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219 Cards in this Set
- Front
- Back
Genetic Material must:
|
Be able to replicate itself with high accuracy.
Be able to control living processes |
|
Meitscher
|
Isolated a phosphate containing visible acid from the nucleus. He called it nuclein.
|
|
Griffith
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(Bacteria and mouse, smooth/rough strain.)
The DNA survived heat treating allowing it to enter the rough bacteria, encode for the polysaccharide coating, and thrive in the mouse, killing it. |
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Hershey-Chase
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(used viruses to determine DNA components)
(Sulfur/Phosphorous) Discovered that Transforming principal (genetic material) was the DNA |
|
Chargaff
|
A-T has same quantities so they bond
C-G " |
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Franklin and Wilkins
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Thru X-ray diffraction showed that DNA is linear and in a helical formation
(Knew it was helical b/c x ray diffraction pattern was an X |
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Which are purines which are pyrimidines
Which has 2 rings? |
Purines: A and G double ring
Pyrimidines: C T U |
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Major grooves provide a location for:
|
protein to bind particular sequence of nitrogenous bases and effect gene expression
|
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Replication-what does each daughter strand produce
Semi-conservative: Conservative: Dispersive: |
Semi: parent and new strand
Conser: brand new daughter no parental material DIspersive: Mixed through the strand |
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Meselsohn and Stahl
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(found DNA uses semiconservative)
15N and 14N, Heavy and Light DNA |
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What does topoimerase do to relieve coiling
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cuts sugar backbone of DNA to allow uncoiling then rejoins that region of DNA
|
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Are RNA primers needed on the leading strand
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Yes
|
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DNA polymerase lll does what is DNA replication
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makes DNA from RNA primers and adds nucleotides to 3' end
|
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DNA polymerase l does what in replication
|
replaces RNA with DNA on lagging strand
|
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Telomeres provide chromosome shortening by
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attaching repeated DNA sequences to ends of chromosomes to eliminate the 3' overhang
- give a site for RNA primer required to close up the zipper |
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Senescent cells:
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have lost the capacity to divide
|
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Why do cancerous cells have lots of telomerase?
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Allow a prolonged life and increased replication capabilities
|
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Garrod
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came up with idea that enzyme damage/ failure was reason for failure of metabolic processes
-alkaptonuria example (buildup of an acid not able to be broken down cause of a defective enzyme caused black piss) -lead to beadle and tatum |
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Beadle and Tatum
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one gene - one enzyme
(bread mold - arginine) |
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Where to transcription and translation occur in prokaryotes
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cytoplasm, coward
|
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What explains the fast growth of prokaryotic cells
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transcription and translation occurs simultaneously and fast in cytoplasm
|
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A-U is ___ bonds
G-C is ___ bonds What kind of bonds |
2 H bonds
3 H bonds |
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Which enzyme reads the DNA strand in transcription and why
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RNA polymerase, we want RNA not DNA
|
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How many amino acids
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20
|
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4 nucleotides , all need to be able to account for 20 A.A.'s. How many bases per AA and why? ( Formula?)
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4 (nucleotides) ^ 3(bases) = 64
4^2=16, wouldn't cover for 20 |
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Sigma factor:
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protein that recognizes promoter region then binds to RNA polymerase so it knows when to start transcribing
|
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Promoter region:
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where transcription starts
|
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After sigma factor binds:
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DNA is unwound to form open complex, then Sigma factor released
|
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Does transcription need an RNA primer
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no, coward
|
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In transcription what is added to growing 3' end
|
Nucleotide triphosphates
|
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Gilbert
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By splicing out different combos of exons, you can code for different protein domains which makes different proteins
Called exon shuffling |
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What is added to 5' end of growing mRNA and how
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7-methylguanosine - recognized by cap binding proteins that enable it to be translated
|
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What is added to 3' end of mRNA? when this happens what happens to RNA transcript? How is it added?
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Poly-A-tail (100-200) adenines
not coded, added enzymatically RNA transcript moved out of nucleus into cytoplasm |
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Poly A tail causes ______ to be more stable in ______ and more unstable in ______
|
mRNA, eukaryotes, bacteria
|
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snRNPs are:
what do they stand for? |
group of proteins, all together a spliceosome
small nuclear RNA and proteins |
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Steps a splicesome takes to complete its goal
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1. Binds to specific sites on intron
2. Binds to each other, forms loop (proteins in snRNPs) 3. Cuts out intron 4. Connects the 2 exons |
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Translation occurs in
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ribosomes
|
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tRNAs:
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brings individual AA's
|
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What are subunits of ribosomes called?
