 68

isometric short stature, entire body is shorter in same proportions
mutations can be in pit 1, prop 1, trancription factors, GHRH, or GH itslef
treatment with exogenous gH will cause patients to resume growth

Front 69

Growth hormone imbalances:
Resistance

Back 69

Isometric short statue
mutation is GHR or IGF which are downstream
no treatment. can't give them GH, receptors are unresponsive

Front 70

Growth hormone imbalances:
Excess

Back 70

Tall stature
usually due to cancers in the pituitary galnd

Front 71

Fracture healing: 2 types of bone repair
1. standard
2. distraction osteogenesis

Back 71

1. for small crack or fracture in bone. goes through cartilage model
2. large piece of bone is missing, occurs through intramembranous model

Front 72

Repair: standard, cartilage model
1. fracture stimulates cells from where?
2. Callus will form of what kind of cartilage?
3. callus undergoes what?
4. how long before callus is resolved?

Back 72

1. periosteium
2. hyaline cartilage
3. endochondral formation of bone
4. many years. this is why you can see where a person broke their bone many years earlier on an xray

Front 73

repair: distraction osteogenesis intramembranous model
1. involves a lot of blood? not a lot of blood? going where?
2. ITS CRAZY

Back 73

THIS IS JUST CRAZY YALL DON'T EVEN LOOK AT THE SLIDDDDDE3 WHO WOULD DO THIS IT'S JUST CRAY CRAYZYYYY

Front 74

EMBRYOGENESIS

Back 74

how little tiny babies are made

Front 75

What happens during:
1. First week
2. Second week
3. Third week
4. Fourth week

Back 75

1. Fertilization occurs
2. Uterine implantation
3. Embryo forms 3 germ layers
4. Neogenesis

Front 76

1. Where is embryo fertilized?
2. Once zygote moves out of fallopian tube and into uterus, it undergoes...
3. Once in uterus, hatch out of what? then do what?

Back 76

1. ampulla of fallopian tube
2. division, compaction into morula, then blastocyst
3. zona pellucida, implant in uternine wall

Front 77

Oocyte development:
1. How many oocytes does mom have when born?
2. How many oocytes are good for reproductive life?
3. Where do oocytes mature?
4. What do they do first?
5. Must they supply their own nutrients?
6. Follicular cells
7. follicle
8. Once oocyte has sufficient size, first it will undergo meiosis I, then it will arrest in...
9. what percentage of germ cells die?

Back 77

1. 2 million
2. around 450
3. the ovary
4. grow in size (meiotic prophase) accumulating nutrients and synthesized RNA
5. yes. Independent from the mother
6. somatic support cells around oocyte
7. oocyte + follicular cells
8. well, before meiosis 2. won't proceed with meiosis 2 until fertilization
9. 99.9 % (apoptosis).

Front 78

1. What is the mature follicle called?
2. What regulates meiosis and oocyte growth?
3. what regulates development of surround granulosa cells?

Back 78

1. Graffian follicle
2. granulosa cells
3. the oocyte!

Front 79

Sperm:
1. What do sperm have to help it move?
2. What other orgranelles does it have?
3. develop with what kind of support cells? where?
4. Testis development in the male generally occurs in the..

Back 79

1. Tails! made of microtubules.
2. Mitochondria and nucleus
3. Sertoli cells in the seminiferous tubules
4. absence of germ cells

Front 80

Gamete structure: Sperm
1. What four pieces, and what do they contain?
2. Acrosome
3. Tail microtubules have what structure?
4. Infertility often due to defects in...
5. How much sperm in an ejaculate?
6. How much contact the egg?

Back 80

1. head: large nucleus, acrosome
neck: contains centriole (MTOC: creates mitotic spindle during division)
Midpiece: mitochondria for movement
Tail: 9+2 arrangement of microtubules

Front 81

Oocyte:
1. Zona pellucida
2. Corona Radiata
3. How long is it viable after explusion from follicles?
4. Fertilized within how many hours of expulsion?

Back 81

1. thick layer of ECM surrounding oocyte
2. layer of cumulus cells that covers ZP
3. within 12 hours

Front 82

The Travels of Sperm!
1. What is their route?
2. How long can they survive in the cervical mucus?

Back 82

1. vagina, cervix, uterus, fallopian tubes, egg
2. 3 days

Front 83

Capacitation:
1. what does it do?
2. what surface does it affect?
3. what are the changes to the acrosome membrane composition?
4. Molecular pathway for capacitation

Back 83

1. allows sperm to move
2. acrosomal surface
3. Lipid composition is changed, some proteins and carbohydrates are removed, membrane potential drops
4. cAMP stimulated tyrosine phosphorylation of proteins and by changes in pH and Ca concentratoins.

Front 84

What kind of smelling receptors do sperm express? Why?

What regulates beating of flagellum?

Back 84

olfactory receptors! To smell and find the egg

Ca+

Front 85

IVF
1. what's the general idea?
2. What is added and what do they remove?

Back 85

1. mimic oviduct environment so sperm will move
2. Ca+ is added change membrane potential
Albumen - to get rid of cholesterol
Bicarb and Ca+ - activate cAMP dpeendent protein kinase A (removal of proteins and carbs)

Front 86

Distinct events in fertilization
1-6

Back 86

1. penetration through follicle cell layer (requires capacitation)
2. binding of sperm to zona pellucida
3. acrosomal reaction
4. Penetration of sperm through zona pellucide
5. binding of sperm to egg and fusion of plasma membranes
6. sperm nucleus enters egg cytoplasm, pronuclei fusion

Front 87

What is the function of the zona pellucida?

what is it made of?

Back 87

A barrier to interspecies breeding

glycoproteins. no cells.

Front 88

1. What are the glycoproteins of the zona pellucida?
2. ZP1 and ZP2
3. ZP3
4. Is carbohydrate portion or protein portion of ZP3 important for binding? Which one?
5. How are Z1, Z2, Z3 glycosylated?

Back 88

1. ZP1, ZP2, ZP3
2. associate noncovalently to form long filaments
3. A receptor for sperm
4. THE CARB!
5. N and O linked glycosylated

Front 89

Acrosomal reaction
1. Does what?
2. What is activated after sperm binds the zona pellucide?
3. What proteolytic enzymes are released to help sperm penetrate the ZP?
4. What happens to ZP2?

Back 89

1. binds acrosome to zona pellucida
2. G-protein signal. Intracellular Ca2++ and pH increase. Acrosome reaction occurs
3. acrosin, serine protease)
4. is binded by proteins fro minner acrosomal membrane

Front 90

Fusion of sperm and Egg
1. Where does fusion of the sperm to egg occur?
2. Where can fusion occur on the egg?
3. What proteins are involved in THIS fusion process?

Back 90

1. post acrosomal region
2. ANYWHERE but first polar body and second metaphase plate
3. CD9., Fertilin, Integrin

Front 91

Cortical Reaction
After a sperm has entered the egg, it is critical to prevent other sperm from entering the egg.
How to do this:
1. Restrict number of...
2. After sperm binding and fusion, a rapid...
3. Cortical reaction

Back 91

1. sperm to 100
2. depolarization of the membrane
3. after sperm entry, Ca2+ levels rise. Increases cortical granules, which release enzymes out of the cell. Enzymes remove sugar from ZP3 and proteolyse ZP2. No more sperm on the zona pelluica.

Front 92

What does the sperm contribute during fusion of sperm and egg?

Back 92

it's nucleus, and a centriole

Front 93

Nuclei fusion
1. What do pronuclei do before they fuse?
2. What happens after they fuse?

Back 93

1. replicate their DNA
2. divide! chromosomes line up, centrioles get to work

Front 94

Early Development
Pathway from Oocyte to implantation!

Back 94

Secondary oocyte
Fertilized --> meiosis II
Zygote
2, 4, 8 cell stage
Morula
COMPACTION
blastocyst
Implantattion

Front 95

COMPACTION
1. oocurs at what cell stage?
2. what do blastomeres do to make a compact ball of cells?

Back 95

1. 8 cell stage
2. change change, realign themselves

Front 96

Compaction:
1. Maximizes cell to cell...
2. What kind of junctions are at apical surface?
3. What kind of junctions are basolateral surface?
4. E-cadherin
5. Some membrane molecules relocate to apical surface...
6. All of the process create what in the embryo?
7. What kinase is involved with E cadherin, helping it shift during compaction?

Back 96

1. contact at basal and lateral surfaces
2. Tight junctions
3. Gap junctions
4. cell surface adhesion molecule, forms a homophilic interaction.
5. tight junctions formed at apical surface to seal the embryo off
6. POLARITY!
7. Protein Kinase C

Front 97

Formation of blastocyst
Outer cells
1. also called
2. will this contribute to future embryo?
3. Will this contribute to chorion?
4. what stage of embryo does this appear?
5. contribute to extra embryonic tissue?

Back 97

1. trophoblasts
2. No
3. Yes
4. Morula
5. yes

Front 98

Inner cell mass
1. Does this contribute to embryo?
2. what four things does this form
3. contributes to extra embryonic tissue?
4. Undergoes cavitation:

Back 98

1. yes, to all of it
2. yolk sac, embryo, allantois, amnion
3. yes
4. trophoblasts secrete fluid and push cells to one side, embryonic pole. Now wer're at the blastocysts stage!

Front 99

From the uterine tube to uterus:
1. Inner cells must now do what to attach to uterine wall?
2. how does the embryo break down the ZP
3. Failure to hatch can cause what?

Back 99

1. hatch out of the zona pellucida
2. trophoblasts secrete proteases that digest the ZP
3. infertility. IVF can drill a hole in the ZP to help out

Front 100

What must a morula go through to become a blastocyst?

Back 100

Cavitation!

Front 101

How does the embryo attach itself to uterine wall?

What does it use to attach?

What regulates that?

Back 101

1. with the trophoblast layer, using cell cell interactions

2. Integrin (ECM receptor) on trophoblasts interacts with ECM on uterine wall

3. hormones and growth factors. Estrogen, prostaglandins

Front 102

Which side of uterine wall does embryo typically attach to?

Back 102

Backside

Front 103

What are the major events of the second week of human development?

Back 103

After embryo attach to uterine wall, starts invasion of mother. Invasion establishes a connection to pass nutrients from mother to embryo. Inner cell mass of embryo further divides into a 2 layer structure

Front 104

Syncytial division

What do syncytial trophoblasts do?

Back 104

nuclei division without cell division, resulting in multinucleated cells called the syncytial

secrete a lot of proteases (collagenase, stromelysin) which digest ECM proteins and allow embedding into uterus.

Front 105

Integrins
How do their populations change during embedding of the blastocyst?

Back 105

Certain set of integrins allow binding to the surface of uterine wall.

As the embryo starts to invade the uterine wall, different integrins are needed to allow embryo to stay bound to the matrix

Front 106

Decidual reaction

Back 106

when the uterus bring blood to developing embryo

Front 107

Formation of the bilayer germ disc:
1. As embryo digs into uterine wall, what does it develop?
2. Hypoblast faces what?
3. Epiblast faces what?
4. Cells of hypoblast proliferate and migrate downward along sides of blastocyst cavity, form lining of new cavity called...
5. Cells of the epiblast migrate upward to enclose the top cavity, forming the...

Back 107

1. a 2 layer structure, epiblast and hypoblast
2. outside
3. into the endometrium!
4. yolk sac
5. Amniotic cavity

Front 108

Amniotic cavity:
establishes what?

what will it be in the future

Back 108

A connection between mother and child

it will enlarge and become future home of embryo

Front 109

Yolk Sac:
provides what?

Back 109

fooood

Front 110

The third week:
What big event happens?

Back 110

Gastrulation

"the most important event in life"

Front 111

Ingression process

Back 111

At the beginning of gastrulation, cells at edge of embryo migrate towards the center and form the primitive streak

Front 112

Henson's node

Back 112

At one end of primitive streak. Has oragnizer property. Organizes a new body axis.

Front 113

Conjoined twins - one possible cause

Back 113

the splitting of Henson's node

Front 114

How do endoderm and mesoderm form?

Back 114

epiblast cells migrate through primitive groove and onto and around hypoblast cells.

Front 115

Cell movement during Gastrulation
1. Cells that move toward center to form primitive streak move as a sheet.
2. As cells move towards the center, cells will pop out of the epiblast layer.
3. Major force that promotes embryo elongation, causes cells to change shape.
4. Occurs in ectodermal cell region. During this process, ectodermal cells migrate down to enclose both endodermal and mesodermal cells.

Back 115

1. invagination (doesn't happen in humans)
2. Ingression. Cells actively migrate in different directions. Poster cells move outside to form lateral tissue. cells near primitive streak form midlline structures like spinal cord. Cranial region cells, near henson's node, forms anterior tissues.
3. convergent extension. required medial lateral cell intercalation.
4. Epiboly. Requires radial intercalation.

Front 116

Cell fates:
1. Ectoderm
2. Mesoderm
3. Endoderm

Back 116

1. neural tissues, epidermal derivatives, sensory placode
2. skeleton, muscle, heart, kidney, blood, gonads
3. Lungs, lining of gastrointestinal tract, thyroid

Front 117

What is involved in mesodermal and endodermal cell fates?

Back 117

Growth factor signaling!

Front 118

END OF 3RD WEEK THROUGH 4TH WEEK OF GASTRULATION

Back 118

YEAAAH

Front 119

Formation of what major systems are important during 3rd and 4th week?

Back 119

CNS and PNS

starts after gastrulation

Front 120

Somite formation and Neural Induction
1. Induction of nervous system happens by
2. Surrounding the notochord, there are tissues that divide into blocks called
3. Notochord and somite will induce ectoderm to become...
4. neural tissue will undergo a genetic change process called

Back 120

1. Notochord - located at the midline of embryo. it is mesodermal tissue
2. Somites - which later contribute to ribs and skeletal muscles
3. neural tissue
4. neurulation

Front 121

Neurulation in early embryos
1. Ectodermal tissue rises from both sides, meet in center, and enclose. Forms what? What comes from this?
2. As the neural tube closes, neural crest tissue forms at the neural folds and migrates out of neural tube. These cells give rise to what?
3. What are required for neural induction?

Back 121

1. Neural tube. CNS.
2. PNS
3. Growth factors and inhibitions of BMPs

Front 122

Closure of neuropores
1. Closure of neural tube begins in the middle and closes at...
2. failure of the neural tube to close results in...

Back 122

1. rostral neuropore, then the tail (caudal region)
2. birth defects

Front 123

Neural tube defects (NTDs)
1. NTDs cause degeneration of
2. severe cases, what kind of babies are born
3. Caudal NTD's result in...
4. NTDs can be detrected by measuring...

Back 123

1. brain tissue
2. stillborns
3. spina bifida
4. alpha fetoprotein (AFP) in amniotic fluid. High levels of AFP in amniotic fluid indicate NTDs. sometimes AFP can be manipulated to correct NTDs.

Front 124

What important growth factor signal plays a role in neural tube closure?

Back 124

Wnt
it controls cell shape changes and cell polarity

Front 125

Differentiation of Neural Tissue:
Neural tissue formation is not uniform
1. The brain tissue is divided into forebrain, midbrain, and hind brain, which is followed by spinal cord region. Along what region?
2. Dorsal side of brain has what kind of neurons?
3. Ventral side of brain has what kind of neurons?

