Final Review Flashcards

1
Q

What determines if you are male or female?

A

Presence of SRY gene

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2
Q

If male doesn’t have sry gene then they develop as

A

Female

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3
Q

What is the difference between post transcriptional modifications and post translational modifications

A

Post Transcriptional - g cap, poly A tail, splicing
Post Translational - phosphorylation, methylation, acetylation, proteolysis, glycosylation

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4
Q

How do we initiate transcription

A

Attach to Promoter

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5
Q

What is special about the promoter, what is found within it

A

Transcription factors bind to TATA box, CpG islands

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6
Q

Difference between DNA methylation and histone

A

DNA methylation - decrease transcription
Histone Methylation - increases transcription

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7
Q

polymorphism

A

DNA variation that is really common

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8
Q

Penetrance vs Variable Expressivity

A

Penetrance - Proportion of individuals with a certain genotype that shows the expected phenotype
Variable Expressivity - Variable degree to which the genotype can be expressed in an individual

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9
Q

X-
XXY-
XXX-
XYY-

A

X- turner syndrome
XXY- kinefelter syndrome
XXX- normal
XYY- normal

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10
Q

Role of SRY gene in sex determination

A

Embryo develops testies, no SRY develops ovaries

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11
Q

What are the 3 main types of inheritance of mitochondria and chloroplast DNA

A

Maternal organelles in offspring derived from the mother
Paternal from father
Biparental from either the mother or the father

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12
Q

What is the difference between DZ and MZ twins

A

DZ - fraternal
MZ - identical

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13
Q

How to do concordance rate?

A

36 MZ twins both with, 40 MZ twins half with, 336 MZ twins neither
36(36+40)=47%

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14
Q

Hybrid Vigor

A

cross between two different true breeding homozygotes result in stronger phenotype

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15
Q

Epigenetics

A

changes in expression in a gene of set of genes without a change in DNA sequence, changes are HERITABLE and stable, but are REVERSIBLE

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16
Q

What are epigenetics’ two main processes

A

DNA methylation, chromosomal protein alteration

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17
Q

Cytosine residues in DNA can be modified by the _____ addition of a _______ group

A

covalent, methylation

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18
Q

Clusters of CpG sites in the genome are called?

A

CpG islands, they are often found in promoters that are unmethylated

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19
Q

Effects of DNA methylation

A

attracts proteins that are involved in the repression of transcription
important for development
cause cancer mutations

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20
Q

What is chromatin remodeling

A

changes in chromatin structure

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21
Q

Acetyltion of histones modifies nucleosomes to make DNA more accessible results in ___________. Histones are demethylated nucleosomes that remain intact holding DNA compact results in ____________.

A

Increased transcription
Blocked transcription

22
Q

Euchromatin vs Heterochromatin

A

Euchromatin - diffuse and light; contains DNA that is transcribed into mRNA
Heterochromatin - condensed and dark; DNA not transcribed, heavy methyls

23
Q

Barr Bodies can be seen…

A

in interphase in human females (cheek cells)

24
Q

Xist

A

non-coding RNA on the X chromosome
major effector of the X-inactivation process.

25
3 Things in X-Inactivation
early in development, random inactivation, result in clones (Ex: Calico Cat)
26
DNA sequences regulate rate of transcription what are two examples of them
Promoters: directly in front of the gene Enhancers: farther away Both are DNA sequences
27
What are the two examples of transcription factors. They must assemble on the chromosome before RNA polymerase can bind to promoter
General and regulatory
28
_______ binds to the TATA box; then other transcription factors bind, forming a transcription complex
TFIID TF interacts with RNA polymerase
29
Transcription factors regulate the rate of transcription
true
30
Positive and negative regulator examples
positive - enhancers, gene is not normally transcribed activator binds to stimulate transcrption negative - silencers, gene is normally transcribed but binding of repressor prevents transcription
31
Can multiple genes be regulated at the same time
yes
32
Enzyme changes nucleotide sequences. RNA editing --> ________. They are NOT _________. Goes to specific locations and changes _____.
change mRNA, splicing, one
33
miRNA this is post transcriptional
small regulatory of noncoding RNA important for gene expression
34
RISC complex
uses the siRNA or miRNA as a template for recognizing complementary mRNA
35
What are the three ways to regulate mRNA translation:
miRNA, 5' end if G cap is not present at mRNA translation, repressor proteins block translation directly
36
Protein Modifications: Proteolysis, glycosylation, phosphorylation
Proteolysis - cleaving by proteases Glycosylation - addition of sugars to form glycoproteins Phosphorylation - addition of phosphate groups by kinases
37
How do CDKs get actively degraded
they are tagged with ubiquitin which binds to proteasome complex and are digested
38
Promoter gene expression depends on...
promoter, enhancers and multiple transcription factors
39
What is the most efficient way to regulate gene expression
mRNA transcription
40
a clustor of gene with a single promoter is an ______
operon
41
An operon consists of
a promotor, two or more protein coding genes, an operator (operator binds to a repressor protein which blocks transcription
42
Lac Operon is always off or on?
OFF it is inducable (need receptor to turn on)
43
How does lac work?
Lactose trigger on, binds to repressor, chhanges shape, falls off, translation ocurs
44
Mutation in LacI would always be ___ because repressor won't be able to be made
off
45
Operator is mutated in LacI would cause it to be ___
ON, because it is only when the promoter is mutated that the LacI is off
46
The repressor protein has two binding sites:
one for operator one for inducer
47
Inducer:
compound that inhibits gene expression by inhibiting a repressor
48
Activator:
Binds DNA directly to influence RNA polymerase
49
If the inducer is absent operon is ___
off, when bound it is on and the inducer binds changing the shape of the repressor
50
_______ binding next to the lac operon promoter activates the operon
CRP-cAMP