What do these subunits create? |
Large and small, create a groove
|
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What are the 3 sites at the ribosomal groove?
What happens at each site |
A - Accepts aminoacyl tRNA which isn't attached to the rest of growing protein yet
P - receives the polypeptide bearing tRNA, protein is connected to rest of polypeptide chain E- tRNA exites |
|
What are 4 steps of translation?
Briefly what happens at each? |
Activation- Formation of tRNA's
Initiation - mRNA binds to large/small subunits of Rib Elongation - Continued addition of AA's to chain Termination - releases of protein |
|
What is a peptidyl transfer reaction?
|
Aminoacyl tRNA moves from A to P in ribosome, is added to polypeptide chain
tRNA is now called peptidyl RNA carried out by peptidyl transferase |
|
So when was the first slime for some of these guys?
|
8==========3 - - - - - ;)
|
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If a ribosome comes to a stop codon and there is no tRNA what happens?
|
release factor binds to A site instead
|
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What are constitutive genes?
|
- genes that code for proteins that are always required and readily available in cell at all times
- always transcribed |
|
Jacob and Monod
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discovered regulation of genes using lac operon in e.coli
|
|
Operons are:
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collection of genes on same chromosome controlled by one set of regulatory sequences
|
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6 lac genes are:
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Lacl
LacP LacO LacZ LacY LacA |
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Lacl makes
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lac repressor
|
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LacP
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promoter region
|
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LacO
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operator region
|
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LacZ makes
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beta-galactosidase
|
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Lac Y makes
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galactose permease
|
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Lac A makes
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galactose transacetylase
|
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When is allolactose made?
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Lactose is present
|
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LacZ, LacY and LacA are the _____ genes
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structural
|
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Beta -galoctosidase converts and produces:
|
lactose into galactose and glucose
- side reaction produces allolactose |
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Galactosidase transacetylase modifies:
|
lactose and analogues
-may prevent toxic buildup |
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Lactose permease allows:
|
lactose entry into cell (think PERMEASE)
|
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lac repressor has ___ subunits that each have a _____ site
|
4, allosteric
|
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When allolactose is bound to all 4 subunits the repressor can:
|
bind to the operator
|
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Is Trp operon negative or positive control?
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Negative
|
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What is positive regulation?
|
activator promotes gene expression
|
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Structural genes code for:
|
enzymes and related proteins
|
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Basal transcription:
|
Core promoter by itself
|
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2 regulatory elements:
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Enhancers and Silencers
|
|
Pre-initiation complex is composed of:
|
RNA polymerase
5 GTF's |
|
Mediators partially wrap around the _________ ____________ apparatus
|
basal transcription
|
|
Mediators:
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control the rate which RNA polymerase can begin transcription
|
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How does chromatin packing affect gene expression
|
when DNA is tightly packed in the closed conformation (as chromatin) its nearly impossible for transcription to occur
|
|
Histones are:
|
proteins that DNA is wrapped around and bound to to help compact it
|
|
Zinc fingers are:
|
Transcription factor domains that recognize DNA sequences in the major groove
|
|
RISC is:
|
RNA induced silencing complex
-Binds in a way so that nucleotide bases are exposed to solution |
|
Fire and Mello
|
RNA interference
|
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DNA methylation:
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addition of methyl group to C to prevent transcription
|
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Proteolytic processing
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chopping up proteins to make them into mature forms
Eg. proinsulin is produced from gene and portion is cleaved off to produce insulin |
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Alternative splicing
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regulation process resulting in an increase of proteome size without increasing total number of genes
|
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Mutagens
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chemical treatments that cause mutation
|
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Mutagens that cause cancer
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carcinogens
|
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3 types of mutations
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chromosomal, point, frameshift
|
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Types of chromosomal mutations
|
-deletion or addition of DNA segments
-breakage |
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Chromosomal mutations are very serious and fatal
True or False |
True
|
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What is the syndrome called when the addition of CGG repeats cause methylation which organized X chromosome into a closed conformation