Back 125

1. rostral - caudal
2. sensory neurons
3. motor neurons

Front 126

Anterior-Posterior (AP) patterning:
1. FGF, Wnt, retinoid acid all help to specify the...
2. In cranial region, what prevents the factors in #1 from making your brain look like your back?
3. What is the pattern of secreted growth factors along the AP region?
4. Growth factors control downstream transcription factors expression

Back 126

1. caudal region
2. inhibitors
3. a gradient
4. yes indeed they do

Front 127

Hox genes
1. what are they?
2. how many, in how many chromosomes?
3. How are expressed?

Back 127

1. homeobox transcription factors
2. 13 in four chromosomes
3. sequential fashion temprally and spatially along the AP axis and determine AP characters of mesoderm and neural tissue

Front 128

Expressino of Hox genes in neural crest and the mesoderm in the head region controls the formation of the facial...

Back 128

skeletal elements.

Front 129

Expression of Hox genes is under the control of

Back 129

Soluble AP patterning factors, like retinoic acid, Wnt, and FGF

Front 130

Dorsal Ventral Patterning of Neural Tube
1. Dorsal side forms...
2. Ventral side forms...
3. Interneuron connects...
4. formation of dorsal and ventral neurons is controlled by

Back 130

1. sensory neurons
2. motor neurons
3. sensory and motor neurons
4. gradient growth factors

Front 131

Two opposing gradients come from overlaying ectoderm and underlying notochord (mesodermal tissues)
1. Notochord secretes
2. Ectoderm secretes

Back 131

1. sonic hedgehog (SHH) signals. helps to specify motor neuron formation on ventral tissue
2. TGFB ligands and BMPs. these oppose SHH. Help to specify sensory neuron formation on the dorsal tissue.

Front 132

If you ectopically express SHH in the ectoderm, you can change the neuronal identity here into

Back 132

motor neurons

Front 133

Neural crest
1. Where does it come from?
2. neural cells become migratory and establish other tissues as soon as...
3. cell fate is influenced by

Back 133

1. space between neural plates and epidermis
2. the neural tube is closed
3. surrounding tissue

Front 134

1. Cranial NC:
2. Cardiac NC:
3: Trunk NC
4. Vagal and Sacral NC

Back 134

1. bone and cartilage in face
2. forms musculoconnective tissue, aortic valve, septum
3. Forms ganglia of PNS (schwann cells) and melanocytes - pigment cells. also cells in adrenal medulla.
4. form parasympathetic ganglia

Front 135

Pluripotency of trunk neural crest cells
1. Neural crest cell fate is not determined before migration. Determined by...
2. as cells migrate out, they respond to specific signals depending on

Back 135

1. local signal
2. environment

Front 136

Two major routes of trunk neural crest:

Back 136

dordolateral route - under the surface of the ectoderm, melanocytes

Ventrolateral route: anteriror half of sclerotome, DRG, sympathetic ganglia

Front 137

What are repellant signals for migrating neural crest?

Back 137

Ephrin and semaphoring

Front 138

What determines cell migration routes?

Back 138

Cell to cell interactions

Front 139

Developmental abnormalities in neural crest cells
1. mutation of kit gene

Back 139

pigment abnormality

Front 140

GENETIC INHERITANCE SERIES

Back 140

YEAH

Front 141

Robertsonian Translocations
1. What kind of chromosomes does it involve?
2. Which chromosome numbers does it involve?
3. How to tell if it is robertsonian?
4. what are the risks?
5. Monosomies are generally...
6. Which one isn't?

Back 141

1. acrocentric chromosomes
2. 13, 14, 15, 21, 22
3. not sure yet
4. not any for the person with the translocation because they have all the genetic material. but their offspring could have problems, like monosomies.
5. Lethal. Monosomy X is turner's syndrome and they live, but that's it

Front 142

1. Genotype

2. Phenotype

Back 142

1. genetic composition at a given location in the genome

2. observed trait of the organism being studied
physical, behavioral, biochemical

Front 143

if you see male to male direct transmission, think:

Back 143

AUTOSOMAL DOMINANT!

Front 144

AD rules:
1. What kind of transmission?
2. what is recurrence risk for affected individuals for each progeny?
3. Do unaffected individuals pass on the trait?
4. are males and females equally affected

Back 144

1. Vertical
2. 50%
3. No. they don't have it!
4. yes

Front 145

AD exceptions:
why it may not look like AD inheritance
1. New...
2. Incomplete
3. variable...
4. germline...

Back 145

1. mutation
2. penetrance
3. expressivity
4. mosaicism

Front 146

Achondroplasia
1. What is it?
2. autosomal? sex? dominant? recessive?
3. 80-90%...
4. Penetrance?
5. How much variation in expression?
6. What is the mutation?

Back 146

1. most common form of dwarfism
2. autosomal dominant
3. sporadic
4. Complete
5. Little
6. FGFR3, gly380 to arg

Front 147

Thanatophoric dysplasia:
What kind of mutation?

Back 147

All new mutation. 100% lethal.

Front 148

Penetrance
Either

Back 148

YES or NO

if NO, percentage. or something. I don't know.

Front 149

Incomplete penetrance:
1. 1-2 punch
2. Sex limited
3. time limited

Back 149

1. you have a mutation, but no phenotype. but then, environmental factors kick in, and THAT gives you phenotype. Ex: colon cancer
2. Ovarian cancer, guys can't get it. Prostate cancer, women can't get it.
3. diseases that occur at old age don't manifest if pt dies young

Front 150

Variable expression
1. Example of a disease with this
2. What gene mutation causes this?
3. Characteristics of this disease
4. do mutation carriers always have HPE?
5. Digenic inheritance
6. Epigenetic modifiers

Back 150

1. Holopros encephaly
2. Sonic Hedgehog gene. epigenetic factors as well, need SHH mutation + abnormal cholesterol, so SHH doesn't concentrate, forms gradient, manifests disease
OTHER GENES: SHH, SIX3, ZIC2, TGIF
3. single central incisor, wide spaced eyes
4. No, only microforms
5. mutation in SHH and TGIF
6. low cholesterol in mothers of HPE / SHH

Front 151

Germline mosaicism
1. Sometimes, it's germline mosaicism when it looks like
2. An example:
3. Gene for example:
4. Another example

Back 151

1. autosomal recessive
2. Campmelic dysplasia
3. SOX9 - heterozygote mutation
4. Osteogenesis imperfecta

Front 152

AD mutation: Four kinds

Back 152

Loss of function
Gain of function
Antimorphic (protein suicide)
Atavistic

Front 153

Loss of function
1. AKA
2. Amorphic
3. Hypomorphic
4. usually what kind of genes?

Back 153

1. haploinsufficiency
2. no functional gene product
3. reduced function of gene product. deletions, null mutations
4. Developmental genes, that need 100% to function
vs AR disease genes
vs cancer genes, like NF1, BRCA1 (has AD inheritance, AR action)

Front 154

Gain of Function
1. Neomorphic
2. Hypermorphic

Back 154

1. New function! Huntingtons. Causes parts of brain to wither and die.
2. Excessive function. FGFR3 mutations. Thanatophoric dysplasia, Achondroplasia
Makes FGFR3 do its job too well, makes bone growth sloooooowwwww

Front 155

Antimorphic mutations
1. collagen mutation

Back 155

most severe phenotypic is one that have least severe effect on strands. no idea what this means.

Front 156

Atavisitic mutations

Back 156

Activate a gene turned off by evolution.
Example: Congenital generalized hypertrichosis
WOLFMANS SYNDROME

Front 157

Autosomal recessive inheritance
1. Horizontal transmission
2. Consanguinity
3. Often involve...

Back 157

1. unaffected parents, multiple affected children in one generation
25% recurrrence risk if you have one affected child.
2. More likely to see recessive traits.
3. enzymes and proteins, don't need 100% function

Front 158

If a child has a recessive disorder, what are the genotypes of his parents?

Back 158

Aa and Aa. they HAVE to be

Front 159

what is the likelihood that the sister of a woman who has a child with cystic fibrosis has cystic fibrosis?

Back 159

50%, because siblings share 50% of genetic info

Front 160

Founder effect
1. definition
2. Examples

Back 160

1. Mutant alleles are more common in defined population

2. CF is northern european
sickle cell disease in africans/mediterranean
Tay Sachs in ashkenazi jews

Front 161

Should you ever diagnose or eliminate based on race?

Back 161

noooo

Front 162

Pseudodominant inheritance
1. What is it?
2. what percentage of offspring is affected?
3. Criteria

Back 162

1. Apparent AD transmission of AR genetic trait
2. 50%
3. High carrier frequency for recessive
trait must be relatively mild
like sickle cell anemia, or DFNB1, (deafness)

Front 163

X linked inheritance
1. affects males or female much worse?
2. for affected men, what kind of offspring?
3. for carrier women, what kind of offspring?
4. Can this skip a generation?

Back 163

1. males are much worse
2. No affected sons, daughters are at least carriers
3. 50% of sons are affected, 50% of daughters are carriers
4. YES

Front 164

X linked: an example.
Lowe syndrome:
1. Male phenotype
2. Female phenotype
3. Is this non penetrance? no penetrance?

Back 164

1. Mental retardation, cataracts, renal tubular acidosis
2. subtle eye changes
3. No, it's X linked

Front 165

Why would females show symptoms in X linked inheritance?
4 reasons

Back 165

1. unfavorable lyonization (x linked inactivation, bad luck)
2. Homozygosity
3. 46 XY female
4. Turners syndrome, 45 X

Front 166

Whoops, back to Lowe syndrome:
1. Etiology
2. Genetics ( what-linked, what gene?)

Back 166

1. defect in inositol metabolism
2. X linked, Xq26.1

Front 167

X chromosome inactivation
1. Where is the X inactivation center?
2. What does the above locus contain?
3. When is XIST rna active?
4. How does other X chromosome stay active?
5. what do you call inactive X chromosomes?
6. does XIST RNA ever cross over to other X chromosomes in the nucleus?
7. Can XIST RNA spread any other way/

Back 167

1. Xq13
2. genes that code for XIST, an RNA that covers whole X chromosome and shuts it off
3. at the early embryonic stage of female, but it is continuously broken down
4. It methylates it's XIST region
5. Barr body. It's an X chromosome painted with XIST
6. NO
7.

Front 168

How to calculate the number of bar bodies

Back 168

# x chromosomes - 1

Front 169

How many barr bodies does somebody with klinefelter's have? (47 XXY)

Back 169

1

Front 170

1. After X inactivation with XIST, is X inactivation complete?
2. What is skewed X inactivation?

Back 170

1. No, 15% remains active. This is why 45 X causes abnormalities.
2. if one X is missing a chunk of its chromosome (why, I have no idea) and other is a mutant, only the cell taht inactivates chunk-missing cell lives. cell that inactivates mutant X but leaves missing-chunk X chromosome will die

Front 171

X autosome translocation:
describe an example

Back 171

chromosome 9 and X translocate. X chromosome may be inactivated. SOOOO chromosome 9, or whatever portion was translocated, is inactivated as well

Front 172

X linked dominant
1. who is more affected, males or females?
2. offspring risk of males
3. offspring risk of females

Back 172

1. males
2. no affected sons, all daughters are affected
3. 50% risk of affected child

Front 173

Incontinentia Pigmenti
1. What is the ratio of male to female offspring with this condition?
2. what are the symptoms?
3. What is the new mutation rate for X linked geentic lethal trait?
4. If you diagnose Incontinentia Pigmenti, what are the chances the mother had it? what are the chances the father had it? what are the chances it was a new mutation?

Back 173

1. 1:2
2. blisters in first few weeks, heal as hyperkeratic or hyperpigmented streaks
3. 1/3
4. 2/3, 0, 1/3

Front 174

Y linked inheritance
1. what do most genes on Y chromosome code for?
2. What gene is coded on Y chromosome that is not sperm related?
3. A mutation of number 2 will cause what?
4. If you have #3 heterozygous, what happens?
5. If you have #3 homozygous, what happens?

Back 174

1. SPERM
2. SHOX Y (has something to do with height)
3. Leri Weill Dystchondrosteosis
4. Bowed forearms
5. Short stature

Front 175

Digenic inheritance
1. Has characteristics of what kind of inheritance(s)?
2. Disease example:
3. Aa=
Bb=
ab =
4. Lets say mom is Aa and dad is Bb. What is the chance child has condition?

Back 175

1. AD and AR
2. Retinitis pigmentosa
3. normal, normal, mutation
4. 1/4

Front 176

Mendelein assumptions:
Why are they wrong?
1. Genotype is equally from mother and father
2. Mutations are static across generations, they do not change
3. Maternal and Paternal alleles of genes are functionally equivalent
4. Two copies of gene are sufficient for growth

Back 176

1. mtDNA is solely from mother
2. Triplet repeats get worse every generation
3. Imprinting
4. Imprinting

Front 177

Triplet Repeat Diseases
1. Static from generation to generation?
2. Expansion of a stretch of what?
3. How many of these do we have?
4. Often used for what genetic tool?

Back 177

1. NO. they get worse
2. repeated 3 nucleotide sequences
3. millions! in noncoding regions
4. mapping

Front 178

Triplet repeat RULES
1. How bad is the phenotype?
2. Genetic anticipation
3. It is specific to either maternal or paternal...
4. maternal or paternal?

Back 178

1. However bad the repeat is
2. concept of how expansion increases in subsequent generations
3. meiosis
4. Depends on the disease

Front 179

Triplet repeat disease:
3 examples

Back 179

Myotonic dystrophy
Fragile X syndrome
Huntington

Front 180

Myotonic dystrophy
1. Familial or new?
2. The age of onset is how variable?
3. Caused by what triplet repeat of what gene?
4. how many repeats for mild myotonic dystrophy? symptoms?
5. how many repeats for classic myotonic dystrophy? symptoms?
6. How many for very serious myotonic dystrophy? symptoms?
7. Repeat expansion by passing down from which gender?

Back 180

1. 90% familial
2. prenatal - 60's
3. CTG of DMPK
4. over 50. cataracts, mild myotonia
5. over 100. myotonia, cataracts, balding, cardiac arrhythmia
6. Over 2000. Classic symptoms explained above plus intellectual disability, infantile hypotonia, respiratory deficits
7. female

Front 181

Fragile X syndrome:
1. One of the most common causes of...
2. Exact prevalance?
3. Sherman paradox
4. Phenotype
5. Mechanism, Gene, repeat sequence
6. 5 to 50 repeats and you are...
7. 50 to 200 repeats and you are...
8. over 200 repeats and you are...
9. Direct RNA toxicity
10. Indirect DNA toxicity
11. expansion occurs if passed down from

Back 181

1. intellectual disability
2. UNKNOWN
3. doesn't act like a typical X linked recessive disease. excess affected females, transmitting (unaffected carrying) males, anticipation.
4. ID, autism, large testicals, facial findings, premature ovarian cancer
5. Loss of function mutation
FMR1. CGG
6. normal.
7. premutation. high risk of expansion
8. fragile X syndrome
9. damage cells by improper sequestration
10. csues DNA damage by messing w/ transcription and translation
11. female

Front 182

Huntington
1. what does this cause?
2. inheritance pattern
3. penentrance
4. familial or new
5. expansion occurs if passed down from ..

Back 182

1. progressive dementia
2. AD
3. fully penetrant
4. 90% familial (make sure to change myotonic dystrophy to fully familial)
5. MALE

Front 183

premutation fragile x females show what?

many older people have resting tremors. what interesting fact about fragile x involves this?

Back 183

clear neuropsychiatric issues

2-4% of resting tremors are from fragile X

Front 184

What things does mitochondrial disease affect?

