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Gene mutations / diseases > Mutations > Flashcards

Mutations Flashcards

1
Q

What do SMN1 mutations cause and how can this be treated?

A

cause spinal muscular atrophy; alternative splicing resulting in splicing out of the mutation-containing exon (exon 7)

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2
Q

what is caused by abnormal splicing of CD44?

A

tumor metastasis (fun fact: splice variants can be used as diagnostic and prognostic markers)

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3
Q

APC mutations cause (and, what is APC)

A

colon cancer; transcriptional regulatory protein

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4
Q

pRB mutations cause (what is pRB)

A

retinoblastoma and small cell lung cancer; transcriptional regulatory protein; inhibits cell cycle, and is inactivated by CDK phosphorylation (and cell can divide)

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5
Q

XP-B and XP-D mutations cause (and what are these proteins)

A

Cockayne’s syndrome, xeroderma pigmentosum, trichothiodystrophy; they are both subunits of TF2H and are transcriptional regulatory proteins. Specifically, XP-B opens the DNA at the promoter to permit initiation of transcription

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6
Q

p53 mutations cause

A

most cancers; p53 is a transcriptional regulatory protein

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7
Q

c-myc mutations cause

A

Burkitt’s lymphoma; c-myc is a transcriptional regulatory protein

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8
Q

RAR mutations cause

A

acute promyelocytic leukaemia; RAR is a transcriptional regulatory protein

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9
Q

SRY mutations cause

A

sex reversal; SRY is a transcriptional regulatory protein

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10
Q

PIT-1 mutations cause

A

dwarfism; PIT-1 is a transcriptional regulatory protein

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11
Q

XH-2 mutations cause

A

ATR-X (X-linked mental retardation); XH-2 is a transcriptional regulatory protein

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12
Q

What happens if there is decreased phosphorylation of E1F-4E?

A

does not bind the G-cap in the cytoplasm as tightly, resulting in overall decrease of cellular translation

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13
Q

Which snRNA recognizes the 5’ splice site (and what is the signal?)

A

U1 snRNA; signal is GU

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14
Q

Which snRNA recognizes the A-branch point?

A

U2 snRNA

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15
Q

What is the signal for the 3’ splice site, and what protein binds it?

A

AG; U2AF (U2 associated factor)

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16
Q

Explain the 2 biochemical steps of splicing

A
  1. the 2’ OH of the A at the branch point attacks the 5’ splice site phosphate
  2. The 3’ OH of exon 1 attacks the 5’ phosphate at the 3’ splice site.
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17
Q

What are the 2 enzymatic steps of 3’ polyA tail addition

A
  1. cleavage of 3’ OH

2. polyadenylation by hydrolysis of ATP –> AMP + PPi

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18
Q

What is one example of the result of alternative polyA site choice?

A

membrane bound (B cells) vs. secreted (plasma cells) forms of IgM

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19
Q

What is the polyA site consensus sequence?

A

AAUAAA

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20
Q

The polyA site consensus sequence is usually how many nucleotides upstream from the 3’ terminal polyA tract?

A

11-30

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21
Q

A single nucleotide change in the polyA site consensus sequence can cause which disease? (And what is the change?)

A

Alpha-thalassaemia (AATAAG instead of AATAAA)

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22
Q

What is one hypothesis for how alternative cleavage and polyadenylation activate oncogenes in cancer cells?

A

Shortening of the 3’ UTR may provide fewer target sequences for regulation of mRNA degradation by miRNA

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23
Q

What is the function of snRNA

A

splicing, located in the nucleus

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24
Q

What is the function of snoRNA

A

maturation of rRNA (forms ribosome), located in the nucleolus

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25
Q

what is the function of telomerase RNA?

A

template for telomere synthesis

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26
Q

What is the length of miRNAs, what is the precursor and what are some of their functions?

A

about 21 nucleotides long; derived from hairpin precursor; they bind to sites on the 3’ UTR of mRNA; an imperfect match results in degradation of mRNA OR repression of translation; a perfect match results in degradation of mRNA; they can also target the coding region or the 5’ UTR

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27
Q

What is the length of siRNAs, what is the precursor and what are some of their functions?

