Final Review Flashcards

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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
Q

3 Things in X-Inactivation

A

early in development, random inactivation, result in clones
(Ex: Calico Cat)

26
Q

DNA sequences regulate rate of transcription what are two examples of them

A

Promoters: directly in front of the gene
Enhancers: farther away
Both are DNA sequences

27
Q

What are the two examples of transcription factors. They must assemble on the chromosome before RNA polymerase can bind to promoter

A

General and regulatory

28
Q

_______ binds to the TATA box; then other transcription factors bind, forming a transcription complex

A

TFIID
TF interacts with RNA polymerase

29
Q

Transcription factors regulate the rate of transcription

A

true

30
Q

Positive and negative regulator examples

A

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
Q

Can multiple genes be regulated at the same time

A

yes

32
Q

Enzyme changes nucleotide sequences. RNA editing –> ________. They are NOT _________. Goes to specific locations and changes _____.

A

change mRNA, splicing, one

33
Q

miRNA this is post transcriptional

A

small regulatory of noncoding RNA important for gene expression

34
Q

RISC complex

A

uses the siRNA or miRNA as a template for recognizing complementary mRNA

35
Q

What are the three ways to regulate mRNA translation:

A

miRNA, 5’ end if G cap is not present at mRNA translation, repressor proteins block translation directly

36
Q

Protein Modifications:
Proteolysis, glycosylation, phosphorylation

A

Proteolysis - cleaving by proteases
Glycosylation - addition of sugars to form glycoproteins
Phosphorylation - addition of phosphate groups by kinases

37
Q

How do CDKs get actively degraded

A

they are tagged with ubiquitin which binds to proteasome complex and are digested

38
Q

Promoter gene expression depends on…

A

promoter, enhancers and multiple transcription factors

39
Q

What is the most efficient way to regulate gene expression

A

mRNA transcription

40
Q

a clustor of gene with a single promoter is an ______

A

operon

41
Q

An operon consists of

A

a promotor, two or more protein coding genes, an operator (operator binds to a repressor protein which blocks transcription

42
Q

Lac Operon is always off or on?

A

OFF it is inducable (need receptor to turn on)

43
Q

How does lac work?

A

Lactose trigger on, binds to repressor, chhanges shape, falls off, translation ocurs

44
Q

Mutation in LacI would always be ___ because repressor won’t be able to be made

A

off

45
Q

Operator is mutated in LacI would cause it to be ___

A

ON, because it is only when the promoter is mutated that the LacI is off

46
Q

The repressor protein has two binding sites:

A

one for operator
one for inducer

47
Q

Inducer:

A

compound that inhibits gene expression by inhibiting a repressor

48
Q

Activator:

A

Binds DNA directly to influence RNA polymerase

49
Q

If the inducer is absent operon is ___

A

off, when bound it is on and the inducer binds changing the shape of the repressor

50
Q

_______ binding next to the lac operon promoter activates the operon

A

CRP-cAMP