Back 184

anything that requires alot of ENERGY.

like vision, hearing, CNS, gut, muscle

Front 185

mtDNA
1. how many base pairs?
2. what is the structure of the chromosome?
3. the proteins that it codes for, where do they end up?
4. What is more common, mtDNA mutations or nuclear genome mutations?
5. what prevents nuclear machinery from transcribing mtDNA?

Back 185

1. ~1600
2. a circle
3. ETC
4. mtDNA mutations
5. differences in mtDNA structure

Front 186

mtDNA:
1. does mtDNA complex with Histones?
2. have DNA repair machinery?
3. cross over with nDNA?
4. Do males contribute mtDNA to offpspring?
5. If mom is affected by mitochondrial disorder, how many children are affected?

Back 186

1. No
2. No, so there is a high mutation rate
3. No
4. No, male mitochondria are in sperm tails and are lost during fertilization
5. ALL OF THEM

Front 187

Heteroplasmy

Back 187

mosaicism from mitochondrial abnormalities. Ratio normal / abnormal mtDNA. separation is random.
Variable phenotype
phenotype gets worse over time

Front 188

Inheritance pattern of mitochondrial diseases:

Most proteins are encoded by what?

Back 188

1. Autosomal recessive

2. the nucleus

Front 189

Imprinting
1. if an allele is imprinted, it is either
2. what is imprinting?

Back 189

1. turned off or enhanced
2. sex specific expression of a group of genes.

Front 190

SWITCH GEARS: AGING

Back 190

YEAH let's cut away from dense genetics and just do aging

Front 191

Why should we study aging?
1. how many people are over age 65 today?
2. how will this increase in 25 years
3. number of people over 85 will increase how much?

Back 191

1. 35 million
2. IT WILL DOUBLE
3. 5 fold

Front 192

Definition of aging:
A process of gradual maturation that consists of...

Back 192

time dependent processes that generally mirror chronological age but is highly variable and individualized

Front 193

Signs of aging
1. skin, sight, taste, smell
2. what happens to hair?
3. Where do you generally gain weight?
4. What is the above a risk factor for?
5. Bone density? reflexes? gait?
6. mental agility and memory?

Back 193

1. wrinkles, less acute, taste, smell
2. thins and grays
3. around waist and hips
4. cardiovascular risk
5. loss of bone density, reflexes down, ATAXIA
6. declining mental agility, memory slackens

Front 194

Is aging ever linked with disease

At age 75, what percent of body mass is fat tissue?

Back 194

YES LIKE ALL THE TIME

30%

Front 195

Aging versus disease
1. what two things is universal with aging and has no cause or origin?
2. what two things are common in normal aging and are considered diseases?
3. what things decrease with aging? (4)
4. What age is the peak % of diabetes?

Back 195

1. presybyopia, graying of hair
2. glucose intolerance, memory loss
3. kidney blood flow, female fertility, glomerular filtration rate, maximum breathing capacity
4. 60. tapers off bc people DIE

Front 196

Varying levels of need
1. What age group needs the most help with activities of daily life?
2. Which ADL is this, usually?
3. On average, if life expectancy is 76.1 years, a person will have...

Back 196

1. 85 and up
2. mobility
3. 63.8 years and 12.3 years of nonfunctional

Front 197

Life span vs Life expectancy
1. Life expectancy
2. Life span
3. What is a common trait among centenarians?

Back 197

1. average number of years that a group of infants born in a particular year is expected to live if they experience the specific death rates, prevailing in the year they were born. gone up over time.
2. length of life of one or more members of a grouip has been observed to live and is expected to live under ideal conditions. Genetically programmed for each species
3. Being optimistic!

Front 198

Theories of aging:
1. loose cannon theory
2. rate of living theory
3. Weak link theory
4. Error catastrophe theory
5. Master Clock theory

Back 198

1. free radicals and oxidative stress mess you up
2. bigger means you live longer. if you smaller, you live shorter
3. Immune system and neuroendocrine system is weak, both are subject to age related illness
4. Errors in DNA transcription and RNA translation cause aging
5. rate of aging determined biologically for the good of the species, nothing can be done about it

Front 199

Oxidative stress
1. credibility?
2. list the free radical species
3. oxidative stress can cause damage to what?
4. oxidative stress can lead to lipid ___ protein ____ DNA ____
5. This damage ultimately leads to

Back 199

1. pretty darn credible
2. superoxide, hydroxyl, hydrogen peroxide, nitrogen dioxide
3. mitochondria, dna, protein processing, metabolism
4. peroxidation
oxidation
oxidation
5. loss of cellular phenotype
necrosis
apoptosis

Front 200

Environmental theories of aging
1. What two things are inversely related to aging?
2. What is the only intervention that has slowed aging in mammals?
3. Ionizng reaction?

Back 200

1. temperature, metabolic rate
2. reduce dietary intake without malnutrition
3. big does kills, little dose lengthens lives

Front 201

DNA theory of aging
1. Life span and what are related?
2. What is the result of DNA damage?
3. Structural and metabolic protein is what kind of effect?
4. Coordinating and controlling protein is what kind of effect?

Back 201

1. DNA
2. abnormal proteins
3. temporary
4. permanent

Front 202

When older people lose weight, they generally lose...

this could be why _____ slows down

Back 202

MUSCLE MASS

metabolism

Front 203

Cellular aging
1. Division if finite EXCEPT IN
2. Transfer of which chromosomes can cause a cell to be immortal?
3. What kind of cell in older people divide fewer times?
4. Hayflicks limit

Back 203

1. cancer cells
2. 1,4,7
3. fibroblasts
4. fibroblasts don't divide unless they come in contact with each other. If they are diluted, they don't divide. So they stay young. Can do 50 cell divisions.

Front 204

Why cells age and eventually stop dividing (telomere theory of cellular aging)
1. what is a telomere
2. telomeres consist of how many repeats of what sequence?
3. Telomere loss occurs with division in what kind of cells?
4. What can make the telomere longer?
5. What happens to telomere length as we age?

Back 204

1. the end region of a chromosome that maintains its integrity
2. 2000 repeats of ttaggg
3. somatic cells. not cancer or germ cells
4. telomerase, a reverse transcriptase enzyme. expressed in germ, embryonic stem and cancer cells
5. shortens

Front 205

Progeria
1. What is inheritance pattern of this disease?
2. What kind of mutation in which gene?
3. Aging starts at what age? When do they usually die? And from what?
4. DNA repair process - is it intact?

Back 205

1. Autosomal recessive
2. point mutation in LMNA gene
3. 2, 30, heart disease
4. Seems to be?

Front 206

Werner's syndome
1. inheritance pattern?
2. Normal development until...
3. symptoms?
4. when die?

Back 206

1. autosomal recessive
2. puberty
3. thickened skin, cataracts, heart disease, cancer, atherosclerosis
4. premature death, 45-50

Front 207

Down syndrome
1. abnormal chromosome?
2. symptoms?
3. premature what?

Back 207

1. trisomy 21
2. short stature, heart and cardiovascular diseases, cancer, glucose intolerance, hair loss, cognitive impairment
3. dementia, 80% die at age 30

Front 208

PROTEIN SYNTHESIS

Back 208

YEAH SYNTHESIS OF PROTEINS

Front 209

What is the sequence of the acceptor stem stem?

Back 209

5' CCA 3'

AA attaches to 3' end

Front 210

How many possible codons for how many AAs?

Back 210

61, 20

Front 211

How does one...charge...a tRNA?

Back 211

by slapping an amino acid on the 3' end of it using a tRNA synthetase

Front 212

What is the high pressure job of the synthetase?

Back 212

to find the right AA and the right tRNA and match them together. Fidelity is very important.

Front 213

How does tRNA synthetase identify correct tRNA?

(most common elements)

Back 213

anticodon loop
Acceptor stem

Front 214

Aminoacylation
1. Class 1
2. Class 2

Back 214

Adenine 2' position is esterified to amino acid, then transesterified to 3' position

Adenine 3' group is esterified to amino acid

either way, you make an aminoacyl tRNA

Front 215

Editing activity of tRNA synthetase

Back 215

If AA fits into synthesis site, great. tRNA synthetase adds the AA. Step 1 passed.

If AA does not fit into editing site, great. Step 2 passed.

If AA DOES fit into editing site, it is cut off. It's a hydrolysis reaction.

2 step verification of correct AA-tRNA connection

Front 216

WOBBLE
1. Why wobble?
2. In our example, which amino acid do we use?
3. In the 5' anticodon position, G can bind to what two bases?

Back 216

1. There are 61 amino acid encoding codons. BUT, there are only a few tRNAs. So, one tRNA must be able to recognize different codons. How? By having Wobble. 5' end of anticodon base can bind to several different bases.
2. Histidine
3. C and U

Front 217

3rd problem of fidelity: frameshift.

SOLVED. but how?

Back 217

Have a start codon! AUG codes for methionyl tRNA codon. AUGment your translation!

Also, keep a strict 3 nucleotide transition during elongation.

Front 218

Prokaryotic Ribosome structure:'
1. what subunits?
2. how many rRNAs?
3. How many proteins?
4. How many daltons?

Back 218

1. 50s + 30s = 70s
2. 3
3. 52
4. 2.5 million

Front 219

Locations: (big or small unit)
1. mRNA strand
2. PTC
3. decoding center

Back 219

1. in between big and small
2. Big subunit
3. Small subunit

Front 220

How did we determine structure of ribosome?
1. what technique did they use to see separate subunits?
2. what did they see after that?
3. then they obtained crystal structure

Back 220

1. Early cryo electron microscopy
2. the center of big unit where mRNA passed through
3. true story

Front 221

What big discovery was made about what a ribosome is after they discovered crystal structure?

Back 221

A ribosome is a ribozyme!

an enzyme made pretty much of rna.

No proteins were found within 18 angstroms of peptidyl transferase site. Catalysis mediated by RNA.

Front 222

Eukaryotic Ribosomes vs. Prokaryotic
1. How much bigger?
2. how many rRNAs?
3. how complicated?

Back 222

1. 2x as big
2. 4
3. much more complicated

Front 223

what is the name of the ribozyme that catalyzes peptide bond formation?

Back 223

the ribosome

Front 224

Prokaryotic translation initiation:
1. What is the start codon
2. What does this code for?
3. What modification is made to the charged tRNA?
4. Where does this enter the ribosome?

Back 224

1. AUG
2. Methionine
3. N-formyl is attached to it. It loses its attached THF to bind to tRNA.
4. The P site. The bond between formyl and tRNA looks like peptide bond.

Front 225

Translation:
No AUG?

No Shine Delgarno sequence?

UNLESS

Back 225

Can't start

It'll never find it

You're eukaryotic. In which case, you don't use either

Front 226

rRNA sizes:
Prokaryote
1. small subunit
2. large subunit

eukaryotes
3. small subunit
4. large subunit

Back 226

1. 16S
2. 5S and 23S
3. 18S
4. 5S 5.8S and 28S

Front 227

Initiation factors of prokaryotes:
1. IF1
2. IF2
3. IF3

Back 227

1. attaches to A site of 30S ribosome and blocks tRNA binding
2. G protein that binds fMet-tRNA. Interacts with IF1
3. Binds 30s E site, prevents 50s binding

Front 228

How are IFs released from ribosome?

Back 228

by a GTPase.

Front 229

What two things affect the efficiency of translation?

Back 229

1. how well Shine Delgarno sequence conforms to consensus sequence that is complementary to 3' end of 16s rRNA
2. Distance between SD sequence and start codon. 7 spaces is optimal

Front 230

1. What do high translation initiation rates lead to ?

2. What is an added benefit of having many ribosomes on the same mRNA strand?

Back 230

1. multiple ribosomes per message - polysomes

2. protection against decay rate

Front 231

How many Amino Acids per Second do Ribosomes process?

Back 231

20

Front 232

EF-Tu

Back 232

escorts AA-tRNA to A site. G protein. Makes Ef-Tu - tRNA - GTP complex. Goes to A site. If everything looks good, GTP hydrolysis occurs, and Ef-Tu - GDP complex is released.

it is one of the most highly expressed proteins in a cell

Front 233

Does transferring peptides to elongate the AA chain require energy?

Back 233

NO

Front 234

Ef-Ts

Back 234

Guanine nucleotide exchange factor that replaces GDP with GTP on Ef-Tu

Front 235

EF-G

Back 235

G protein that promotes translocation of mRNA

Front 236

Peptide formation within the ribosome
1. first reaction
2. second reaction
3. so now you have a new what end?

Back 236

1. nucleophilic attack
2. hydrolysis
3. C terminal end

N TO C TERMINAL CATALYSIS YALL

Front 237

Termination:
1. More complicated in eukaryotes or prokaryotes?
2. When does termination occur?

Back 237

1. prokaryotes, interestingly enough
2. when stop codon (UAA, UAG, UGA) enters the A site

Front 238

Termination factors:
1. RF-1
2. RF-2
3. RF-3
4. RRF

Back 238

1. reads UAA and UAG
2. reads UAA and UGA
3. g protein, helps trigger hydrolysis
4. RRF - liberates ribosome /release factors

Front 239

Molecular mimicry

Back 239

translation factors use molecular mimicry to utilize common binding sites on the ribosome

if you have to achieve biochemical properties, it makes sense to utilize as much things as possible

Front 240

Are ribosomes long lives

Back 240

tRNAs and Ribosomes rarely get degraded

Front 241

Termination differences:
what is the difference in termination between proks and euks in termination

Back 241

only one release factor used in eukaryotes

Front 242

what is the biggest difference between prokaryotes and eukaryotes?

Back 242

translational initation

has alot to do with there being 5' poly tail and methylated cap and how one gene can code many proteins in proks but not euks

Front 243

elongation factors: whats the deal

Back 243

SAME in both, just named different. in this order:
eEF1a
eEF1b
eEF2

Front 244

example of antibiotic that targets prokaryote ribosome

Back 244

puromysin is rRNA analog. it inhibits translation in all analogs

Front 245

Nonsense mutations

Back 245

premature stop codons in orf leading to termination of translation and incompletely synthesized protein

example; CF

Front 246

true or false
ribosome synthesis and assembly in humans is complicated and energetically expensive

Back 246

true

Front 247

How does cell kow to kill itself wehen ribosome synthesis is impaired?

Back 247

p53, the infamous cancer protein, is normally bound to mdm2, keeping it inactive.

When ribosome sythesis is impaired through impairment of rRNA, ribosomal proteins l5 and l11 hang out, build in excess, and bind to mdm2. Now mdm2 cannot bind to p53. p53 causes apoptosis.

Front 248

1. RNA pol I
2. RNA pol II
3. RNA pol III

Back 248

1. transcribes 16s and 23s RNA
2. transcribes mRNA
3. transcribes 5s rRNA

Front 249

BLOOD

Back 249

BLOOOOOD LECTURE

Front 250

1. What kind of tissue is blood?
2. Where do blood cells develop?
3. How much blood do adults typically have?
4. Which cells must remain in the vascular system?
5. Which can go out of the vasculature and into the tissue?
6. Which type of WBC can go out and then return?