|
Fragile X syndrome
|
|
What is Kleinfelter syndrome
|
2 X's , usually looks like male, sterile and develop breasts
|
|
Types of point mutations
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Silent, Missense, Nonsense,
|
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Sickle cell anemia
|
cause RBC to concave, cant carry much O2, hard to fit thru blood vessels
-also gives heterozugous advantage against malaria one type of each gene gives advantage |
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Missenese mutations:
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Cause the AA to change
|
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Frameshift
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removal or addition of 1-2 bases
|
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Hemophilia is an __________ disease
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X-linked
|
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Restriction enzymes
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cut DNA at specific sites
|
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SNPs
Single nucleotide polymorphisms |
one nucleotide that is diff in a certain proportion of a population
|
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What can lead to intron mutations
|
SNPs, biallelic, DNA repeat mutations
|
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Hemophilia type A is missing a factor ___
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8
|
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Hemophilia B missing factor ____
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9
|
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Hemoarthrosis is
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bleeding into a joint
|
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Hemophilia victims missing:
|
critical factors of coagulation cascade
- without clotting factors |
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the lower your factor 8 and 9 gene the _______ bleeding
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more
|
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Hemophilia is : diagenic or monogenic
|
monogenic what the **** is diagenic
|
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For B hemophilia patients what kind of therapy has been developed
|
gene therapy - virus vector mediated gene transfer
|
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Mutations are planned or....
|
yes they are planned! fooled ya!
|
|
Ester and Lederberg
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Mutations are random events
|
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A physical agent of mutation and a chemical agent
|
physical - UV
chemical - chemicals found in darts/darryls not bernies |
|
X and Gamma rays can cause :
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base deletions, breaks in one or both strands
|
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UV rays can cause formation of:
|
thymine dimer
|
|
Ames
|
Developed AMES TEST to determine if a chemical is a mutagen
|
|
Direct repair
|
enzyme physically removes alkyl group
|
|
NER
|
remove damaged strand, use template to form removed complimentary strand
|
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Methyl-directed mismatch repair
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corrects non-methylated daughter strand
|
|
Xeroderma pigmentosum
|
fuckedz up kid
- photosensitivity because of inability to repair UV induced lesions |
|
Stages of cancer
|
1 malignant - loss of normal growth regulation
2 invasive - heathy tissue invasion 3 metastatic - spread to other parts of body |
|
Can viruses cause cancer
|
ya
|
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Oncogene
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overactive gene from mutation, uncontrolled cell growth occurs
|
|
Tumour supressor genes
|
usually encode proteins that prevent cancer
p53 is G1 checkpoint |
|
When p53 is damaged what happens in cell cycle?
|
cell is allowed to progress to S and replicate
|
|
p53 defects are responsible for a little or lots of cancers
|
lots 50%
|
|
Chimeric genes:
|
mixed from translocations, those ones on karyotypes that are lots of colours and segments misplaced
|
|
Nucleosome
|
8 histones with attached DNA
|
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Nucleosome form what pattern? what kind of domains is this pattern arranged in? organized into?
|
zig-zag pattern arranged in radial loop domains organized into heterochromatin
|
|
what gives chromosomes their characteristic structure
|
folding of heterochromatin
|
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How do prokaryotes reproduce
|
asexually, fission
|
|
Eukaryotes use ____to produce identical daughter cells
|
mitosis - essentially asexual reproduction
|
|
Diploid chromosome # in humans
|
46
|
|
Sex cells have ___ set(s) of chromosomes
|
1
|
|
Karyotype
|
chart with the chromosomes looking like X's
|
|
G1
|
prior to cell division
chromosomes exist as single chromatid |
|
S
|
chromosome replication
|
|
G2
|
Cell prepares to divide
Replicated chromosomes condense in preparation Chromosomes exist as 2 chromatid joined together |
|
M
|
Mitosis and Cytokinesis
Chromosomes separate 2 cells are formed after mitosis each daughter cell has 1 chromatid each |
|
End product of eukaryotic cell cycle
|
2 daughter cells with same genetic complement as each other and mother cell
|
|
Interphase
|
Replication has already occurred
Centrosomes form from centriole pairs G1, S , G2 phases |
|
Prophase
|
Sister chromatids condense
- nuclear membrane breaks apart into vesicles - spindle fibres form centromeres, moving towards pores |
|
Metaphase
|
Chromatids align on metaphase plate
|
|
Mitotic Spindle
|
composed of astral, polar, kinetochore microtubules and centrosomes (connect to chromosomes)
|
|
Anaphase
|
Sister chromatids split and move to each pole by shortening of kinetochore microtubles
Lengthening of polar microtubules pushes 2 poles of cell apart |
|
Telophase & Cytokinesis
|
Chromosomes decondense, nuclear membrane reforms from vesicles
Cell cleavage occurs, pinching 2 cells apart Actual separation of cytoplasm into 2 daughter cells is called cytokinesis |
|
In animal cells what filaments is cytokinesis dependant on and what do they do
|
actin and myosin fibres pull to nip cells apart
|
|
In plants where to vesicles for mitosis form from?
