Topic 3 Flashcards

1
Q

central dogma of bio

A

DNA =>(transcription) RNA =>(Translation) Protein

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2
Q

Promoter

A

DNA sequence that tells cell where to start making mRNA

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3
Q

in what direction is RNA made

A

5’ to 3’

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4
Q

exons

A

e=expressed

are going to be made into protein

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5
Q

introns

A

i=interspersed

not made into protein

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6
Q

splicing

A

takes out introns and leaves the exons

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7
Q

pathway of posttranscriptional mRNA processing

A
DNA template (3' - 5')
-transcription
Pre-mRNA (5'-3')
-cap and tail added
Processed pre-mRNA
-splicing
Spliced mRNA
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8
Q

relationship between exons and proteins

A

exons correspond to protein domains

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9
Q

start codon is always

A

AUG (MET)

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10
Q

what is the start codon

A

where the cell starts translation (starts polypeptide)

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11
Q

promoters

A

sequence of DNA that proteins bind to, to initiate transcription of 1 RNA from the DNA

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12
Q

silencers

A

a DNA sequence capable of binding transcription regulation factors (repressors)

prevent genes from being expressed as proteins

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13
Q

enhancers

A

short pieces of DNA that increase transcription of target genes

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14
Q

origins of replication

A

sequence where replication is initiated

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15
Q

telomeres

A

the end of a chromosome (repetitive sequences of non-coding DNA that protect the chromosome from damage)

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16
Q

centromeres

A

what separates into short and long arm during cell division, holds together the sister chromatids

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17
Q

tRNA

A

transfer RNA - read codons on RNA & mRNA and deliver the appropriate amino acid to the ribosome for protein sythesis

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18
Q

rRNA

A

ribosomal RNA

carries out protein synthesis in ribosomes

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19
Q

snRNA

A

processes pre-mRNA in the nucleus

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20
Q

noncoding DNA

A

used to be called “junk DNA”, but now scientists are finding out that noncoding DNA does have function

codes for things like regulatory regions, origins of rep, chromosomal structures and transcriptions of RNA mols

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21
Q

can you change the amount of gene product and why?

A

yes for example, in a stressed environment, more gene products will be created more quickly

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22
Q

which regulatory region of DNA sequence do you hypothesize that genes that control the same processes have in common?

A

promoters, because they are all responding to the same promotion signal

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23
Q

what are single nucleotide polymorphisms (SNP)

A

the most common type of genetic variation among people

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24
Q

what does each SNP represent

A

a difference in a single nucleotide change in DNA

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25
Q

how often do SNPs occur

A

occur once in very 300 nucleotides, roughly 10 million SNPs in the human genome

26
Q

alternative splicing

A

enables an mRNA to directly synthesize defferent protein variants (this is why worms and humans are different)

27
Q

what things can mutations effect

A
  • promoter/enhancer/inhibitor sequences
  • termination signals
  • splice donor and acceptor sites
  • ribosome binding sites
  • also effects noncoding regions
28
Q

point mutations or base substituation

A

change from one base pair to another

29
Q

missense mutation

A

results in new triplet code for different amino acid

30
Q

nonsense mutation

A

results in triplet code for stop codon (translation terminated prematurely)

31
Q

silent mutation

A

new triplet code still codes for same amino acid

32
Q

base subs - transitions

A

pyrimidine replaces pyrimidine or purine replaces purine

33
Q

base subs - transversions

A

purine and pyrimidine are interchanged

34
Q

frameshift mutations

A
  • result from insertions or deletions of base pairs
  • loss or addition of nucleotide causes shift in reading frame
  • frame of triplet reading during translation is altered

ex)
UAG AAA
GAA

35
Q

loss of function mutation

A

reduces/eliminates function of gene product

36
Q

null mutation

A

results in complete loss of function

37
Q

dominant mutation

A

results in mutant phenotype in diploid organism

38
Q

dominant gain of function mutation

A

results in gene with enhanced negative, or new function

39
Q

haploinsufficiency

A

a situation where the total level of a gene product produced by the cell is about half of the normal level, which is not sufficient for the cell to function normally

40
Q

dominant-negative

A

a mutation resulting in a gene product that can interfere with the function of the normal gene product in heterozygotes

41
Q

spontaneous mutations

A

changes on nucleotide sequence that occur naturally

42
Q

how do spontaneous mutations arise

A

from normal biological or chemical processes that alter nitrogenous bases

43
Q

spontaneous mutation rates

A

vary, but are exceedingly low for all organisms

44
Q

induced mutations result from…

A
  • extraneous factors (natural or artificial)
  • radiation
  • UV light
  • natural and synthetic chemicals
45
Q

what do mutations arise from

A

replication

46
Q

why do mutations arise from replication

A
  • replication is imperfect
  • DNA polymerase occasionally
  • misincorporated nucleotides persist after proofreading
  • errors due to mispairing predominantly lead to point mutations
47
Q

mutagens

A

-natural or artificial agents that induce mutations

48
Q

examples of mutagens

A
  • fungal toxins
  • cosmic rays
  • ultraviolet light
  • industrial pollutants
  • medical x-rays
  • chemicals in tobacco smoke
49
Q

what do repair systems counteract

A

spontaneous and induced DNA damage

counteract genetic damage that would result in genetic diseases and cancer

50
Q

DNA repair system

A

maintains the integrity of genetic material

51
Q

mutations in what gene cause cystic fibrosis

A

CFTR

52
Q

what mutation class does the CFTR mutation belong to

A

loss of function

53
Q

what gene codes for the lactase enzyme

A

LCT

54
Q

individuals who can digest lactose have…

A

a mutation in the LCT regulatory element that leads to sustained lactose production in the small intestine and the ability to digest lactose throughout life

55
Q

mutations in what gene cause sickle cell disease

A

HBB gene

56
Q

loss of function

A

the altered gene product lacks the molecular function of the normally functioning gene

57
Q

reduction of function

A

reduces the normal function

58
Q

dominant negative

A

a mutation whose product negatively effects the normal wild type gene product within the same cell

59
Q

gain of function

A

more function to the wild type

60
Q

dominant gain of function

A

mutation in which the altered gene product has a new molecular function or new pattern of gene ecpression