Back 250

1. specialized connective tissue
2. reticular connective tissue in bone marrow
3. 5-6 liters
4. red blood cells and platelets
5. wbc's
6. lymphocytes

Front 251

Functions of blood
1. Transport
2. Buffer system
3. Temperature control
4. Remove
5. Removal
6. Immune functions
7. Coagulation factors

Back 251

1. gases, oxygen, carbon dioxide, nutrients, hormones, chemical signals
2. maintains pH at 7.4
3. blood vessels can dilate or constrict to release or conserve heat
4. cellular and metabolic wastes
5. defnese against infection
6. prevents massive blood loss

Front 252

Hematocrit

Back 252

the measure of packed red blood cells in a sample of blood

Front 253

volume of cells and plasma is

Back 253

45 and 55 percent, respectively

Front 254

why do rbcs pellet to the bottom?

Back 254

denser. Iron.

Front 255

who has a higher hematocrit? males or females? why?

Back 255

males have a higher hematocrit. females have periods so it decreases this value.

Front 256

Plasma that lacks coagulation factors is called

Back 256

serum

Front 257

Albumin:
helps maintain what?

Back 257

osmotic pressure

Front 258

99% of the blood is made of

Back 258

RED BLOOD CELLS

Front 259

Granulocytes:

what are the granules involved in

Back 259

Neutrophils or PMNs
Eosinophils
Basophils

innate immunity

Front 260

Agranulocytes

Back 260

Monocytes
Lymphocytes

Front 261

What is the best dye for blood smears?

Back 261

Wright's stain. used to detect cytoplasmic granules

Front 262

THE ERYTHROCYTE
1. shape and size?
2. flexible?
3. circulating RBCs: nucleus? organelles?
4. almost all of the protein found in RBC is what?
5. Some other glycolytic enzymes are also present to generate...
6. life span
7. Main function?

Back 262

1. donut shaped. 7 microns
2. the word is pliable
3. no nucleus, no organelles
4. hemoglobin
5. ATP. no phosphoryl oxidation though
6. 120 days
7. deliver oxygen from lungs to body, deliver co2 from tissue to lungs

Front 263

Long chain of single file rbc's are called what?

Back 263

Rouleaux chains

Front 264

Erythrocyte membrane
1. this protein runs right underneath the membrane and gives it pliability. it is a double helix.
2. actin and tropomyosin

Back 264

1. spectrin
2. IN THE HOUUUUUUSE

Front 265

Sickle Cell anemia
1. Beta chain polymerization leads to

Back 265

long chaaaaains

sickle cellllllls

a most unpleasant experiiiiiiience

Front 266

A antigen

B antigen

Back 266

N acetylgalactosamine

galactose

Front 267

Erythrocyte membrane
1. this protein runs right underneath the membrane and gives it pliability. it is a double helix.
2. actin and tropomyosin

Back 267

1. spectrin
2. IN THE HOUUUUUUSE

Front 268

Sickle Cell anemia
1. Beta chain polymerization leads to

Back 268

long chaaaaains

sickle cellllllls

a most unpleasant experiiiiiiience

Front 269

A antigen

B antigen

Back 269

N acetylgalactosamine

galactose

Front 270

Rh factor: another name for it

Back 270

D antigen

Front 271

Neutrophils
1. The main what of the blood?
2. how many grams produced per day?
3. what kind of nucleus?
4. primary granules
5. secondary granules
6. contain large stores of what?
7. Have relatively few what?
8. How long do they circulate before they migrate into tissue?
9. What is the body's first line of defense against bacteria?
10. eat method

Back 271

1. phagocyte!
2. 80
3. multilobed
4. elastase and myeloperoxidase
5. azurgranules - lysozyme and protease
6. glycogen
7. mitochondria
8. around 10 hours
9. THE NEUTROPHIL
10. take up bacteria, digest it, die

Front 272

Antigen phagocytosis by a neutrophil
1. takes up antigen with
2. use these to engulf antigen
3. digest phagosome with these
4. release digested material in this way
5. die?

Back 272

1. Fc receptors if antibody system or C3b complement if complement system or maybe complement receptor
2. pseudopods
3. secondary enzymes
4. exocytosis
5. yes, then they die

Front 273

Eosinophil
1. what kind of nucleus?
2. specific granules?
3. color of granules in stain?
4. first line of defense against what?
5. granules contain what?
6. where do they hang out?
7. have surface receptors for what? that stimulate what?

Back 273

1. bilobed
2. yes, it has granules specific to their function
3. will stain a little reddish
4. parasites
5. peroxidases. MBP - disrupts parasite membranes. MBP also stimulates basophils to release Histamines.
6. blood and tissue in response to parasites. sometimes lungs.
7. IgE, histamine release

Front 274

Basophils
1. granules stain what color?
2. sometimes you can't see the nucleus
3. granules?
4. allergic response, so they have what kind of receptors?
5. nucleus is shaped how?
6. prevalence?

Back 274

1. blue
2. true story
3. heparin
4. Ige
5. bi lobed
6. very rare

Front 275

Lymphocyte
1. how many sizes?
2. B lymphocytes
3. T lymphocytes
4. NK cells
5. staining?
6. Can you distinguish between B cells and T cells in circulation?
7. Most in blood are recirculating immunocompetent cells, which is

Back 275

1. two, smaller and larger. smaller is like a RBC
2. antibody production. plasma cells. immunocompetent.
3. can kill cells
4. can kill cells too
5. dark nucleus almost covers the whole thing. cytoplasm is a bit lighter.
6. No
7. have the capacity to recoginize and respond to antigens

Front 276

Monocytes
1. How many nuclei?
2. Shape of nucleus?
3. how long do they circulate in the blood before migrating into the tissue?
4. comprise what system?
5. What do they do?

Back 276

1. one
2. horseshoe
3. 3 days
4. mononuclear phagocytic system
5. phagocytose bacteria, cells, tissue debris. express MHC II molecules. get rid of rbc's

Front 277

Platelets (thrombocytes)
1. are these cells?
2. derived from what?
3. life span?
4. receptors for what?
5. bind to what?
6. release what after binding?

Back 277

1. no
2. megakaryocytes
3. 10 days
4. collagen IV
5. basement membrane
6. clotting factors

Front 278

Granules of the platelet:
1. alpha dense granules
2. Dense Core Granules
3. what else in the platelet?

Back 278

1. contains PDGF, released at site of wound and induces surrounding cells to undergo mitosis
2. releases serotonin, histamine, atp and adp, facilitates platelet adhesion and causes vasoconstriction in the area
3. Lysosomes and peroxisomes are also in the platelet

Front 279

the bulk of a clot is what?

Back 279

fibrin

Front 280

1. formation of blood cells is called what?
2. in early life, where?
3. in later life, where? (after born)
4. key singnal for red cell production is what? is released where?
5. developmental and differentiation processes are controlled by
6. how many liters of bone marrow does an adult have?

Back 280

1. hemopoiesis
2. liver and spleen
3. bone marrow
4. erythropoietin, released in the kidney
5. cytokines and local cell cell interactions in teh marrow
6. 2

Front 281

1. pluripotent cell
2. multipotential stem cell
3. committed progenitor cell
4. precursor cells
5. mature cell

Back 281

1. gives rise to all types of blood cells
2. specific but wide range of blood types
3. committed progenitor cells
4. undergoing structural differentiation

Front 282

Nerves classified on:
1. Exit
2. Function
3. Derivation
4. Destination

Back 282

1. from bony encasement. i.e. cranial vs spinal nerves
2. of majority of contained fibers, like motor vs sensory
3. from single or multiple spinal cord segment
segmental vs peripheral
4. Destination of contained fibers
somatic/parietal (body wall) vs splanchnic/visceral (inside body)

Front 283

SHAPES

What type of neuron forms sensory neurons?

What type of neuron forms motor neurons?

Back 283

pseudounipolar, bipolar

multipolar

Front 284

What are the three divisions of the meninges?

Where is the CF?

Back 284

From outside to inside:
Dura mater
Arachnoid layer
Pia mater

between arachnoid and pia mater

Front 285

What is the difference between:
1. Nerve fiber
2. Nerve

Back 285

1. ONE SINGLE AXON

2. a collection of nerve fibers

Front 286

What are the two types of nerves in the PNS?

Back 286

Spinal nerves

Cranial nerves

Front 287

Spinal nerves: mixed or no?

Cranial nerves: mixed or no?

Back 287

mostly mixed

some are sensory, motor or mixed. Not as mixed as spinal

Front 288

The nerve in the spinal cord is split into posterior and anterior rami. What does
1. posterior rami innervate
2. anterior rami innervate

Back 288

1. muscles of back, skin, and joints of vertebral column
2. EVERYTHING ELSE

Front 289

How many neurons in the sensory system?

Back 289

One neuron! Connects spinal cord to peripheral nervous system

Front 290

type of neuron, location of cell body, route taken to CNS:
1. Sensory
2. Motor

Back 290

1. pseudounipolar, dorsal root ganglion, dorsal root
2. multipolar, gray matter of spinal cord, ventral root

Front 291

Somatic motor system:
How many neurons from CNS to effector?

Back 291

ONE NEURON. From spinal cord alllll the way to your huge flexing bicep

Front 292

Are motor neurons of somatic system inside the CNS?

Back 292

yes. they are in the gray matter of the anterior root

Front 293

Visceral Motor system:
1. How many neurons?
2. Where are presynaptic cell bodies?
3. Where are postsynaptic cell bodies?
4. What are the effector organs?
5. Where does the synapse occur in relation to the CNS?

Back 293

1. 2 neuron system
2. lateral horn of gray matter of spinal cord
3. ganglion
4. Smooth muscle, glands, pacemaker cells of heart
5. Outside the CNS in autonomic ganglion

Front 294

Dermatome

Back 294

unilateral area of skin innervated by sensory fibers of a single spinal nerve

Front 295

Myotome

Back 295

unilateral muscle mass receiving innervation from the fibers conveyed by a single spinal nerve

Front 296

How are dermatomes different than cutaneous nerve?

Back 296

Dermatomes are an area of skin supplied by a single nerve fiber

cutaneous nerve is an area of skin supplied by a peripheral nerve

Front 297

Plexus formation
One single nerve can have roots from several...

One single nerve fiber can end up in multiple...

Back 297

nerve fibers

nerves

Front 298

Cranial nerves have same types of fibers as spinal nerves but have three special types of fibers that may also include:
1. SSA
2. SVA
3. SVE

Back 298

1. Special Somatic Afferent - vision, hearing, equlibrium
2. Special visceral afferent - smell and taste
3. Special visceral efferent - skeletal muscle w/ mastication and facial expressions

Front 299

NERVOUS SYSTEM PART 2

Back 299

IT MAKES ME NERVOUS, TOO

Front 300

1. What region of the spinal nerve is sympathetic nervous system innervated by?

2. What region of the spinal nerve is parasympathetic nervous system innervated by?

Back 300

1. Thoracolumbar

2. Craniosacral

Front 301

Sympathetic nervous system:
1. Where do presynaptic cell bodies originate?
2. What does the above structure form?
3. Where is the above structure located in the spinal cord?
4. How long is presynaptic fiber?
5. How long is postsynaptic fiber?

Back 301

1. lateral horn of gray matter
2. in a stack it forms the intermediolateral column, or IML
3. T1-L2/L3
4. SHORT
5. LOOOONG

Front 302

where can I find a presynaptic neuron cell body of a sympathetic nervous system nerve?

Back 302

only in t1 through L2/3

Front 303

IML divisions
1. t1 through t6
2. t7-t11
3. t12-l2/3

Back 303

1. head, upper limbs, thorax, viscera forgut
2. abdominal
3. lower limb, pelvic

Front 304

Standard pathway of presynaptic sympathetic neurons
(6 steps)

Back 304

1. lateral horn
2. anterior root of spinal nerve
3. mixed spinal nerve
4. anterior ramus of spinal nerve
5. white ramus communicans
6. autonomic ganglion

Front 305

Components of sympathetic trunk (2)

Back 305

paravertebral ganglia + interganglionic connections

Front 306

3 sympathetic ganglia in the cervical region

Back 306

Superior cervical ganglion

middle cervical ganglion

interior cervical ganglion

Front 307

Is there white rami communicans throughout entire sympathetic trunk?

Back 307

NO. Only in T1 through L2/3. This is because there are only sympathetic presynaptic cell bodies in T1-L2/3.

but there are gray rami communicans the whole way through. You can exit anywhere

Front 308

Functions of sympathetic neurons:
1. Vasomotion
2. Sudomotion
3. Pilomotion

Back 308

1. blood vessel diameter changing
2. sweating
3. makes your hair stand on end

Front 309

when presynaptic neuron axon enters sympathetic trunk and needs to go up, does it synapse immediately or synapse at its destination?

Back 309

At it's destination

Front 310

Periarterial plexus

Back 310

the structure when nerve fiber needs to go somewhere and just 'grabs a ride' on a nearby blood vessel

Front 311

reminder card:

Back 311

check out clinical vignettes in anatomy book

Front 312

Which spinal nerves have gray rami communicans?

Which spinal nerves have white rami communicans?

Back 312

all 31!

T1-L2/3

Front 313

Cephalic arterial rami
1. where do these go?
2. arise from?
3. produce what?

Back 313

1. periarterial plexuses of cartotid artery

2. cervical ganglia

3. vasomotion, sudomotion, pilomotion

Front 314

Cardiopulmonary splanchnic nerve pathways contain what kind of nerve fibers?

Back 314

post synaptic

Front 315

abdominopelvic splanchnic nerve pathways contain what kind of nerve fibers.

Back 315

pre synaptic. Because the sympathetic trunk isn't good enough for them and they hook around and synapse at the prevertebral ganglia

Front 316

What is orientation of splanchnic nerve to sympathetic trunk

Back 316

medial

Front 317

Suprarenal medulla
1. where does presynaptic neuron synapse?
2. What functions as postsynaptic neurons?
3. what does this do?

Back 317

1. on the suprarenal medulla itself! bypasses both the paravertebral ganglia (on sympathetic trunk) and the prevertebral ganglia and goes right to the organ.
2. cells of suprarenal medulla
3. when activated it sends out norepinephrine

Front 318

Which cranial nerves are parasympathetic?

Back 318

III, VII, IX, X

Front 319

Parasympathetic is craniosacral. The last card looked at cranial system.
What part of sacral system is parasympathetic?

which part is more dominant? cranial or sacral?

Back 319

S2-S4

cranial

Front 320

Parasympathetic system
1. Presynaptic neuron is how long?
2. Where does presynaptic neuron synapse?
3. post synaptic neuron is how long?

Back 320

1. looooong
2. on the organ itself. Many organs have intrinsic ganglia.
3. short.

Front 321

Sympathetic nervous system is pretty extensive. Is the parasympathetic system extensive?

What one body wall component does it innervate?

are parasympathetics components of spinal nerves or peripheral branches?

Back 321

1. No. it is limited to internal organs and glands of head and body cavities
2. erectile tissue
3. NO

Front 322

The large intestine is divided into ascending colon, (right cholic flexure) transverse colon, (left cholic flexure) and descending colon.

What is the dividing line that separates cranial innervation from sacral innervation?

Back 322

Right after the left cholic flexure

Front 323

Splanchnic nerves are afferents and efferents

Back 323

BOTH

Front 324

ABDOMEN

Back 324

THE BELLLLY

Front 325

Anterior Abdominal Wall
1. Bounded superiorly by the...
2. Bounded inferiorly by the...

Back 325

1. 7th rib, 10th rib, and xiphoid process
2. inguinal ligament, uppermost margins of the pelvic girdle

Front 326

Abominal wall layers
6 layers
from outside in, go:

Back 326

skin
subcutaneous fat aka camper fascia
External oblique
Internal oblique
Transversus abdominus
Extraperitoneal fat

and there's fascia all up in between each of those

Front 327

muscles that help flex the trunk??