A

about 22 nucleotides long; derived from long double-stranded RNA; perfect match; target transposon or virus (mRNA degradation, transposon degradation, chromatin formation, transcriptional silencing)

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28
Q

What is the length of piRNAs, what is the precursor and what are some of their functions?

A

about 24-27 nucleotides long; long precursors in flies and mammals that are processed and can be amplified; target transposon (primary roles in spermatogenesis, germline, and control of mobile elements (transposons); transcriptional repression; may play role in epigenetic inheritance in worms)

29
Q

What do drosha and dicer do

A

first, drosha processes newly transcribed primary miRNA in the nucleus –> becomes pre-miRNA. Dicer cleaves pre-miRNA into 21-25 nt strands that fold back in hairpin structures (with 2-base overhang on 3’ ends). Dicer also cleaves siRNA

30
Q

What do argonaute proteins do

A

associated with RISC complex (RNA-induced silencing complex), cleave mRNA with miRNA, siRNA, piRNA

31
Q

What are the functions of lncRNAs and what is their size

A

over 200 nucleotides long

regulate development of skeletal muscle, cardiac muscle, and immune response

control gene expression by:

  • form complexes with protein, mRNA, miRNA
  • affect DNA methylation
  • histone modifications
  • chromatin structure
32
Q

How can antisense oligonucleotide therapeutics help treat diseases?

A

DNA oligonucleotides bind to mRNA (RNase is an enzyme in the cell that cleaves RNA-DNA hybrids–b/c they should not naturally occur in the cell)

bind at splice sites and force alternative splicing

siRNA binds to mRNA, RISC cleaves

anti-miRs bind to miRNA and inhibit function

mimic miRNA

33
Q

A western blot measures _______ by using labeled _______.

A

protein

antibody to the protein

34
Q

A southern blot measures _______ using labeled ________.

A

DNA

DNA or RNA hybrid probe

35
Q

A northern blot measures ______ using labeled _______.

A

RNA

DNA or RNA hybrid probe

36
Q

What are different types of vectors and what are they used for?

A

plasmid (25 kb, transformation)

bacteriophage (25 kb, infection, used for gDNA/cDNA libraries)

cosmid (combo of plasmid and phage, larger inserts of 45 kb are possible)

bacterial artificial chromosome (300 kb, genome sequencing, chromosome mapping)

yeast artificial chromosome (2 Mb, genome sequencing, chromosome mapping)

retrovirus (gene therapy)

37
Q

How does gel electrophoresis separate DNA?

A

DNA is cut by restriction enzymes, then run through the gel, migrates toward the anode b/c DNA is negatively charged, the shorter fragments can travel faster through the gel b/c of smaller size

38
Q

How does SDS-PAGE separate proteins?

A

Heat denatures proteins so they are unfolded, SDS adds negative charge, PAGE (polyacrylamide gel electrophoresis) separates by size (smaller proteins travel faster)

39
Q

How does microarray analysis work?

A

Compares gene expression in different cell types

make 2 cDNA libraries, 1 from each cell type, using 2 different dyes

microarray chips contain hybridization probes, can contain 8600 genes

if gene expression equal in both cell types, color will be mix of the 2, more of 1 color indicates that this gene is expressed more in that cell type

40
Q

What are the 3 stages and temperatures for PCR?

A

denature (95)
anneal (55)
elongate (72)

41
Q

What is a Restriction Fragment Length Polymorphism, and what is a disease that can be diagnosed by this method?

A

When there is a mutation that destroys the normal site of cleavage of a restriction enzyme–apply enzyme and get different result, tells you there is a mutation (example: HbS mutation that causes sickle cell anemia destroys the MstII site)

42
Q

cyclin proteins are needed for _________ of CDK

A

activation

43
Q

The Kip/Cip family of CDKNs include the proteins __________ (encoded by the genes ________) and are __________ of all CDKs

A

p21, p27, p57

CDKN1A, B, C

inhibitors

44
Q

The INK4 family of CDKNs include the proteins __________ (encoded by the genes ________) and are specific inhibitors of ________.

