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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
(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.
Hershey-Chase
(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 "
Franklin and Wilkins
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
Which are purines which are pyrimidines
Which has 2 rings?
Purines: A and G double ring
Pyrimidines: C T U
Major grooves provide a location for:
protein to bind particular sequence of nitrogenous bases and effect gene expression
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
Meselsohn and Stahl
(found DNA uses semiconservative)
15N and 14N, Heavy and Light DNA
What does topoimerase do to relieve coiling
cuts sugar backbone of DNA to allow uncoiling then rejoins that region of DNA
Are RNA primers needed on the leading strand
Yes
DNA polymerase lll does what is DNA replication
makes DNA from RNA primers and adds nucleotides to 3' end
DNA polymerase l does what in replication
replaces RNA with DNA on lagging strand
Telomeres provide chromosome shortening by
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
Senescent cells:
have lost the capacity to divide
Why do cancerous cells have lots of telomerase?
Allow a prolonged life and increased replication capabilities
Garrod
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
Beadle and Tatum
one gene - one enzyme
(bread mold - arginine)
Where to transcription and translation occur in prokaryotes
cytoplasm, coward
What explains the fast growth of prokaryotic cells
transcription and translation occurs simultaneously and fast in cytoplasm
A-U is ___ bonds
G-C is ___ bonds
What kind of bonds
2 H bonds
3 H bonds
Which enzyme reads the DNA strand in transcription and why
RNA polymerase, we want RNA not DNA
How many amino acids
20
4 nucleotides , all need to be able to account for 20 A.A.'s. How many bases per AA and why? ( Formula?)
4 (nucleotides) ^ 3(bases) = 64
4^2=16, wouldn't cover for 20
Sigma factor:
protein that recognizes promoter region then binds to RNA polymerase so it knows when to start transcribing
Promoter region:
where transcription starts
After sigma factor binds:
DNA is unwound to form open complex, then Sigma factor released
Does transcription need an RNA primer
no, coward
In transcription what is added to growing 3' end
Nucleotide triphosphates
Gilbert
By splicing out different combos of exons, you can code for different protein domains which makes different proteins
Called exon shuffling
What is added to 5' end of growing mRNA and how
7-methylguanosine - recognized by cap binding proteins that enable it to be translated
What is added to 3' end of mRNA? when this happens what happens to RNA transcript? How is it added?
Poly-A-tail (100-200) adenines
not coded, added enzymatically
RNA transcript moved out of nucleus into cytoplasm
Poly A tail causes ______ to be more stable in ______ and more unstable in ______
mRNA, eukaryotes, bacteria
snRNPs are:
what do they stand for?
group of proteins, all together a spliceosome
small nuclear RNA and proteins
Steps a splicesome takes to complete its goal
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
Translation occurs in
ribosomes
tRNAs:
brings individual AA's
What are subunits of ribosomes called?
What do these subunits create?
Large and small, create a groove
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 - - - - - ;)
If a ribosome comes to a stop codon and there is no tRNA what happens?
release factor binds to A site instead
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
discovered regulation of genes using lac operon in e.coli
Operons are:
collection of genes on same chromosome controlled by one set of regulatory sequences
6 lac genes are:
Lacl
LacP
LacO
LacZ
LacY
LacA
Lacl makes
lac repressor
LacP
promoter region
LacO
operator region
LacZ makes
beta-galactosidase
Lac Y makes
galactose permease
Lac A makes
galactose transacetylase
When is allolactose made?
Lactose is present
LacZ, LacY and LacA are the _____ genes
structural
Beta -galoctosidase converts and produces:
lactose into galactose and glucose
- side reaction produces allolactose
Galactosidase transacetylase modifies:
lactose and analogues
-may prevent toxic buildup
Lactose permease allows:
lactose entry into cell (think PERMEASE)
lac repressor has ___ subunits that each have a _____ site
4, allosteric
When allolactose is bound to all 4 subunits the repressor can:
bind to the operator
Is Trp operon negative or positive control?
Negative
What is positive regulation?
activator promotes gene expression
Structural genes code for:
enzymes and related proteins
Basal transcription:
Core promoter by itself
2 regulatory elements:
Enhancers and Silencers
Pre-initiation complex is composed of:
RNA polymerase
5 GTF's
Mediators partially wrap around the _________ ____________ apparatus
basal transcription
Mediators:
control the rate which RNA polymerase can begin transcription
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
DNA methylation:
addition of methyl group to C to prevent transcription
Proteolytic processing
chopping up proteins to make them into mature forms
Eg. proinsulin is produced from gene and portion is cleaved off to produce insulin
Alternative splicing
regulation process resulting in an increase of proteome size without increasing total number of genes
Mutagens
chemical treatments that cause mutation
Mutagens that cause cancer
carcinogens
3 types of mutations
chromosomal, point, frameshift
Types of chromosomal mutations
-deletion or addition of DNA segments
-breakage
Chromosomal mutations are very serious and fatal
True or False
True
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
Silent, Missense, Nonsense,
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
Missenese mutations:
Cause the AA to change
Frameshift
removal or addition of 1-2 bases
Hemophilia is an __________ disease
X-linked
Restriction enzymes
cut DNA at specific sites
SNPs
Single nucleotide polymorphisms
one nucleotide that is diff in a certain proportion of a population
What can lead to intron mutations
SNPs, biallelic, DNA repeat mutations
Hemophilia type A is missing a factor ___
8
Hemophilia B missing factor ____
9
Hemoarthrosis is
bleeding into a joint
Hemophilia victims missing:
critical factors of coagulation cascade
- without clotting factors
the lower your factor 8 and 9 gene the _______ bleeding
more
Hemophilia is : diagenic or monogenic
monogenic what the **** is diagenic
For B hemophilia patients what kind of therapy has been developed
gene therapy - virus vector mediated gene transfer
Mutations are planned or....
yes they are planned! fooled ya!
Ester and Lederberg
Mutations are random events
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 :
base deletions, breaks in one or both strands
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
Methyl-directed mismatch repair
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
Oncogene
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
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
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