Back 327

erector spinae

i dug these out today in lab. crazy.

Front 328

What is the major muscle of trunk flexion? like when you do a sit up?

Back 328

Psoas major and minor

Front 329

9 sections of stoamch

Back 329

two midclavicular lines for lateral
across the body: line at subcostal area
line at iliac crest

down the sides: HLI
hypocondrial
lateral
inguinal

the middle 3 spaces, top to bottom:
epigastric
umbilical
pubic

Front 330

Stomach
1. Cardia
2. Fundus
3. Body
4. Pyloris
5. lesser curvature
6. greater curvature

Back 330

1. trumpet shaped opening of the esophagus into the stomach
2. dilated by gas, fluid, or food, superior part of stomach, sits up next to the diaphragm, close to left 5th intercostal space
3. major part of the stomach
4. funnel shaped region controls discharge of stomach contents. Has a sphincter.
5. top curvature, less of it
6. bottom curvature (to the right) more of it

Front 331

Peritoneal formations
1. Messentery
2. Peritoneal Ligament
3. Omentum
4. Peritoneal fold

Back 331

1. double layer of peritoneum (visceral and parietal) that occurs as an invagination by an organ and provides a conduit for neurovascular and lymphatic structures
2. double layer of peritoneum that connects one organ with another organ or body wall
3. double layer extension of peritoneum passing from the stomach to adjacent organs
4. rasied reflection of peritoneum on the body wall

Front 332

Mobility:
1. Intraperitoneal
2. Retroperitoneal

Back 332

1. Inside peritoneum, pretty movable. the stomach is intraperitoneal and it is movable
2. behind the peritoneum, fixed to posterior body wall, not very movable

Front 333

Duodenum: Relational organs
1. 1st part
2. 2nd part
3. 3rd part
4. 4th part

Back 333

1.
2. part that pancreas, liver, gall bladder dump digestive enzymes into. Right kidney is right up next to it. Liver is pretty close too.
3. Inferior vena cava and aorta are posterior. Superior Mesenteric Artery and Vein run anterior to it.
4. left kidney, left cholic flexure

Front 334

ligament of treitz

Back 334

this holds the steep angle of the 4th part of the duodenum, secures it for the jujunum

Front 335

Jejunum versus Ileum
First trait is of jejunum, second is of ileum
1. color
2. wall
3. Vascularity
4. Vasa recta (long or short)
5. Arcades
6. Fat
7. Peyer's patches
8. Plicae circulares

Back 335

1. red, pink
2. thick, thin
3. greater, less
4. long, short
5. a few large loops, many short loops
6. less, more
7. No, Yes - towards terminal part of ileum
8. more and larger, less and smaller

Front 336

Cecum
1. what quadrant is it in?
2. it is enveloped in peritoneum?
3. does it have messentary?
4. ileal orifice
5. blind?

Back 336

1. right lower quadrant
2. Yes
3. Noooo
4. where ilium meets cecum
5. blind.

Front 337

Appendix:
where does it attach?

Back 337

the cecum

Front 338

Psoas sign for appendicitis

Back 338

patient lays with right side (or appendix side) facing up. Extend thigh. This will stretch psoas muscle, and will hurt the appendix if you have appendicities. If pain is there, it is a positive psoas sign.

Front 339

Does appendix always appear in the same place?

what actively moves it in life?

Back 339

No it can be formed all over.
even on the other side!

pregnancy!

Front 340

Order of large intestine:

Back 340

Cecum, ascending colon, right cholic (hepatic) flexure, transverse colon (say hi to the duodenum) left cholic flexure, descending colon (switch from cranial nerve X parasympathetic innervation to sacral innervation), Sigmoid colon (s shaped) rectum, anus

Front 341

Large intestine:
1. Teniae coli
2. Haustra
3. Omental appendices
4. Ascending and descending colon peritoneal location
5. Transverse colon peritoneal location

Back 341

1. thicked bands of longitudinal muscle fibers
2. pouches of colon between the teniae
3. small, fatty appendices
4. retroperitoneal so they are not moving around much
5. intraperitoneal, so it can moooove around

Front 342

positions of large intestines

Back 342

can be variable

transverse colon can be all up in the lower quadrant

sigmoid colon can be on the right side

Front 343

Spleen
Relationships
1. Anteriorly
2. Posteriorly
3. Inferiorly
4. Medially

Back 343

1. stomach
2. diaphragm
3. left cholic flexure
4. left kidney

Front 344

What is the most frequently injured organ in the abdomen?

What characteristics of the spleen make it prone to injury?

What does rupture of the spleen cause?

Back 344

1. the SPLEEN

2. thin capsule, soft and pulpy parenchyma

3. severe intraperitoneal hemorrhage, shock

Front 345

Pancreas
1. Where is the head?
2. What does the tail tickle?
3. What is its relation to the SMA and SMV?

Back 345

1. being hugged by the duodenum
2. spleen
3. SMA and SMV run behind and to the left of pancreas, then hop up and run over the duodenum! How crazy is that?!?

Front 346

Surfaces of the liver
1. Diaphragmatic
2. Visceral surface
3. Subphrenic recesses
4. Hepatorenal recess

Back 346

1. top surface of liver.
2. Bottom surface of liver
3. extensions of peritoneal cavity between liver and diaphragm
4. deep recesss of peritoneal cavity below the liver on the right, in front of the kidney

Front 347

the Liver
1. runners stitch on right side is caused from what?
2. runners stitch on left side is caused from what?
3. How is liver connected to diaphragm?
4. Bare area of the liver

Back 347

1. dang ol liver filling up with blood and hanging off of diaphragm
2. gas pain after eating
3. coronary ligament - at least, this is the largest one
4. diaphragmatic surface of the liver that has no covering and is directly attached to diaphragm

Front 348

Liver
1. What separates anatomic right and left lobe of liver?
2. What attaches liver to diaphragm?
3. What other lobes arise from the right lobe and where are they?
4. What structure is associated with quadrate lobe?
5. What structure is associated with Caudate lobe?
6. The veinous system travels through what?
7. where is the gall bladder housed?

Back 348

1. Falciform ligament
2. Coronary ligament
3. On posterior surface, on left side of right lobe, on top: caudate lobe. on bottom: quadrate lobe.
4. gall bladder
5. IVC
6. left sagital fissure.
7. right sagital fissure

Front 349

Gallbladder
1. Three parts of gallbladder
2. Where does it connect to?
3. Where in the duodenum does it empty?

Back 349

1. fundus, body, neck
2. comes out of cystic ducts, joints hepatic duct, runs into bile duct
3. The 2nd part

Front 350

Bladder
1. in males, position relative to prostate?
2. in femailes, position relative to uterus?

Back 350

1. superior
2. anterior

Front 351

Suprarenal glands
1. where are they
2. what is the right one shaped liked? what is it close to?
3. what is the left one shaped like? What is it close to?

Back 351

1. on top of the kidneys
2. pyramid - IVC
3. crescent - close to the spleen and stomach and pancreas are in front

Front 352

Diaphragmatic aperatures
What goes through? What vertebrate number?
1. Caval opening?
2. Esophagal opening?
3. Aortic hiatus
4. Medial arcuate ligament, lateral acruate ligament

Back 352

1. IVC - T8
2. esophagus - t10
3. aorta. left cruc and right cruc - t12
4. Psoas muscles

Front 353

where is the lower esophageal sphincter located in reference to diaphragm?

Back 353

Right below it

Front 354

Normal esophageal constrictions
1. Cervical constriction
2. Thoracic constriction
3. Diaphragmatic constriction

Back 354

1. when we change from cartilage to tracheal rings...?
2. bifurcation of trachea into bronchi and arch of aorta make natural depression on esophagus
3. narrowed as it goes through diaphragm

Front 355

Branches of the abdominal aorta as soon as it gets past the diaphragm.
1. Unpaired visceral:
2. paired visceral:
3. paired parietal:

Back 355

1. Celiac trunk
superior mesenteric
inferior mesenteric
2. suprarenal
renal
gonadal
3. subcostal
inferior phrenic
lumber

Front 356

Branches of abdominal aorta: the ones we need to know, and at which vertebrae
1. Celiac trunk
2. Superior mesenteric artery
3. Inferior mesenteric artery
4. bifurcation of the aorta

Back 356

1. t12
2. L1
3. L3
4. L4

Front 357

Nutcracker syndrome
1. What is the artery that supplies the small intestines and what vertebrate does it come from?
2. What does it go over?
3. What happens when people lose weight and develop nutcracker syndrome?

Back 357

1. superior mesenteric artery, L1
2. left renal vein
3. people lose fat in their small intestines, small intestines pull down superior mesenteric artery, it pinches left renal vein like a nutcracker

Front 358

NUTCRACKER SYNDROME:
other problems
1. it also compressed what?
2. what does this make the pt do?
3. what does compressing left renal vein do, exactly?

Back 358

1. the 3rd part of the duodenum
2. throw up stuff that can't be passed
3. causes expansion of vein. what comes off the left renal vein? gonadal vein. Varicocoel in men makes balls big and dilated.

Front 359

What do the following arteries supply?
1. Superior mesenteric artery
2. Inferior mesenteric arter

Back 359

1.small intestines, ascending, transverse part of large intestine
2. descending colon.

anastomose in the middle! yay!

Front 360

Kidneys
1. What vertebrae do they arise at?
2. Which is the longer renal artery?
3. relation to IVC?

Back 360

1. between L1 and L2
2. Right is longer. Aorta is on the left side.
3. Posterior to IVC

Front 361

If I wanted to retract the ureters
1. above the pelvis
2. below the pelvis

Back 361

1. medially
2. laterally

basically, pull it towards the aorta

Front 362

IVC
1. Goes down right or left side?
2. Where does it pierce the diaphragm?
3. Where does it bifurcate?
4. The IVC is longer or shorter than the Aorta in the abdominal cavity?

Back 362

1. Right side
2. T8
3. L5
4. Longer

Front 363

Splanchnic nerves. Thoracic sympathetic trunk numbers, prevertebral ganglia
1. greater
2. lesser
3. least

Back 363

1. t5-t9 level, celiac ganglia
2. t10 to t11 level, superior mesenteric ganglia
3. T12 level, aorticorenal ganglia

Front 364

1. celiacs
2. sma's
3. ima's

Back 364

1. stomachs
2. small intestine
3. lower portions

Front 365

go back and check out last ars question of abdominal lecture from elzie

Back 365

okay, I'll do that

Front 366

MEDICAL TERMINOLOGY

Back 366

terms of the medical

Front 367

Medical terms have three componet parts:

Back 367

word root
prefix
suffix

mal/format/ion

bad / a shaping / process

chemo / therapy

chemo is combining form
therapy means treatment

Front 368

What terms describe:

Back 368

shape
form
attachments
position
function

Front 369

PLANES
1. Plane that divides body down the middle
2. Plane that is parallel to plane that divides body down the middle
3. Plane that divides body into anterior and posterior halves
4. Plane that divides body into superior and inferior portions

Back 369

1. median plane
2. sagittal plane
3. coronal plane
4. horizontal or transverse plane

Front 370

Anatomical position:
1. upper limbs
2. lower limbs

Back 370

1. by the side, palms forward
2. closed together

Front 371

Movements:
1. Opposition of the thumb and pinky
2. reposition of thumb and pinky

Back 371

1. thumb and pinky touch
2. thumb and pinky go back to anatomical position after opposition

Front 372

Body cavities (boundaries)
1. Thoracic cavity
2. Abdominal cavity
3. Pelvic cavity

Back 372

1. superior - superior thoracic aperature.
inferior - thoracic diaphragm
anterior - sternum
posterior - thoracic vertebrae
2. superior - thoracic diaphragm
inferior - superior pelvic aperature...

this is wasting toooo much time

Front 373

Cranial cavity contains what?

spinal cavity contains what?

Back 373

the brain!

aka vertebral canal. contains spinal cord and proximal parts of spinal nerves

Front 374

Potential cavity
1. normally, do these spaces contain anything?
2. what do these allow?
3. what are some examples?

Back 374

1. No. only a microscopic amount of fluid that lubricates surfaces
2. organ movement
3. pericardium surrounds card. pleural cavity surrounds the lungs. peritoneum surrounds abdominal cavity

Front 375

Surface anatomy: thorax
1. When you count ribs, where can you start?
2. Clavicle meet to form
3. located between the sternum body and xiphoid process
4. this verticle line runs through or near the nipple and up through middle of clavicle

Back 375

1. sternal angle. Marks 2nd costal cartilage.
2. jugular notch
3. Xiphisternal joint
4. midclavicular line

Front 376

what is that notch you've always had at bottom of your chest?

Back 376

xiphisternal joint

Front 377

axillary lines
1. anterior axillary line
2. posterior axillary line
3. mid axillary line

Back 377

1. in front of mid axillary line
2. behind mid axillary line
3. line that stretches from axillary fossa down the side

Front 378

Projection of lung and pleurae into thoracic wall
1. what is space between inferior border of pleura?
2. how is fluid in this recess removed?
3. why do anterior borders of left pleura and left lung deviate?
4. what does this do?
5. what does this allow?

Back 378

1. costodiaphragmatic recess
2. thoracentesis
3. to make room for the heart
4. exposed anterior area of pericardium
5. removal of fluid accumulation in the pericardial cavity by inserting a needle between 5th and 6th intercostal spaces

Front 379

Thoracentesis:
1. what does it do
2. where is the needle inserted?
3. orientation of needle?

Back 379

1. removes fluid from costodiaphragmatic recess
2. 9th intercostal space
3. superiorly

Front 380

stick a needle where to drain the pericardium?

Stick a needle where to drain pleural cavity?

during thoracentesis, DON'T HIT THE

Back 380

into the left 5th or 6th intercostal space

9th intercostal space

INTERCOSTAL NERVE OR COLLATERAL BRANCH OF INTERCOSTAL NERVE

Front 381

Points of aescultation
1. what are they?
2. do they mark anatomical positions of heart valves?

Back 381

1. areas where sounds from each of the heart's valves may be heard most distinctly
2. NO.

Front 382

Valves
1. A
2. P
3. T
4. M

Back 382

1. Aortic valve
2. Pulmonary valve
3. Tricuspid
4. Mitral

Front 383

Adominal landmarks
1. ASIS
2. Pubic Tubercle
3. Epigastric fossa
4. linea alba
5. inguinal ligament

Back 383

1. Anterior superior iliac spine. anterior end of iliac crest. Both spine and crest are palpable.
2. palpable prominence of pubic bone later to symphysis
3. depression between costal margins. pain from heartburn often felt here.
4. midline structure where the aponeuroses of three flat muscles intersect
5. runs from ASIS to pubic tubercle. marked by a skin crease. inguinal groove

Front 384

Gallbladder
1. location
2. what happens when patient takes deep breath?
3. Cholecystitis word meaning
4. What is the name of pain upon gall bladder palpation?

Back 384

1. right side, 9th costal rib, midclavicular line
2. diaphragm descends, pushes liver and gallbladder down. if inflamed, elicits pain.
3. chole = bile, cyst = bladder or sac, itis = inflammation
4. murphy's sign

Front 385

Appendix
1. what is the point where appendix is usually located? where is it?
2. one explanation for various positions of appendix?

Back 385

1. McBurneys point. Draw a line starting at ASIS to umbilicus, 1/3 the distance
2. failure to descend during normal embryonic development

Front 386

Superficial inguinal ring
1. what is it
2. where is it
3. Inguinal hernias are what?
4. Inguinal hernias can be palpated where?
5. what does coughing do?

