week 1. genomes, evolution, and genetics Flashcards

(52 cards)

1
Q

genome

A

carry info for all RNA and protein

determine structure and fxn of organism

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2
Q

viral genomes

A

DNA (herpes), RNA (HIV-1), ssDNA, dsDNA, integrate into the host cell genome (HIV), much smaller than the human genome (fekbs-6Mbs), no introns

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3
Q

bacterial genomes

A

prok are dsDNA
single csome, circ or linear
no introns
1000s bp to 1Mbps

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4
Q

human genome

A

haploid has 3 billion bps
1.5% encodes for proteins
27000 coding genes
99.9% identical at DNA level

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5
Q

human mitochondrial DNA

A

circular duplex molecule, 13 proteins, both trx and trn. happen in mitochondria
mito DNA comes from mother

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6
Q

nt content of human genome

A

30% genes, 1.5% exons, 45% transposons,25% miscellaneous

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7
Q

genomic evolution

A

genome sequences of 2 species differ in proportion to the length of time that they have separately evolved
comparisons of nt sequ. reveal conserved sequ.

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8
Q

purifying selection

A

why there is sequence conservation for less closely related organisms

usually conservation in exons and differ greatly in intron sequence

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9
Q

homologous genes

A

similar sequence and function seen across vast phylogenetic distances
protein, RNA, and reg. regions coding highly conserved

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10
Q

synteny

A

conservation of gene order on csomes

like human and mouse beta-globin gene cluster

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11
Q

gene duplication

A

during replication, proves impt. source of genetic novelty and biological complexity during evolution (think glob ins and antibodies)

sometimes both copies remain fxnl while diverging in pattern of expression

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12
Q

pseudogenes

A

loss of fxn in one or the other gene, or irreversibly inactivated by mutations

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13
Q

SNP- single nucleotide polymorphisms

A

postions in a genome where some individuals have one nucleotide and others have different

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14
Q

SSLP- simple sequence length polymorphisms

A

tandem repeat sequences that display length variations
minisatellites
microsatellites

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15
Q

4 P’s in P4 medicine

A

predictive, preventative, personalized, participatory

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16
Q

semi-conservative replication

A

keeps parent strand, maintains integrity of the DNA

needs ATP, nt bases, 3”OH, DNA poly., primers

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17
Q

DNA polymerase

A

catalyzes DNA synthesis
only in 5’-3’ direction
NEEDS 3’ OH
synthesis in active site,

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18
Q

replication fork

A

@origin of replication, where DNA is split

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19
Q

leading strand

A

synthesized continuously

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20
Q

lagging strand

A

synth discontinuously with okazaki fragments (RNA primers)

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21
Q

Necessary components for DNA synth

A

DNA primase- makes RNA primer
DNA poly- adds primer, synth leading
Okaz. frag- fragment added to lagging strand
DNA ligase- seals nicks

22
Q

RNAse H

A

helps synth ssRNA

23
Q

DNA helicase

A

pries apart the double helix using ATP hydrolysis

24
Q

ssDNA binding protein

A

prevents ssDNA from forming hairpins

25
sliding clamp protein complex
holds DNA pol. on the DNA template
26
DNA topoisomerase
causes ds breaks to relieve supercoiling- prevents tangling
27
AZT-zidovudine
medication that prevents DNA replication, it removes the 3'OH so polymerization stops
28
acyclovir
DNA polymerase inhibitor, drug taken by body and turned into a nt analogue, but it prevents polym bc it is lacking 3'OH
29
Human type II topoisomerase
required for gene expression and DNA replication | Uncoils chromatin so DNA can be accessed for replication
30
inhibitors of topoisomerase
Irinotectan (Camptosar) Ciprofloxacin (Cipro) Etoposide (Toposar) Doxorubicin (Adriamycin)
31
DNA synth proofreading mechanisms
most come from 5-3' poly (1 in 10^5) exonuc. proofreading strand directed mismatch total: 1 in 1 billion bases
32
Endogenous DNA damage
attack by reactive oxygen species (ROS) | replication errors
33
Exogenous DNA damage
UV and ionizing radiation (xray, gamma ray, plant toxin) man-made mutagenic chemicals (intercalating agents, chemo) viruses
34
Base excision repair
For xray, ROS, alkylating agent damage removes U, AP endonuclease and phosphodiesterase remove sugar-phosphate DNA pol comes in and replaces, ligase seals nick
35
Nucleotide excision repair
UV light, polycyclic aromatic hydrocarbon damage, PYRIMIDINE DIMERS nuclease cuts, helicase removes chunk of dimer +some nt (looking for bulky lesions) DNA pol and ligase fills and repairs
36
recombinational repair (HR/NHEJ)
crosslink, double strand break
37
mismatch repair
swapping bases
38
alterations to cause DNA repair
methylation, hydrolysis, oxidation, deamination, depurination
39
depurination
can cause deletion if not repaired
40
deamination
if not corrected, causes substitution of one base for another
41
non homologous end joining
repairs ds breaks, chop off nt and stick them together, lose nucleotides, may be in intron so it might not affect anything
42
homologous end joining
use sequence from other chromosome strand as the template to maintain the integrity of the chromosome. uses recombination info (shouldn't) be lost
43
MSH2, 3, 6 | MLH1, PMS2
phenotype: colon cancer, HNPCC | enzyme or process affected: mismatch repair
44
Xeroderma pigmentosum (XP)
Phenotype: skin cancer, cellular UV sensitivity | Enzyme or process affected: NT EXCISION REPAIR
45
Ataxia-telangiectasia (AT)
pheno: leukemia, lymphoma, cellular gamma ray sensitivity enzyme: ATM protein kinase
46
BRCA2
pheno: breast and ovarian cancer enzyme: homologous recomb.
47
Fanconi anemia groups A-G
pheno: congenital abnormalities, leukemia, genome instability enzyme: DNA inter strand cross link repair
48
DNA recombination
crossing over, not mutations, necessary for genetic variation in a population
49
Homologous recombination
breaking and joining of two homologous DNA double helices occurs over long stretches of DNA during meiosis exchange genetic materia used to repair ds strand breaks
50
homologous recombination with crossing over
Homologous csome has a strand break, exonuclease moves things to make staggered ends Then you have strand invasion into the good csome strands Then base pairs, but now the strands are all stuck together Break them apart but if you cut one way, there is no crossing over (copy genetic material), cut the other way and crossing over occurs exchanges genetic material (at holliday junction)
51
site specific recombination
movement of specialized nucleotide sequences called transposons between non homologous sites DNA only- short inverted repeats, cut and paste retroviral-like retrotransposons- LTR, reverse transcriptase and integrase nonretroviral retrotransposons- poly A tail of RNA, RTase and endonuc.
52
cut-and-paste transposition in prokaryotes and plants
Transposons are inverted repeats, transposase cuts them out, then the dna is rejoined The transposons can drop that dna into another csome when it has target sequences