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MCM > Week 2 > Flashcards

Week 2 Flashcards

1
Q

Silent mutation

A

No change in amino acid

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2
Q

Missense mutation

A

Changes amino acid in protein w/ either no effect on protein function or completely changes function

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3
Q

Nonsense mutation

A

Codon changed to stop codon

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4
Q

Frame shift mutation

A

One ore more nucleotide deleted or inserted into ORF

out of frame causes change in amino acid sequence

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5
Q

Wobble hypothesis

A

Explains why so many alternative codons for amino acid differs by third nucleotide
Refers to tRNA binding to mRNA sequence

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6
Q

Aminoacyl tRNA

A

Catalyzes activation of aa by transferring AMP to COOH end

Then transfers aa from aa-AMP to cognate tRNA

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7
Q

Translation of mRNA steps

A

tRNA BINDING
peptide bond formation
Large subunit translocation
Small subunit translocation

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8
Q

Elongation factors for translation

A

Binds GTP and aminoacyl tRNA and escorts to ribosome (checks is amino acid -tRNA match is correct
Critical proofreading steps in protein synthesis

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9
Q

Ribosomal complex sites

A

Acceptor (A) site
Peptidyl (P) site
Empty (E) site

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10
Q

Stop codons

A

UAA, UAG, UGA

U R ANNOYING, U GO AWAY, U R GONE

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11
Q

Streptomycin

A

Binds 30s to disrupt translation

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12
Q

Shiga toxin

A

Binds 60s subunit and disrupts elongation

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13
Q

Clindamycin and erythromycin

A

Bind 50s subunit to disrupt translocation of ribosome

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14
Q

Tetracycline

A

Bind 30s subunit to disrupt elongation

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15
Q

Polysomes

A

Clusters of ribosomes that attach to single polypeptide chain making protein synthesis more efficient

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16
Q

Protein sorting sequence for mitochondria

A

N terminal hyrophobic a-helix

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17
Q

Protein sorting sequence for nucleus

A

Lys and Arg rich terminal domain

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18
Q

Protein sorting ER signal sequence

A

Positively charged amino acids at N-terminus

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19
Q

ER retaining signal sequence

A

Lys, Asp, Glu, Leu

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20
Q

Protein sequence destined for PM

A

Apolar N terminus

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21
Q

HSP 70

A

Protects unfolded proteins as they pass through TOM and TIM

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22
Q

Chromosome morphology

A

Metacentric
Submetacentric
Acrocentric
Telocentric

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23
Q

Chromosome areas

A

P arm
q arm
Centrosome

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24
Q

Proband in a pedigree

A

First diagnosed person in pedigree

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25
Q

Protein sorting sequence for mitochondria

A

N terminal hyrophobic a-helix

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26
Q

Protein sorting sequence for nucleus

A

Lys and Arg rich terminal domain

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27
Q

Protein sorting ER signal sequence

A

Positively charged amino acids at N-terminus

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28
Q

ER retaining signal sequence

A

Lys, Asp, Glu, Leu

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29
Q

Protein sequence destined for PM

A

Apolar N terminus

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30
Q

HSP 70

A

Protects unfolded proteins as they pass through TOM and TIM

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31
Q

Chromosome morphology

A

Metacentric
Submetacentric
Acrocentric
Telocentric

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32
Q

Chromosome areas

A

P arm
q arm
Centrosome

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33
Q

Proband in a pedigree

A

First diagnosed person in pedigree

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34
Q

Autosomal dominant inheritance

A

Only one allele is needed for expression
Recurrent risk for having affected children is 50%
Ex. Postaxial polydactyly

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35
Q

Autosomal recessive

A

Both alleles needed to influence phenotype

Ex. Tyrosine-negative albinism

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36
Q

X linked recessive inheritance

A

Ex. Duchenne muscular dystrophy

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37
Q

X linked dominant

A

Very rare, no carriers

Males transmit to only females

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38
Q

penetrance

A

Frequency a gene manifests itself

100% of individuals inheriting genetic defect show clinical presentation (phenotype) = 100% penetrance

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39
Q

Variable expressivity

A

Describes the range of phenotype that vary between individuals with specific genotype