Back 386

1. opening at one end of the inguinal canal
2. superolateral to pubic tubercle
3. protrusion of abdominal viscus, like loop of small intestestine, into inguinal canal
4. at the superficial ring
5. increase intraabdominal pressure

Front 387

GENETIC INHERITANCE 4:

Back 387

finally at the end of this cluster

Front 388

Imprinting is what kind of modification?

Back 388

Epigenetic

Front 389

What is the locus for angelman and prader willi syndrome?

Back 389

15q13

Front 390

Angelman syndome is caused by....

Prader Willi is caused by...

Back 390

absence of maternal copy of 15q13

absence of paternal copy of 15q13

Front 391

three ways to get prader willi syndrome

Back 391

your father gives you a chromosome that is deleted at the 15q13 region

your father is unable to reset the imprint on chromosome 15q13

your mother gives two copies of her imprinted 15q13

Front 392

Trisomic rescue
1. What is a common mechanism for inheriting angelman or prader willi syndrome?
2. What is the most common mechanism?
3. process of trisomic rescue in this case, and what can happen

Back 392

1. Nondisjunction. disorders that involve a failure to reset imprint are rare.
2. uniparental disomy from trisomy rescue
3. zygote is formed with 3 copies of chromosome 15 (from nondisjunction). Spontaneous abortion...OR...zygote kicks out a chromosome. 1 in 3 chance it will kick out paternal gene. Baby develops prader willi due to absence of chromosome 15

Front 393

Nondisjunction
1. Meiosis 1 causes...
2. Meiosis 2 causes...

Back 393

1. uniparental heterodisomy
2. uniparental isodisomy

Front 394

1. Mendelian inheritance
VS
2. Complex genomics

Back 394

1. mutation is necessary and sufficient to produce phenotype
2. gene + environment --> phenotype

Front 395

MAO genotype and antisocial behavior
1. If you were treated badly in early life, you had around 50% risk for criminal behavior later in life. Why not 100%
2. If you have lower MOA, you are more likely to be

Back 395

1. Because of Monoamine oxidase activity
2. aggressive

Front 396

1. Qualitative trait:

2. Quantitative trait

Back 396

1. present or absent. achondroplasia, cleft lip. Yes or No traits
2. measured along continuum. determination of normal vs disease is not always straightforward
height, hypertension

Front 397

Multifactorial traits

Back 397

trait has genetic and environment contribution

Front 398

Familial clustering
1. Concordant
2. Discordant

which is conclusive of the presence or absence of genetic link?

Back 398

1. same disease seen in family members. phenocopies = same trait with different genetic causes, shared environment
2. disease not always seen in family members. individuals may share genotype, but lack environmental exposure

NEITHER

Front 399

Measure of familial aggregation
1. Lambda r
2. if lambda r = 1, what is the genetic contribution?
3. If lamda r is higher than 1, what does this suggest

Back 399

1. measure of disease prevalence in 1st degree relatives over disease prevalence in population
2. NO GENETIC CONTRIBUTION
3. maybe a genetic contribution

Front 400

The closer the relative, the ______ percentage of shared genes

Back 400

greater!

Front 401

Models of MF inheritance:
1. Polygenic
2. Threshold

Back 401

1. additive effects of multiple genes (quantitative trait)
2. factors exceed 'cut-off' presence or absence of trait/disease

Front 402

What is the carter effects?

Back 402

shows that there are different thresholds for males in females in qualitative traits

Front 403

Pyloric stenosis:
1. A female has a baby boy. High or low recurrence risk?
2. A male has a baby girl. High or low recurrence risk?

Back 403

1. highest! compared to sister
2. lowest! compared to brother

Front 404

Cleft lip with or without cleft palate
1. what does recurrent risk depend on?

Back 404

severity. the more severe, the more genetic
number of other affected family members

Front 405

Emperic recurrence risk rules
1. recurrence risk is higher if
2. Severe expression: higher or lower recurrence risk?
3. Risk is higher if proband is of least frequently affected...
4. Risk drops precipitously with increasing distance from
5. Risk for offspring and siblings of a proband is the square root of the...

Back 405

1. >1 family member is affected
2. Higher risk
3. sexes
4. proband
5. prevalence of disease
NEVER USED CLINICALLY

Front 406

Empiric Risk Counseling for Multifactorial Disorders
CAUTIONS
three

Back 406

1. The possibility of an underlying single gene or chromosomal disorder must be considered

2. Due to etiologic heterogeneity, empiric recurrence risks represent averages. Actual risks may differ in different populations

3. Recurrence risk increases with proximity of relationship with the proband and with the number of affected individuals in the family. There may be gender differences in risk.

Front 407

Genetics of common disorders
1. Diabetes
2. Cardiovascular disease
3. HIV infection

Back 407

1. type 1 is modestly genetic. type 2 is highly genetic
2. some populations say its highly genetic, others don't. inflammatory genes are a gene of interest
3. polymorphisms in chemokines and receptors protect against infection. Polymorphisms exist in some people make them 100% resistant to HIV infections

Front 408

Healthy old people! long telomeres?

Back 408

Yes, long telomeres.

Front 409

The average number of new mutations in a sperm or egg cell is closest to

Back 409

10

Front 410

Scale of genetic change
how many changes for chromosome abnormality:

how many changes for nucleotide change

Back 410

10 to the 8th

1

Front 411

Single Nucleotide changes:
1. change in promotor sequence
2. change in exon expression
3. change in exon-intron border

Back 411

yeah

Front 412

Sickle cell anemia
1. which subunit
2. AA change

Back 412

1. Beta subunit
2. Glutamic Acid to Valine

Front 413

Point mutations
1. Silent mutation
2. conservative mutation
3. non conservative
4. stop mutation
5. frameshift mutation

Back 413

1. a mutation where a base is changed to another base but codes for the same protein
2. when there is an AA substitution where AA with similar properties are switched
3. AA switch with very different properties of AA
4. premature termination due to stop codon
5. shift the reading frame, either addition or deletion

Front 414

RNA splicing
1. dependent on what?
2. splice donor sequence
3. splice acceptor sequence

Back 414

1. base sequence
2. GU
3. AG

Front 415

RNA splicing mutations
1. splice preceding exon to following exon, causing
2. 'next best' acceptor
3. silent mutations?

Back 415

1. exon skip. shorter by loss of one exon
2. if spliceosome doesn't recognize acceptor, it will splice somewehre else, another thing that looks like an acceptor. mutaiton. could end in stop codon, faulty AA
3. may not change AA sequence, but if part of a splice site, enhancer, could change THAT.

Front 416

Indels
1. what are they?

Back 416

mutations that have multiple insertions and deletions. Like, losing 8 bases, adding one

Front 417

Myotonic dystrophy
1. what kind of mutation
2. myotonia?
3. mutation is repeat of what triplet?
4. how many repeats you need for myotonic dystrophy?
5. Anticipation

Back 417

1. short tandem repeat, triplet repeat expansions
2. when you grab something, it is tough to let go
3. CTG
4. over 50
5. Severity of disorder becomes more significant from one generation to the next

Front 418

Triplet repeat disorders:
1. affect mostly what system?
2. fragile X syndrome
3. huntingdon

Back 418

1. nervous system
2. CGG repeat in promotor region, turns gene off. affects mostly males.
3. Glutamine repeat. CAG repeat. intellectual disorder

Front 419

Multiexon deletion
1. duchenne disorder
2. Becker dystrophy
3. why is duchenne so much worse than becker?
4. exons code what?

Back 419

1. gait disorder, childhood. over the years, boys become worse. survival rate is low.
2. milder version of duchenne.
3. alternative splicing gone awry. several exons are left out and reading frame is not preserved - duchenne. several exons are left out and reading frame IS preserved - longer dystrophin - becker.
4. dystrophin. instability of muscle membrane without this.

Duchenne disease - frameshift mutation

becker - not a frameshift mutation.

duchenne and becker dystrophy can also arise from duplications

Front 420

Variable number tandem repeats
1. repeats of how many base pairs?
2. polymorphic?
3. Insulin related DNA polymorphism: how many bp per repeat?
4. Type 1 diabetes increased risk:
5. Type 1 diabetes decreased risk

Back 420

1. 14-100
2. exact # of repeats is different in individuals. Useful for paternity test!
3. 14
4. 26-33 repeats
5. > 141 repeats

Front 421

Chromosome microdeletion
1. what does it mean?
2. Leads to what?
3. An example:
4. How does this happen?

Back 421

1. deletion of several genes
2. haploinsufficiency
3. 22q11, or ViloCardioFascial
4. Non allelic homologous recomination, or unequal crossing over. LCR1 and LCR2 mispair (low crossing repeats and crossing over releases unequal sizes of dna

Front 422

Chromosomal rearrangement
1. Intragenic...
2. An example
3. pretty cool mechanism, hard to put on a card
4. is anything lost or gained?

Back 422

1. recombination
2. hemophilia A, sex linked, factor 8 gene
3. yeap
4. No. just rearrangement

Front 423

Red Green colorblindness
1. duplication of what chromosome?
2. what percentage of males have this?
3. RG color genes are themselves

Back 423

1. X chromosome
2. 8%
3. LCR

Front 424

Recessive allele:
1. what do recessive genes usually code?
2. Why is enzyme production linked to recessive alleles?

Back 424

1. enzymes!
2. because we often produce more enzymes than we need
3. homozygous recessive: no enzymes being produced, sad day.
heterozygous recessive, some enzyme being produced, we're good
homozygous dominant, we're good

Front 425

Marphan's syndome
1. what is it?
2. major issue:
3. Major Gene mutation:
4. mechanism
5. what is haploinsufficiency?

Back 425

1. connective tissue disorder, causes long fingers
2. weakens wall of aorta. very serious
3. Fibrillin 1
4. fibrillin acts as a sponge for growth factor TGF-b. modulates expression and access to cells in tissue. Absence of fibrillin means upregulation of TGFb and tissue is compromised.
how to fix? block TGFb.
5. having half the amount of protein is not enough for proper function

Front 426

Dominant negative
1. example
2. 50% reduction in collagen produced means what kind of reduction in collagen used?

Back 426

1. Osteogenesis imperfecta
2. 75% reduction

poisoning the system

Front 427

Gain of function mutation
1. example
2. what receptor is involved
3. What does it do
4. which in turn does what to the growth plates?

Back 427

1. achondroplasia
2. FGFR3
3. when it's ligand is bound, cartilage turns to bone
4. stops them from growing

Front 428

1000 genome project:
1. Each person has how many loss of function variants in annotated genes?
2. Each person has how many variants in inherited disorders?
3. what is the rate of de novo germline base substitution mutations?
4. in principle, what does this mean

Back 428

1. 250-300
2. 50 to 100
3. 10 to the -8.
4. If there are 10 to the 8 sperm per ejaculate, every base could be mutated in at least one sperm cell and each germ cell has around 10 mutations

Front 429

Paternal Age effect
There is a correlation of de novo mutations increased linearly with...

Back 429

the age of the father at the time of the conception of the child

genes with autism, schizophrenia, and stuff

Front 430

Genetic testing differs from conventional testing how?

Back 430

A specific genetic test is usually done only once

Front 431

Is there high regulation for genetics labs?

Back 431

NO. fda doesn't regulate it

Front 432

Genetic testing:
Diagnostic
(4)

Back 432

Symptomatic
Presymptomatic
Carrier
Prenatal

Front 433

Genetic testing:
Predisposition

Back 433

Common disease (diabetes II)
Pharmacogenetic

Front 434

Targeted Testing:
Sickle Cell Anemia
1. One kind of test

Back 434

1. PCR and running a gel after cutting it up with nuclease

Front 435

Sanger sequencing

Back 435

you put in random places for dna replication to stop, then build a list of growing bars, based off color, learn the sequence

Front 436

DNA sequencing

Back 436

can find mutations
graph with forward and reverse strands

Front 437

Cystic fibrosis
1. this comes from a mutation of what structure? and that causes what?
2. What is the 'hot spot'?
3. What population is this prevalent in?
4. mechanism of mutation?

Back 437

1. chloride ion channel. cannot expel chloride ion out of cell, cannot take water with it. Without water, everything is sticky.
2. 508 is the hot spot.
3. northern european
4. loss of function. single base deletion.

Front 438

Prenatal testing
1. Amniocenesis
2. Chorionic villus biopsy
3. preimplantation diagnosis

Back 438

1. most common. 16-18 weeks of gestation, take amniotic fluid
2. taking a chunk out of the placenta
3. take single cell at 8 cell stage and test it for genetics. only implant embryos that don't have genetic disease

Front 439

Common diseases tested for Carrier Testing

Back 439

Cystic fibrosis
Tay Sachs
Hemoglobinopathies
Gaucher disease
Canavan disease

Front 440

Presymptomatic Diagnosis
Huntington disease
1. Psychological counseling and regulation?

Back 440

1. Yes

Front 441

Predispositional testing:
Factor V Leiden
1. Factor 5 is an enzyme that
2. Factor 5 is deactivated by
3. Mutation in factor 5 makes it...
4. location of codon, base substitution
5. higher risk of what?

Back 441

1. cleaves prothrombin to thrombin
2. activated protein kinase C
3. immune to cleavage by protein kinase C
4. position 506, arginine to glutamine
5. deep vein thrombosis in carriers

Front 442

TRANSCRIPTIONAL REGULATION

Back 442

this guy cured sickle cell anemia in mice. wow.

Front 443

What direction does the RNA polymerase move along the DNA strand?

what is the dna strand called that the rna is attached to?

what direction does the rna grow?

Back 443

3' to 5'

the template strand

5' to 3'

Front 444

transcription in prokaryotes is initiated by rna polymerase holoenzyme, with these subunits:

the core enzyme:

the holoenzyme:

which part helps bind to the promotor?

Back 444

aabb's

aabb'


sigma factor (s)

Front 445

nucleotide sequences that identify the location of transcription start sites, where transcription begins

Back 445

promoters

Front 446

can the core polymerase transcribe dna to rna without the sigma factor?

Back 446

Yes, but it cannot bind to the dna without it

Front 447

by convention, which dna strand is shown in transcription when it's just a single strand?

Back 447

the non template strand, 5' to 3'

Front 448

Adding bases:
1. what are the building blocks used by mRNA polymerase to build a strand?
2. what chemical reaction involving these makes it thermodynamically favorable?

Back 448

1. ATP, UTP, GTP, CTP
2. hydrolysis of PPi to inorganic phosphate

Front 449

What are the four stages of transcription?

Back 449

1. binding rna polymerase holoenzyme to template dna at promotor sites
2. initiation of polymerization
3. elongation
4. termination

Front 450

Within promotor are two consensus sequence elements:
1. Pribnow box
2. -35 region

Back 450

1. near -10, ideal for unwinding, TATAAT, rich in A and T, forms only two hydrogen bonds
2. sigma unit binds here. D

Front 451

DNA footprinting
1. used to find what?
2. how does it work?

Back 451

1. spot on dna where proteins bind
2. label a spot of dna where proteins are thought to bind. incubate protein with labeled dna. add DNase. DNase will cut the dna, but NOT in the spot of protein binding. Intact DNA is spot of DNA binding

Front 452

RNA polymerase: two binding sites
1. initiation site
2. elongation site
3 when does the sigma subunit dissociate?