A

p16, p15, p18, p19

CDKN2A, B, C, D

CDK4/6-cyclinD1-3 complexes

45
Q

p16 CDKN2A is a ___________ and mutations in this gene can cause what types of cancer?

A

tumor suppressor

melanoma, head and neck cancer, non-small cell lung cancer

46
Q

What do mitogens/growth factors do?

A

signal at cell surface –> up-regulate transcription of cyclinD1-3 –> more cyclinD1-3-CDK 4/6 complexes –> inactivate Rb –> cell enters S phase

47
Q

How many origin sites are in the human genome?

A

100,000

48
Q

What are pre-replication complex formations, what is a major protein in the complex that opens the DNA helix for replication, and how do the pre-RC formations prevent re-replication?

A

multiprotein complexes that are loaded onto the origins in G1 phase

MCM DNA helicase

pre-RC can only be loaded in G1, and only activated in S (can’t be loaded and activated in the same phase)

49
Q

Which to sets of protein kinases are required for pre-RC activation in S phase?

A

S-CDK and DDK

50
Q

Where are the 2 major checkpoints located, what are their purposes, and what are the proteins that inhibit CDK cyclin complexes?

A

Before M –> checks for DNA damage after S phase, blocks entry into M (p53, Chk2, ATM, ATR)

During M –> checks for damage of spindle fibers and blocks exit from M if there is damage

51
Q

Mutated p53 or Chk2 can cause what disease?

A

Li Fraumeni syndrome

52
Q

What does Km describe?

A

The amount of substrate needed for the enzyme to function at 1/2 Vmax

53
Q

What does Kcat describe?

A

The turnover number (the number of substrate molecules converted to product in a given unit of time on a single enzyme molecule when the enzyme is saturated with substrate

54
Q

When Kcat/Km approaches ________ the enzyme is nearing “catalytic perfection)

A

10^8 M^-1s^-1

55
Q

What is the TATA-box binding protein

A

TFIID

56
Q

What TF is involved in both transcription initiation and repair?

A

TFIIH

57
Q

What does RNA Pol 1 do

A

rRNA

58
Q

What does RNA Pol2 do

A

mRNA, regulatory RNAs (snRNA, snoRNA, lncRNA), small non-coding RNAs (siRNA, miRNA)

59
Q

What does RNA Pol3 do

A

tRNA

60
Q

What proteins are involved in detection of double-strand DNA breaks?

A

ATM and ATR –> phosphorylate BRCA1 –> activated BRCA1 determines whether HR used to repair DNA double-strand breaks

61
Q

What are the reasons DNA double strand breaks can occur naturally?

A

meiosis
class switching (B-cells and T-cell receptors)
DNA replication
retroviruses/retro-transposon insertion

62
Q

What are some reasons DNA double strand breaks can occur (not naturally)?

A

ionizing radiation

medical imaging

63
Q

What are the 2 pathways of repair of double-strand DNA breaks, and what are the proteins that determine which path to take?

A

Homologous recombination (determined by phosphorylated BRCA1)

NHEJ (non-homologous end joining, determined by 53BP1)

64
Q

misregulated homologous recombination can lead to ___________

A

heterozygosity

65
Q

about how many NHEJ “footprints” are there on an average 70-year-old somatic cell?

A

2,000

66
Q

What types of DNA damage are repaired by direct reversal?

A

specific DNA strand break

alkylation (repaired by MGMT, silence by promoter methylation in 45% of human glioblastomas)

UV damage (though more frequently repaired by NER

67
Q

Which type of DNA repair uses glycosylases?

A

base excision repair

68
Q

What are 2 drugs that inhibit reverse transcriptase?

A

ddl

AZT

69
Q

Which diseases are caused by accumulation of purines in the tissues?

A

gout

Lesch-Nyhan disease

Gene mutations / diseases (1 decks)

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