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40
Q

Locus heterogeneity

A

Single disorder caused by mutations in genes at different chromosomal loci

Ex. Osteogenesis imperfecta, mutation in collagen genes at either chr 7 or 17, either mutation exhibits the same phenotype

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41
Q

Nondisjunction

A

Homologs fail to separate

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42
Q

Aneuploid

A

Cell with abnormal number of chromosomes

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43
Q

Euploidy

A

Cells with normal number of chromosomes

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44
Q

G1 checkpoint

A

Correct DNA damage before continuing

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45
Q

G2 checkpoint

A

Verify completeness of genomic duplication

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46
Q

Metaphase checkpoint

A

Ensures chromosome are attached to mitotic spindle

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47
Q

Nucleoside analogue inhibitors of DNA synthesis

A

analogues lack 3’ hydroxyl group

inhibits DNA polymerase

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48
Q

Xeroderma pigmentosum

A

skin is extremely sensitive to sunlight
causes thymine dimers to form
XP patients lack complete nucleotide excision repair (NER) complex

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49
Q

hereditary nonpolyposis colorectal cancers

A

involves mutation in mismatch excision repair (MER) complex

increased susceptibility to nonpolyposis colon cancers

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50
Q

Fragile X mental retardation

A

expanded CGG repeats in the FMR1 gene
leads to increased methylation and silencing of genes
as methylated repeats reach promoter, transcription is turned off

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51
Q

histone acetylation and methylation

A

losens DNA interaction with histone

aids in replication

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52
Q

nucleosome

A

basic unit of chromosome packing

DNA wound around Histone

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53
Q

Size of human genome

A

26,000 genes

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54
Q

Copy number variations

A

differences in genome

basis for our differences and for disease states

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55
Q

DNA helicase

A

unwinds DNA and hydrolyzes ATP

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56
Q

single-stranded DNA binding proteins

A

bind to exposed SS DNA during replication

prevents hairpins

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57
Q

DNA primer

A

directs directionality

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58
Q

DNA primase

A

synthesizes RNA primer 7-10 ribonucleotides long
then DNA polymerase extends with dNTPs
begins the synthesis of new DNA chains

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59
Q

topoisomerase

A 
relieves supercoiling (called DNA gyrase in bacteria)
breaks phosphodiester bond
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60
Q

DNA ligase

A

seals nicks in dna strand

61
Q

spontaneous DNA damage

A

depurination and deamination

leads to deletions or base pair substitutions in daughter strand during replication

62
Q

UV radiation DNA damage

A

forms pyrimidine dimers

63
Q

problem with methylated cytosines

A

produces T paired with G

special DNA glycosylase removes the T

64
Q

Direct enzymatic repair

A

DNA photolyase

catalyzes breakage of linked pyrimidines

65
Q

Base excision repair

A

DNA glycosylases + endonucleases
fixes single base mismatches
flip out DNA to detect damage

66
Q

Mismatch excision repair

A

removes the mismatch causing the deformation
MER complex
Hereditary nonpolyposis colorectal cancers caused by defect in MER complex

67
Q

Recombination repair

A

occurs after double strand breaks or inter strand cross linking
Non homologous end joining
Homologous recombination
- genetic info form undamaged strand is used to fix the the damaged strand

68
Q

Transcription coupled repair

A

type of NER
initiated when RNA polymerase stalls at lesion
RNA polymerase recruited repair proteins
Defects in TCR lead to Cockayne syndrome

69
Q

translesion synthesis

A

Uses DNA polymerase isozymes that do not have proofreading capabilities

70
Q

Cockayne syndrome

A

defect in transcription coupled repair

characterized by developmental and neurologic delay, photosensitivity and premature aging

71
Q

BRCA mutations and breast cancer

A

BRCA1 and BRCA2 are tumor suppressor genes

Mutations lead to increased risk duh

72
Q

siRNA

A

regulate gene expression by degrading select mRNA

73
Q

miRNA

A

block translation of selective mRNA

74
Q

snRNA

A

packages as part of splicosome

involved in splicing and export of mRNA

75
Q

RNA polymerase I

A

involved in synthesis of rRNA

76
Q

RNA polymerase II

A

synthesizes mRNA, snRNA and miRNA

77
Q

RNA polymeraseIII

A

synthesizes tRNA

78
Q

coding strand

A

non-template strand

79
Q

transcription start site

A

+1 position of gene
has A or G
site where transcription factors and RNA polymerase bind