Back 452

1. prefers to bind ATP and GTP (most RNAs begin with a purine at the 5' end)
2. binds the second incoming
3. when 6-10 unit oligonucleotide has been made, completing initiation

Front 453

Elongation
1. What does gyrase do?
2. What does topoisomerase do?
3. What is the elongation enzyme?

Back 453

1. introduces negative supercoils
2. removes negative supercoils
3. core enzyme aabb'
4.

Front 454

Rho termination:
1. what exactly is rho?
2. what does it do?
3. RNA polymerase likely stalls in what region, allowing rho factor to overtake it

Back 454

1. atp dependent helicase
2. moves along RNA transcript, finds transcription bubble, unwinds DnA RNA hybrid and releases RNA chain
3. GC rich region

Front 455

Intrinsic termination
determined by termination sites of DNA, which consist of 3 structural features:

Back 455

inverted repeats rich in CG that form a stem loop structure

nonrepeating segment that punctuates the inverted repeats

a run of 6-8 As in the DNA template, coding for Us in the transcript

Front 456

Transcription regulation
1. genes for enzymes for pathways are grouped in clusters on the chromosome, called
2. allows coordinated expression through transcription in to a
3. What is the name of the regulatory sequence adjacent to operon?
4. so the regulation of transcription is done by

Back 456

1. operons
2. single polycistronic mRNA
3. operator
4. regulatory proteins and operators

Front 457

Induction and repression
1. Increased synthesis of enzymes in response to metabolite is
2. Decreased synthesis of enzymes in response to metabolite is
3. Some substrates induce enzyme synthesis even though the enzymes cannot metabolize the substrate. What are these substates called?

Back 457

1. induction
2. repression
3. Gratuitous inducers, like IPTG

Front 458

throwback:
what step of transcrption is highly regulated and thus the target of drug makers?

Back 458

INITIATION. primarly release of sigma factor

Front 459

How many base pairs is the open promoter complex?

Back 459

about 12

Front 460

When genes are common among many different creatures, this indicates

Back 460

FUNCTIONALITY.

like the pribnow box and -35 region of the promoter complex

Front 461

Is gyrase a kind of topoisomerase?

Back 461

yes

Front 462

IPTG

Back 462

gratuitous inducer, acts like lactose

Front 463

What kind of regulation controls the lac operon?

What is the product of the lacI gene?

Back 463

negative regulation

repressor tetramer

Front 464

Catabolite Activator Protein (CAP)
1. Provides what kind of control for the lac operon?
2. N terminus binds what?
3. C terminus binds what?
4. Binding of CAP-cAMP to DNA assists formation of

Back 464

1. Positive control
2. cAMP
3. DNA
4. closed promotor complex

Front 465

Catabolite activator protein (CAP)
1. Higher levels of glucose do what?
2. what are the binding sites for CAP-cAMP?
3. What does binding of CAP-cAMP do to the form of DNA?

Back 465

1. decrease cAMP availability, inactivate CAP
2. on the DNA, two different sites upstream of rna pol binding site
3. BENDS IT

Front 466

Action at a distance
(regulatory elements)

Back 466

regulation site is 100,000's bp upstream, can regulate DNA by looping back.

common in mammalian cells

Front 467

AraBAD operon
1. How controlled and by what?
2. situation if glucose is high
3. situation if glucose is low, l arabinose is present

Back 467

1. postively and negatively, by AraC
2. cAMP is low. AraC forms a dimer. loops DNA around, binds and prevents araBAD operon from being transcribed
3. cAMP is high, binds to CAP. structure binds to araC dimer, transcription is allowed

Front 468

What is trp operon regulated by?

Back 468

Negative circuit

AND attenuation

Front 469

Attenuation in trp operon:
1. what is it?

Back 469

any regulatory mechanism that regulates transcription TERMINATION or PAUSING to regulate gene expression downstream

Front 470

Attenuation of trp operon
1. what does trp operon do, first of all
2. leader sequences contain what to make sure there are enough AAs to proceed?
3. If ribosome reaches these leader sequences and has the right AA available, what happens?
4. If Ribosome reaches these sequences and slows down because these AA are not available, what happens?
5. why is this really really neat?

Back 470

1. makes tryptophan
2. codons that call for the AA being made
3. forms a termination loop and falls off, BECAUSE if it has that AA in abundance, it doesn't need to make it!
4. antiterminator loop forms, ribosome keeps transcribing
5. requires no energy!

Front 471

Attenutation can also be seen in what operon?

Back 471

HIS

Front 472

Why is DNA looping important

Back 472

DNA is a two dimensional structure and has limited spaces for protein binding.

DNA looping makes more interactions between proteins available

Front 473

GENE REGULATION - EUKARYOTES

Back 473

all about you and me

Front 474

Eukaryotic rna polymerases:
1. RNA Pol I
2. RNA Pol II
3. RNA Pol III

Which one is susceptible to a-amantin?

Back 474

1. makes rRNA
2. makes mRNA
3. makes rRNA, tRNA

Pol 2 is susceptible to a-amantin. adminitration of this would kill a person in a few hours.

Front 475

All three eukaryotic RNA polymerases interact with their promoters via

Back 475

transcription factors

Front 476

1. Should RNA pol II be able to function at any moment to meet demands of cell?
2. How similar are RNA Pol II enzymes from yeast and humans?
3. What kind of structure of rna polymerase II grips the DNA duplex?

Back 476

1. Yes
2. HOmologous
3. CLAW LIKE STRUCTURE THAT GRASPS

Front 477

RNA polymerase II structure (yeast)
1. how many
2. RPB1 AND RPB2 are homologous to which e coli subunits?
3. Which unit has a dna binding site?
4. Which unit binds NTP?
5. RPB1 has a c terminal domain that has multiple...
6. 5 of 7 residues have what that make it a hydrophilic and phosphorylatable site?

Back 477

1. 12 peptides - RPB1-RPB12
2. B and B'
3. RPB1
4. RPB2
5. TSPTSPS repeats
6. -OH

Front 478

RNA POL II
1. C terminal domain of RPB1 is essential and this domain may project away from globular portion of enzyme. RNA Pol II can only initiate transcription if this CTD is...
2. What is the consensus promotor?

Back 478

1. NOT PHOSPHORYLATED
2. TATA box, TATAAA

Front 479

Pol II promotor (TATA BOX)
1. what are the two separate sequence features?
2. enhancers are aka
3. How does DNA looping help out, again?

Back 479

1. core element near start site where transcription factors bind

regulatory elements, like enhancers and silencers, that are more upstream
2. upstream activator sequences
3. permits multiple proteins to bind to DNA sequences

Front 480

RNA polymerase II

what allows polymerase II to elongate, specifically on the serines and threonines

Back 480

phosphorylation

but phosphorylation will disallow initiation. interesting.

Front 481

TATA box
1. what is it?
2. similar to what prokaryotic region
3. What binds that TATA box?
4. What is start site of TATA box?
5. A severe disease mutation involving a single base pair mutation in the TATA box is...

Back 481

1. a consensus sequence promotor of eukaryotes
2. the pribnow box
3. TATA box binding protein (TBP)
4. -35
5. B-thalessemia. First disease discovered to be a mutation of the regulatory sequence.

Front 482

Glucocorticoids
1. what are they?
2. What do steroid hormones bind to? what does this do? which allows?
3. What on DNA does glucocorticoid bind to? And this is where? Why is it there?

Back 482

1. Steroid hormones
2. Glucocorticoid receptors, causes conformational change, that allows glucocorticoid to bind to DNA
3. Glucocorticoid response element (GRE). Very upstream, to regulate expresssion of genes

Front 483

Transcription factors:
1. TFIID binds to what?
2. what does it help bind?
3. TFIIH is what?

Back 483

1. TATA box
2. TBP to TATA box
3. a helicase

Front 484

Transcription Initiation complex
1. consists of
2. what does the mediator do?

Back 484

1. rna polymerase II
5 General transcription factors
mediator
2. allows POL II to communicate with transcriptional activators bound at sites distant from the promoter

Front 485

In humans, how many base pairs are in diploid genome?

Back 485

6 billion

Front 486

In humans, how many cells are in the human body?

Back 486

10-100 trillion

Front 487

If the DNA in one cell was stretched out, how long would it be?

Back 487

2 meters

Front 488

Nucleosomes and Histones:
1. Nucleosome is what?
2. How are histones modified?
3. An example of why histones can be permanently inactivated

Back 488

1. dna wrapped around 8 histone proteins
2. covalently. Have amino terminal tails containing lysines and arginines that can be modified by phosphorylation, acetylation, methylation, ribosylation, ubiquitanation. Modifications determine how tight or loose dna is packed.
3. genes involved in developmental control in embryo may activate hundreds of genes during development but never need to be expressed again.

Front 489

Two sets of factors in histone remodeling are important:
1. Chromatin remodeling complexes

2. Histone modifying enzymes

Back 489

1. mediates ATP dependent conformational changes in nucleosome structure. HUGE structure. Requires ATP

2. introduce covalent modifications into the N terminal tails of the histone core octamer

Front 490

Covalent modification of histones
1. in transcription initation activation, acetylation of amino acid lysine residues in histone tails is done by what?
2. Phosphorylation of Ser residues and methylation of Lys residues in histone tails contribute to transcription regulation.

Back 490

1. HATs! Histone acetyltransferases. Hats make DNA more accessible.
2. true story

Front 491

chromatin compaction leads to

chromatin relaxation leads to

Back 491

repression

induction

Front 492

Prominent forms of histone covalent modification include:

Back 492

lysine acetylation
lysine methylation
serine phosphorylation
lysine ubquitination
lysine sumoylation

Front 493

Binary switch in histone code:
On position

Off position

Back 493

lysine methylation

phosphorylation

Front 494

How do gene regulatory proteins recognize specific DNA sequences?

Back 494

they fit like a piece of a puzzle onto the dna itself

Front 495

DNA binding proteins have this recurrent feaure:

Back 495

alpha helices fit directly into major groove of B form DNA

Front 496

Helix turn helix domain
1. structure
2. which terminal helix fits into major groove? why is it important?
3. what are examples of proteins with HTH structure?

Back 496

1. two alpha helices divided by b turn
2. C terminal. recognition site
3. lac repressor, trp repressor, C term of Cap

Front 497

Zinc finger motifc
1.

Back 497

wow, nothing intellible really

Front 498

Leucine zipper
1. leucine residue every how many residues?
2. what part of zipper wraps around DNA?

Back 498

1. 7 residues. creates a nice line of leucine
2. basic part wraps around major groove

Front 499

MUSCLES

Back 499

GET TO THE CHOPPA

Front 500

Examples of visceral striated muscle

Back 500

oral cavity, larynx, pharynx, upper esophagus, anal region

extraocular muscles in the eye

Front 501

Developing skeletal muscle myoblasts
1. Myoblasts derive from what?
2. what do they fuse to form?
3. Cells express this transcription factor which activates muscle specific genes and differentiation
3. Also express this factor that inhibits growth and differentiation

Back 501

1. Mesothelium
2. Myotubes
3. MyoD
4. Myostatin

Front 502

H zone

Back 502

part in middle that is all thick filaments

Front 503

What is the major protein at the M line?

Back 503

creatine kinase

Front 504

Thin filaments
1. Actin
2. tropomyosin
3. troponin

Back 504

1. long strand of F actin. Made of two strands of globular monomers (G actin)
2. long thick molecule consisting of two polypeptide chains that run along the actin strands
3. complex of three subunits
TnT - attaches to tropomyosin
TnC - binds calcium
TnI - inhibits actin myosin interaction

Front 505

Thick filaments
1. made of what?

Back 505

Myosin II - large complex consisting of two heavy chains and two pairs of light chains

Front 506

Voluntary vs Involuntary Muscle tissue: Nerve control
1. Voluntary
2. Involuntary

Back 506

1. every muscle cell is contacted by a nerve. told to contract
2. do not want to tell every cell to contract. Cells are connected and signal passes along via gap juntions

Front 507

What is a large single multinucleated cell formed by fusion of several cells

Back 507

syncytium

Front 508

All connective tissue layers (endomysium, perimysium, epimysium) secrete what protein?

Back 508

laminin

Front 509

Epimysium is continuous with what?

Back 509

The tendon that connect muscle to the bone

Front 510

What does the Z line intersect?

Back 510

The I band

Front 511

Sarcomere
1. A band
2. I band
3. M line
4. H zone
5. Z line

Back 511

1. Dark band. Includes thick filament and thick and thin overlap.
2. thin filament only
3. bisects A band.
4. Only thick filament!
5. ends of the sarcomere. bisect the I band.

Front 512

Myosin II
1. Large complex consisting of what chains?
2. The bend and snap region
3. Where actin binds, atp binds, and has intrinsic ATPase activity.

Back 512

1. two intertwined heavy chains, two pairs of light chains
2. Neck hinge region
3. Globular head group.

Front 513

Other proteins in sarcomere
1. This protein anchors actin to the Z line
2. Attaches to the Z line, acts like a spring, helps maintain integrety

Back 513

1. a actinin

2. titin

Front 514

Steps of muscle contraction, starting from depolarization of sarcolemma

Back 514

depolarization of sarcolemma
release of calcium from sarcoplasmic reticulum
calcium binds to TnC of troponin
tropomyson moves out of the way
myosin is already bound to actin? ATP is attached and releases it from rigor conformation
ATP is hydrolyzed to ADP and Pi, but both pieces remain firmly attached to head group
Pi is ejected, and myosin head binds to actin in new place
ADP is ejected, and POWER STROKE
now they are attached again in rigor conformation

Front 515

T-tubules and the SR
1. complex of a t tubule with 2 lateral portions of SR is known as a
2. At this region, depolarization of sarcolemma is transmitted to...

Back 515

1. triad
2. sarcolemma

Front 516

Depolarization of the SR:
1. Calcium passes out of the SR how?
2. How does it get back in?

Back 516

passively

active transport

Front 517

Sarcoplasmic reticulum
1. consists of WHAT surrounding each myofibril
2. Muscle contraction is initated by...

Back 517

1. cisternae

2. release of calcium

Front 518

Transverse tubule system
1. what do t tubules encircle?
2. where does the triad line up at?
3. where does the depolarization jump from t tubule to sarcoplasmic reticulum cisternae?
4. importance of t tubules

Back 518

1. A-I band of each sarcomere in every myofibril
2. at the interaction of thick and thin filaments
3. the triad, hanging out next to the interaction of the thick and thin filaments
4. allow all the cells to contract in a regular, quick fashion

Front 519

what element depolarizes the voltage meters of the Ca channels

Back 519

sodium

Front 520

how does Ca get back into the SR?

Back 520

active ATPase pumps

Front 521

Muscle contraction depends availability of

Muscle relaxation is related to an absence of

Back 521

cytosolic Ca2+

absence of cytosolic Ca2+

Front 522

Innervation of Skeletal muscle
1. Motor neurons innervate skeletal muscle at a site called the
2. Vesicles for contraction contain what neurotransmitter?
3. Space between axon and and muscle is called the what
4. When an action potential invades the junction, acetylcholine is released. It travels across the synaptic cleft and binds to the sarcolemma, causing what?
5. Binding of acetylcholine makes the sarcolemma more permeable to
6. you know the rest

Back 522

1. motor end plate, or neuromuscular junction
2. acetylcholine
3. synaptic cleft
4. depolarization
5. sodium

Front 523

Must every cell be innervated in skeletal muscle?

Back 523

Yessss

Front 524

Encapsulated proprioceptros consist of connectibve tissue capsule surrounding a fluid filled space that contains a few long, thick muscle fibers and some short thinner fibers. what are these collectively called?