|
golgi baby
|
|
What enzymes regulate cell division and what do they do?
|
cyclin dependant protein kinases helps to initiate mitosis by phosphorylating diff proteins
|
|
Anaphase promoting complex (APC) does what?
|
cleaves bonds which hold sister chromatids together
APC is held off until all kinetochores attach |
|
progeny are made when
|
2 parental DNA come together
|
|
Haploid
|
1 set of chromosomes (1n)
|
|
Gametes combine to form
|
zygote (2n)
|
|
Synapsis
|
When homologs come together
|
|
Synaptonemal complex mitosis
|
breakage and crossover of genetic material between chromatids of the 2 homologs
|
|
Von Willebrand Factor
|
plugs vascular injury, Factor 8 is bound to VWF, helps with fibrin
|
|
Von Willebrands disease is autosomal _________
|
recessive
|
|
variable expressivity
|
mother has ****** load of period and daughter has moderately load of period
|
|
VWD is more impactful in men or women
|
*******
|
|
Hemophilia is severe whereas VWD has variable severity true or false
|
true
|
|
Prophase I
|
Homologous chromosomes synapse to form bivalents
crossing over occurs |
|
synaptonemal complex meiosis
|
-2 pairs of homologous chromosomes held together by various proteins
-DNA is precisely cut and recombined while part of SC -Holds chromatids of homologs close till crossover complete |
|
Chiasmata
|
X-shaped formed from crossing over
|
|
Prometaphase l
|
Bivalents attach to kinetochore microtubules
|
|
Metaphase l
|
Bivalents align along metaphase plate
|
|
Anaphase l
|
Homologous chromosomes separate and are pulled towards poles
|
|
Telophase l
|
Nuclear membranes reform and chromosomes condense
cytokinesis occurs and results in 2 cells |
|
Meiosis ll
|
same as mitosis but with chromosomes created from Meiosis l
-results in haploid gametes |
|
mitosis results in
|
formation of 2 diploid cells
|
|
sperm meiosis creates __ sperm
|
4
|
|
ova meiosis results in __ cell(s)
|
1 large haploid
lots of nutrients in it |
|
fusion of 1n gametes (fertilization) always results in a ___ _________
|
2n zygote that develops into an embryo
|
|
Segregation
|
different genes go into the gametes
|
|
Independant assortment occurs during
|
meiosis
|
|
Why pea for mendel (3 reasons)
|
lots of progeny
short life cycle distinct phenotypic characterisitics |
|
True breeding stock
|
inbreeded for several generations to get pure (insest)
|
|
Segregation occurs in
|
meiosis l and ll
|
|
formula for genetic map distance
|
total recombinance
--------------------------- (100%) total |
|
incomplete dominance
|
3rd, intermediate phenotype
|
|
Human phenylketonuria (PKU)
|
heterozygotes appear phenotypically normal but have double normal levels of phenylalanine because they have 1/2 the amount of phenylalanine hydroxylase
|
|
hydrolysis: breaking apart or forming?
|
breaking apart
|
|
condensation: breaking apart or forming
|
forming
|
|
MULTIPLY BY 1000 for CHEM
|
YES
|
|
example of multiple alleles (3 or more)
|
blood types
AB is codominant, expressed equally |
|
sex-influenced inheritence ad example
|
dominant in one sex not other
pattern baldness, lefrbveveb woman must be homozygous for baldness alle NOT X LINKED |
|
Norm of reaction and ex
|
effects of environmental variation on a phenotype
Plants grow better at specific temp, diff heights at diff temp |
|
A single trait is controlled by __ or more genes each of which has ___ or more alleles
|
2, 2
|
|
Epistasis
|
alleles of one gene mask expression of alleles of other
|
|
Polygenic inheritance and ex.