80
Q

transcription stop site

A

poly A tail

81
Q

promoter

A

upstream sequence where transcription factors bind and recruit RNA polymerase

82
Q

enhancers/silencers

A

binding sites for transcription factors

influence rate of transcription

83
Q

general transcription factors

A

aids RNA polymerase binding to promoter to initiate transcription
TFIIA, TFIIB, TFIIC, TFIID

84
Q

initiation of trancription

A

begins with binding of TFIID to TATA box

subunit of TFIID is TBP that binds TATA box

85
Q

Histone acetyl transferase (HAT)

A

adds acetyl group to histone

loosens interaction with DNA

86
Q

Histone deacetylases (HDACs)

A

removes acetyl group from histone

87
Q

Chr 16p11.2

A

Chromosome 16
Region 1
Band 1
Sub-Band 2 on p arm

88
Q

independent assortment

A

daughter cell receives any combination of maternal and paternal homologues during meiosis

89
Q

genetic recombination

A

crossing over during prophase1 of meiosis

90
Q

Prader Willi syndrome

A

Methylation of one copy of chr 15 and deletion of the paternal copy of chr 15
Leads to uncontrolled eating and obesity

91
Q

Angelman syndrome

A

imprinting of paternal chr 15 and deletion of mothers chr 15

neurodevelopment disorders

92
Q

consanguinity

A

mating with your cousin
estimated that we have 1-5 recessive mutation lethal to offspring if matched with another carrier
Mating with first cousin increases risk up 9%
dont mate with your cousin

93
Q

polygenic

A

variations in traits caused by multiple genes

94
Q

liability distribution

A

for diseases that don’t follow the bell-curve for multifactorial diseases

95
Q

multifactoral diseises

A

caused by simultaneous influence of multiple genetic and environmental factors

96
Q

Permanent cell type

A

Remains in G0 phase
cannot be regenerated
neurons, cardiomyocytes, RBCs

97
Q

Stable (quiescent) cell type

A

have ability to exit G0 to G1

Hepatocytes, epithelial cells

98
Q

Labile cell type

A

never enter G0
constant divisions
gut epithelium, skin, hair follicle, bone marrow

99
Q

ubiquitin ligase

A

targets cyclin/CDKs for proteolysis by polyubiquitination

Can also target CKIs

100
Q

retinoblastoma

A

mutation in both RB genes
Hereditary and non-hereditary forms
Two hit hypothesis
Tumor suppressor gene

101
Q

p53 and cancer

A

tumor suppressor gene
two hit hypothesis
includes Li-Fraumeni syndrome and ataxia telangiectasia

102
Q

Replicative cell senescence

A

somatic cell division ceased
Due to shortening of telomeres
Somatic cells don’t have telomerase to preserve telomere length

103
Q

RAS and Cancer

A

Ras is oncogene

Mutation locks Ras in active state = increased signaling

104
Q

neurofibromatosis

A
  • Growth of tumor from nerve tissue

- Mutation leads to uncontrolled Ras activity

105
Q

small G proteins

A
  • associated with GPCR
  • have intrinsic GTPase activity
  • mutation can lead to cancer
  • includes Ras, Rab, Rho, Arf, Ran
106
Q

recognition domains for cell signaling

A

adapter proteins have SH2 or PTB domains that bind motifs on receptor that have phosphorylated Tyr