Back 524

Intrafusal fibers.

(muscle spindles?)

Front 525

Intrafusal fibers
1. Innervated by what?
2. made up of what?
3. controls the sensation of where your muscles are in relation to space. what is this called?
4. These are encapsulated sensory organs in tendons containing sensory nerve fibers responding to tension. they relay when tension is at maximum

Back 525

1. sensory axons
2. muscle spindles
3. proprioception
4. golgi tendon organs

Front 526

Where are muscle spindles usually found?

Back 526

perimysium

Front 527

Type I muscle fibers
1. slow..
2. rich in what protein?
3. how does it deal with fatigue?
4. Where is main source of energy?
5. what kind of twitch fibers?

Back 527

1. oxidative
2. myoglobin
3. fatigue resistant
4. fatty acids
5. slow twitch

Front 528

Type IIA muscle fibers
1. layperson name
2. fast...
3. intermediate fibers that contain...
4. use ox/phos?
5. how does it deal with fatigue?
6. Has stores of what for fast boost?

Back 528

1. intermediate fibers, medium fibers
2. oxidative glycolytic fibers
3. myoglobin
4. Yes
5. fatigue resistant during peak muscle tension
6. glycogen!

Front 529

Type IIB
1. lay person name
2. how much myoglobin?
3. how does it deal with fatigue?
4. abundance of glycogen stores?
5. derives ATP from form glycolysis to...

Back 529

1. White muscle
2. much less than the rest
3. not fatigue resistant at all.
4. high abundance
5. lactate

Front 530

Most muscles are which type?

Back 530

Mixed!

Front 531

Phosphocreatine-creatine cycle
1. involves what enzyme, and where is it?
2. what does above enzyme do?
3. Is it faster or slower at energy regeneration than ox/phos and substrate level glycolysis?
4. How long does it last?
5. Where can it be done?

Back 531

1. creatine phosphokinase, enriched at the M line
2. slaps a phosphate from phosphocreatine to ADP to form ATP
3. much faster
4. only a couple of seconds
5. on site, right by the sarcomeres

Front 532

Regeneration and Repair
1. Excersize causes what to muscle cells?
2. Can muscle cells divide or repair?
3. What is regeneration and repair done by?

Back 532

1. hypertrophy. get jacked
2. NO
3. satellite cells

Front 533

Diseases of skeletal muscle
1. Mutation in structural proteins. cna't keep myofibrils intact. cytoskeletal elemetns or anchoring proteins
2. Autoimmune disease, makes antibodies against Ach receptor
No initiation of muscle contraction
3. Toxin that interferes Ach release
4. Snake venom, binds to Ach

Back 533

1. Muscular dystrophy
2. Myasthenia Gravis
3. Botulism
4. Neurotoxins

Front 534

Intercalated discs of cardiac cells
1. transverse portion contains what?
2. Lateral portion has

Back 534

1. desmosomes (binds cells together), Zonula adherans (stability)
2. gap junctions (communication between cells)

Front 535

epimysium and perimysium in cardiac muscle cells?

Back 535

NOOOO

Front 536

Cardiac muscle: contractile features:
1. Triad of T tubules and SR like skeletal muscle?
2. SR...

Back 536

1. No, it's a diad
2. less developed

Front 537

Energy in cardiac muscle tissue:
1. how much mitochondria?
2. What is major fuel source?
3. small amount of glycogen is stored for what?

Back 537

1. LOTS
2. fatty acids
3. fight or flight time

Front 538

How is the heart like an endocrine organ?

Back 538

secretes atrial natriuretic factor (ANF)
tells the kidneys to lose sodium and water

lowers blood pressure

comes from the right atrium

Front 539

Purkinje Fibers
1. what are they?
2. stimulates some cardiac muscle cells. how does the signal propagate?
3. what kind of nodes?
4. which nervous system?

Back 539

1. signal transmitting cells
2. GAP JUNCTIONS
3. AV and SA
4. Sympathetic and Parasympathetic

Front 540

Smooth Muscle Cells
1. kind of looks like
2. how many nuclei per cell?
3. Enclosed by a network of what?
4. what is the shape?
5. Can they divide?

Back 540

1. dense irregular connective tissue
2. 1
3. reticular fibers (collagen III) and basal lamina
4. fusiform
5. YES!

Front 541

Contractile features of smooth muscle:
1. any t tubules?
2. what is the name of the primitive T tubules it has?
3. Where is the Ca source?
4. Thin filaments? Thick filaments? Troponin?

Back 541

1. No
2. Caveolae
3. SR and plasma membrane
4. yes, yes (same kind), No

Front 542

Dense bodies of smooth muscle
1. dense bodies are analagous to the
2. contain what protein for thin filament attachment?

Back 542

1. z line
2. a actinin

Front 543

Organization of filaments
1. thick filaments are anchored in between what?

Back 543

dense bodies and thin filaments

Front 544

Model for smooth muscle contraction
1. Dense body has alpha actinin and intermediate filaments bound to it, in particular...
2. distinct M line?

Back 544

1. desmin
2. No. actin and myosin overlap almost the entire length of the myosin

Front 545

Smooth muscle contraction:
1. influx of calcium from plasma membrane and SR
2. Ca++ complexes with what?
3. Ca++/calmodulin complex then binds to what?
4. This allows what?
5. Why can contraction and relaxation be regulated by hormonal and nervous stimulation?
6. after myosin is phosphorylated, what happens to its form?
7. what's a random regulatory factor involved in this, in some way i'm not sure about?

Back 545

1. yeap
2. calmodulin
3. MLCK (myosin light chain kinase)
4. Myosin light chain to be phosphorylated
5. because myosin activity is dependent on phosphoryalation
6. goes from twisted to relaxed form.
7. IP3

Front 546

Innervation of smooth muscle
1. innervated by which nervous system?
2. receives both (what kind of nerve endings)

Back 546

1. autonomic nervous system
2. adrenergic and cholinergic endings

Front 547

Regeneration of muscle tissue:
Skeletal

Back 547

no mitosis!
satellite cells proliferate and turn into myoblasts that turn into myocytes that fuse with surrounding tissue. they do this upon injury.

Front 548

Regeneration of muscle tissue:
Cardiac Muscle

Back 548

no regenerative capacity beyond childhood

damage replaced by scar tissue

Front 549

Smooth muscle

Back 549

can regenerate! mitosis! hyperplasia AND hypertrophy.

Front 550

NERVOUS TISSUE 1

Back 550

I don't know what it's so anxious.

Front 551

COMPONENTS OF (and where cell bodies are)
1. CNS
2. PNS

Back 551

1. brain, spinal cord. Cell bodies are in brain or spinal cord.
2. nerves that extend from spinal canal and associated ganglia. neuron cell bodies are housed in the ganglia

Front 552

Parasympathetic and sympathetic nervous system: are they exclusive?

Back 552

No! you can have a mixture of the two going all at once. blood vessels stay at 50% dilation, don't want it completely closed or completely open

Front 553

What is the third division of autonomic nervous system?

Back 553

Enteric! regulates the GI system

Front 554

Do axons branch?

How many axons leave the cell body?

Back 554

yes, they will have collaterals. any kind of branching will occur distal to the soma.

ONE

Front 555

Bipolar neurons
1. arborization
2. structure
3. what kind of cells have this structure?

Back 555

1. the arborization for this type is branching at both ends. all branches of dendrites receive signal, all branches of axon transmit signal
2. Single dendrite and single axon
3. mainly in specialized sensory cells (nasal cavity, retina, ear canals)

Front 556

Regions of a neuron
1. Receptor
2. Conductive
3. Effector
4. Telodendron

Back 556

1. concentrated around the cell body
2. axon (nerve fiber)
3. what neuron connects to.
4. axon terminals branching out

Front 557

Organization
1. Nissl bodies
2. Axon hillock: why is it easy to detect?
3. this component touches down on skeletal muscle
4. What structure is very easily seen in the cell body?
5. Specialized intermediate filamements are called what?

Back 557

1. very concentrated areas of polyribosomes and RER
2. clearish
3. motor end plate
4. Nucleolus
5. Neurofilaments

Front 558

Somas:
1. Why are there so many lysosomes?
2. What pigment builds up over time?

Back 558

1. because there is a lot of protein trafficking and things need to be broken down
2. Lipofuscin

Front 559

How are all borders of soma protected?

Back 559

Synapse will cover some of the border. Glial cells, or neuroglia, which are supporting cells, will seal the spaces NOT covered by synapses.

Keeps a nice, tight border

Front 560

Is there any protein synthesis in the axon or axon terminal?

Back 560

No. Everything the cell needs will be made in the soma and transported down the axon and dendrites.

Front 561

What kind of transport involves movement of materials from cell body out towards membrane?

Back 561

Anterograde!

Uses kinesin motor protein.

Can be fast or slow depending on what is being moved:
Fast: organelles, amino acids, nucleotides, neurotransmitters

Slow: tubulin, other MAPs, actin

Front 562

What kind of transport involves movement of materials from membrane to center of cell?

Back 562

Retrograde transport

Motor protein dynein

Front 563

What do kinesin and dynein use 'walk along' to carry things around the cell

Back 563

Microtubules

cancer drugs target this

Front 564

Synaptic transmission
1. Axon propagation signal?
2. what is the uniform signal for secretion of neurotransmitters?
3. What is an accessory molecule that anchors vesicles to correct membrane for proper fusion?

Back 564

1. Na/K
2. Ca++
3. Snare

Front 565

Types of synapses
1. Axosomatic
2. Axodendritic
3. Axoaxonic

Back 565

1. axon to soma
2. axon to dendrite
3. axon to axon

Front 566

Nerve impulse conduction speed depends on two things:

Back 566

Axon diameter

myelination

Front 567

Different sizes of myelinated fibers and their function:
1. Large
2. Medium
3. Small

Back 567

1. Motor, proprioception
2. fine touch
3. pain, crude touch

Front 568

What kind of filaments are in the axon?

Back 568

intermediate filaments (neurofilaments)

Front 569

Unmyelinated axons: they have absolutely zero myelin?

Back 569

NO. they have some myelin, but shwann cell is not extensively wrapped around the axon

Front 570

what is another name for the schwann cell?

Back 570

neurolemmocyte

Front 571

What exactly IS the myelin sheath?

Back 571

overlapping inner layers of neurolemmocyte plasma membranes

the cytoplasm and nucleus are pushed out to the periphery

Front 572

What protects the entire axon schwann cell ssytem?

Back 572

the basal lamina secreted by the shwann cell

Front 573

The regulation of myelination is dependent on
1. what protein
2. which is in which plasma membrane
3. and directs what property of the myelin sheath
4. and is downregulated when it wants the schwann cell to...

Back 573

1. neuregulin
2. the axon's
3. the thickness
4. stop wrapping

Front 574

What is the resting membrane potential?

When sodium rushes in, at what voltage is the peak of depolarization?

Sodium channels are deactivated at max depolarization, until what?

why doesn't the signal travel backwards?

Back 574

-70

50

resting membrane potential is reestablished

the refractory period caused by sodium channels not opening until membrane potential is reestablished

Front 575

what is a protein that helps keep myelin sheaths anchored to the axon?

Back 575

Caspr protein

Front 576

1. Endoneurium
2. Perineurium
3. epineurium

Back 576

1. loose connective tissue that surrounds each muscle fiber
2. intermediate density connective tissue that surrounds each fascicle
3. dense irregular connective tissue surrounding bundle of fascicles

Front 577

Blood vessels in the epineurium are referred to as

Back 577

vasa nervosum

Front 578

Dorsal root ganglion
1. house what kind of cells?
2. cell bodies are concenrated where?
3. axons are concentrated where?

Back 578

1. pseudounipolar and bipolar neurons of the afferent nervous system
2. at the periphery
3. in the middle, makes it look fibrous

Front 579

position of nucleus of neurons in dorsal root ganglia

Back 579

CENTRAL

Front 580

Autonomic ganglia
1. dispersion of somas in ganglion?
2. position of nucleus?

Back 580

1. widely dispersed. need the room, they are multipolar
2. offset

Front 581

other cells
1. what are the supporting cells of ganglia?
2. both dorsal root ganglia and autonomic ganglia have what that secrete endoneurium?

Back 581

1. satellite cells
2. fibroblasts

Front 582

The four neuroglia: OMEA
1. Oligodendrocytes
2. Microglia
3. Ependymal cells
4. Astrocytes

Back 582

1. myelinates multiple axons
2. resident macrophage of the CNS
3. ciliated columnar epithelial cells that circulate CSF
4. blood brain barrier, most abundant, white matter fibrous astrocytes, gray matter protoplasmic

Front 583

In the spinal cord, synapse only occur in the

Back 583

gray matter

at nerve nuclei

Front 584

if you see nuclei in the white matter, you are looking at

Back 584

fibroblasts or oligodendrocytes

Front 585

Injury:
the further away the damage of the axon is from the soma, the...

Back 585

better chance for recovery

Front 586

Repair process:

Back 586

infiltration of macrophages
schwann cell activation to repair axon

Front 587

CHROMOSOME STRUCTURE

Back 587

throwback status

Front 588

which proteins regulate timing of cell cycle?

Back 588

kinases and cyclins

Front 589

how long does S phase last

Back 589

several hours

Front 590

S phase:
which genes are replicated first?

Back 590

the ones that actively transcribe genes

so in a hepatocyte, the liver enzyme genes would be duplicated first

Front 591

p53 (the cancer gene) is functionally used for what?

Back 591

checkpoint protein of cell cycle

Front 592

spindle fibers
1. are made of what?
2. are attached to centromeres by what?

Back 592

1. microtubules
2. kinetochores

Front 593

the nutrition status of somebodys grandma while pregnant is important BECAUSE

Back 593

oocytes develop during fetal life.

so if grandma is pregnant, the fetus has developing oocytes, which will one day be the grandchild

Front 594

Crossing over.
1. how many crossing over events per arm?
2. gene density is packed tightly toward telomrere or centromere?
3. crossing over happens more frequently toward telomere or centromere?

Back 594

1. 1
2. telomere
3. telomere

Front 595

What is the most common mutational mechanism in man?

Back 595

Meiotic nondisjunction

Front 596

the one factor known to be associated with nondisjunction is:

Back 596

advanced maternal age

Front 597

advanced paternal age is thought to cause

Back 597

new dominant mutation

Front 598

Chromosomal abnormalities (4 kinds)
1. Constitutional
2. Acquired
3. Numerical
4. Structural

Back 598

yeah

Front 599

Numerical abnormalities:
1. example of aneuploidy
2. example of mixoploidy

Back 599

1. trisomy 21
2. trisomy 22, but only some of the cells have it. mosaic form of mutation. cat eye syndrome

Front 600

Trisomy 18

Back 600

Edwards syndrome
only seen in mosaic
weak cry, distinct hand appearance
look like dolls

IUGR
severe mental retardation

Front 601

Trisomy 22

Back 601

cat eye syndrome
only seen in mosaic

Front 602

what is the most common sex chromosome abnormality?

Back 602

turner syndrome

XO
hyperconvex nails
wrinkles of skin around eyes

Front 603

Wolf hirsch syndrome

Back 603

deletion of tip of chromosome 4

greek helmet facies

Front 604

will a cgh detect a balanced rearrangement?

Back 604

no

Front 605

balanced translocations aren't really big problems for the people but it is for their offspring. higher chance for bad stuff for female than male. why?

Back 605

cause abnormal sperm are less competitve in fertilizing the egg