|
different genotypes produce wide range of phenotypes
ex. height |
|
Can organelles impart different phenotypes?
|
yes mito and chloro they have their own geno
|
|
Epigenetic Inheritance
|
Modification of gene or chromosome during egg/sperm formation that alters gene expression that will never change in an individuals life time
|
|
does epigenetic inheritance last past the 1st generation
|
naw
|
|
2 examples of epigenetic inheritance
|
x-inactivation and genomic imprinting
|
|
Example of something that used X inactivation
|
Calico CATTTTTTTTTTTT
|
|
Barr bodies
|
closed conformation of X chromosome
(not currently active) |
|
In Calico cat why does it have patches of diff colours
|
2 X's, each provide either orange or black, expressed alternatively in cells, other is a barr body in the cell expressing the other colour
|
|
If the calico cat was missing the X inactivation what would happen?
|
both X chromosomes are active which is lethal
|
|
Genomic Imprinting
|
epigenetic phenomenon by which certain genes can be expressed in a parent-of-origin-specific manner
|
|
In genomic imprinting do kids express maternal or paternal allele?
|
Either but not both
|
|
in vivo is
|
inside cell
|
|
in vitro is
|
out of cell
|
|
biotechnology
|
addition of new genes to create transgenic or genetically modified organisms
|
|
'Molecular scissors' that cut out viruses are known as
|
Restriction enzymes
|
|
Where do restriction enzymes cut
|
Palindromes
RACECAR |
|
When restriction enzymes cut they leave
|
sticky ends
|
|
Vector
|
Not only a delicious cereal but also a piece of DNA used to carry other DNA into a cell
|
|
Plasmids
|
circular self replicating DNA in bacteria
|
|
Recombinant DNA contains DNA from:
|
2 or more sources
could be same organism, 2 diff genes |
|
Why create gene clones
|
- to study or use
-obtain lots of gene product (mRNA or protein) |
|
Why can you use restriction enzymes on plasmids?
|
They are double stranded
- plasmids are small rings of double stranded DNA |
|
How can you use viruses to help insert genes
|
take **** out of virus and put in your gene
|
|
Steps of gene cloning
|
1. isolate vector and gene of interest
2. insert gene of interest into vector (recombinant) 3. Introduce recom vector into host cell 4. Host cell will copy and divide to produce many cells |
|
transfection
|
viral vectors involve a transfection of DNA via a macrophage into the bacteria
|
|
DNA libraries
|
collections of small DNA fragments (recom vectors) obtained by cleavage via restriction enzymes
|
|
cDNA
|
obtained from mRNA using reverse transcriptase forming complimentary DNA
|
|
why is cDNA simpler to use?
|
lacks introns
|
|
Southern blotting
|
-gel electrophoresis seperates macromolecules (size/charge)
-locations where probe binds appear dark on x-ray film |
|
is DNA negative or positive
where will it move in gel electrophoresis |
negative so to the + electrode
|
|
how does gel electrophoresis separate macromolecules
|
size and charge
|
|
High stringency southern blotting
|
detects close match between probe and chromosomal DNA
|
|
Low stringency southern blotting
|
detects homologous genes
|
|
what 2 primers used in PCR
|
dNTPs and Taq polymerase
|
|
Steps of PCR
|
heat to denature and seperate strands
Lower temp for primer to bind to each strand Incubate to allow synthesis of complementary strand |
|
why use taq polymerase
|
very heat resistent! XDXDXDXD
|
|
why do you need primers for PCR
|
polymerases need to work on double strands
|
|
2D gel electrophoresis can separate proteins first by ______ then by ______
|
pH, size
|
|
why genetic engineering
|
alter DNA of organisms to improve function of a system
|
|
molecular pharming and ex
|
introduce proteins to improve systme like milk production in cattle
|
|
Transgenic plants
|
genes put into their somatic tissue and with hormone therapy, alter host chromosomes
|
|
9:7 ratio with 2 genes
|
epistasis
|