107
Q

Fibrosarcomas in chickens

A
  • Rous sarcoma virus causes fibrosarcoma in chickens

- oncogenic viral-src is cause

108
Q

restriction point of cell cycle

A
  • arrested in G1 when growth factors limited

- cell is independent of growth factors after restriction point

109
Q

INK4

A

CKI specific for G1 CDKs

-prevents association with cyclin D

110
Q

CIP/KIP family of CKIs

A

bind G1 and S cyclin-CDKs

111
Q

Cyclin E-CDK complex

A

active during G1-S phase

112
Q

Cyclin D-CDK complex

A

active for G1 phase

113
Q

Cyclin A-CDK and Cyclin B-CDK

A

initiates mitosis

114
Q

Cyclin A-CDK

A

active for S phase

115
Q

Wee1 kinase

A

inhibits cyclin-CDK by Phosphorylating Roof site

116
Q

Cdc25 phosphase

A

activates cyclin-CDK by dephosphorylating roof site

117
Q

p27

A

a CKI that controls G1/S CDKs and S-CDKs

118
Q

APC/C

A

activated by binding to Cdc20

  • ubiquitinates S and M-cyclins
  • allows transition to anaphase
119
Q

MDM2

A

keeps p53 inactive

120
Q

intrinsic apoptotic pathway

A

mitochondria dependent

BAX/BCL-2 key regulators

121
Q

initiator caspases

A

caspase 8 and 9

initiates apoptosis by activating executioner caspase

122
Q

executioner caspases

A

caspase 3

executes apoptosis

123
Q

extrinsic apoptosis pathway

A

EC signals bind death receptors

  • Fas and Fas Death receptor
  • forms DISC which activates caspase 8 or 10 which activate executioner caspase 3
124
Q

BAX protein

A

form pore in mitochondrial membrane following apoptotic signal
-releases cytochrome C

125
Q

BCL-2

A

anti-apoptotic protein

inhibits BAX aggregation

126
Q

proto-oncogenes

A
  • involved in signal transduction and execution of mitotic signals
  • become oncogenes following gain of function mutation
  • gene product that cause cell proliferation
127
Q

Hallmarks of cancer cells

A
  • produce own growth signals via oncogenes
  • evade tumor suppressors
  • activating invasion and metastasis
  • replicative immortality, continued expression of telomerase
  • inducible angiogenesis
  • resist apoptosis
128
Q

viral oncogenesis

A
  • virus integrates host protooncogene into its genome
  • mutations occur leading to oncogene
  • new species of retrovirus capable of transforming host cell
129
Q

Epstein-Barr virus

A

nasopharyngeal carcinoma

Burkett lymphoma

130
Q

Hep B virus

A

liver cancer

hepatocellular carcinoma

131
Q

HPV

A

cervical, uterine cancer

132
Q

Kaposi sarcoma-associated herpesvirus

A
  • observed in HIV patients

- endothelial cells allowed to be transformed into tumor instead of destruction by immune system

133
Q

MOA for Chemotherapies

A
  • Alkylating agents
  • Antimetabolites
  • Topoisomerase I & II inhibitors
  • Cytotoxic antibiotics
  • Mitotic inhibitors
134
Q

Homeodomain proteins and homeobox genes

A

regulate patterns of anatomical development

-HOX gene

135
Q

Hox genes

A

role in craniocaudal segmentation

136
Q

Retinoic acid

A

regulates Hox gene expression

-guides development of posterior embryo

137
Q

Pax gene family

A

transcription factors

-critical role in formation of tissues and organs

138
Q

Dlx Genes

A

role in appendage patterns and jaw and inner ear

139
Q

Msx genes

A

Prenatally- inhibitors of differentiation

Postnatally- maintains proliferative capacity

140
Q

T-box (Tbx) gene family

A

important for mesodermal layer development

-also important for specifying forelimb vs hindlimb

141
Q

Zinc finger proteins

A

involved in bone, cartilage development

  • zinc deficiency results in skeletal growth retardation
  • Sox genes are example
142
Q

SoxA

A

same as SRY

143
Q

WT1

A

Kidney and gonadal development

144
Q

BMP4

A

If present = ectoderm become epidermis

If blocked = ectoderm becomes neural plate

145
Q

SHH

A

binds Patched which is bound to Smoothened

regulates organogenesis, limb patterns and brain organization

146
Q

tumor suppressor genes

A

limit frequency of cell division

147
Q

Indirect ELISA

A

detects amount of antibody specific for antigen

148
Q

sandwich ELISA

A

detects the quantity of antigen

149
Q

short tandem repeats (STR)

A

varying repetitive regions of DNA between individuals

MCM (2 decks)

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