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Genetics Exam 3 Flashcards

1
Q

forward genetics

A

see a mutation and go back and see what caused it

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2
Q

reverse genetics

A

you introduce the mutation

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3
Q

transcription

A

synthesizes three types of RNA from information in DNA

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4
Q

translation

A

uses the information in mRNA to synthesize proteins

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5
Q

Indirect evidence that DNA is genetic information

A
  • protein abundant in cytoplasm, DNA is not
  • mitochondria and chloroplasts perform genetic function, and DNA is present in these organelles
    -somatic cells are diploid and gametes are haploid
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6
Q

UV Light

A

-capable of introducing mutations in the genetic material at a wavelength of 260 nm
-DNA and RNA absorb UV light most strongly at 260 nm
- protein absorbs most strongly at 280 nm
260/280 ratio used to assess nucleic acid content
- ratio of 1.8 is pure for DNA, 2.0 is pure for RNA

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7
Q

what makes up DNA?

A

nucleotides (building blocks of DNA)

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8
Q

What does a nucleotide consist of?

A

nitrogenous base, pentose sugar, phosphate group

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9
Q

Pyrimidine

A

C (cytosine), T(thymine), U(uracil)

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10
Q

Purine

A

A (adenine), G (guanine)

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11
Q

how are nucleotides linked?

A

phosphodiester bond-> between the phosphate group at the C-5’ position and the OH group on the C-3’ position

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12
Q

oligonucleotides

A

short chains consisting of up to 20-50 nucleotides

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13
Q

poylnucleotides

A

longer chains, give rise to variation

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14
Q

denaturation

A

melting, strands separating by heat

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15
Q

hyperchromic shift

A

used to determine meting temperature (Tm), increase in the absorption of light

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16
Q

nucleic acid electrophoresis

A

electric field separates DNA and RNA fragments by size, smaller fragments migrate through a gel at a faster rate than large fragments
- medium such as agarose gel or polyacrylamide gel with various pore sizes
- higher percent= smaller pores

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17
Q

conservative replication

A

parental strands re-pair

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18
Q

semiconservative replication

A

one old strand and one new strand

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19
Q

dispersive replication

A

some old and new on each chromosome

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20
Q

initiation (transcription)

A

unwind DNA, find a starting place, build replication fork

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21
Q

elongation

A

DNA replication

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22
Q

termination

A

finish DNA replication

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23
Q

ORI

A

origin of replication

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24
Q

primase

A

an enzyme that synthesizes short RNA sequences called primers
- binds to DnaB helicase, recognizes a specific target sequence that serves as a template for primer

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25
DNA polymerase
des to the 3' end of an existing DNA or RNA molecule (5' to 3' direction) - helps reshape the dsDNA helix by aiding in H-bond formation between the bases in the old and new DNA strand - proof-reads and corrects mistakes
26
DNA Pol1
removes primer and fills in gap between Okazaki fragments with DNA
27
DNA ligase
connects the phosphate backbone
28
Where is a new nucleotide attached
attached to the -OH group on the 3' end of the DNA
29
Eukaryotic DNA replication
- more than 10 DNA Pols - different DNA Pols for leading and lagging strand synthesis - nucleosomes are disassembled and immediately reassembled following DNA replication
30
telomerase
ribozyme, an enzyme with protein and RNA components - adds nucleotides to end of DNA strand
31
annealing
renaturing
32
to create DNA in vitro you need:
template DNA, primer, DNA polymerase, dNTPs, energy
33
cycle threshold
once reaches this point, it is what the test is "positive", detectable fluorescent signal
34
ORF
open reading frame
35
Automated Sanger sequencing pros and cons
Pros: accurate, read length about 400 bp Cons: High cost, relatively low throughput
36
next generation sequencing
post-Sanger sequencing technologies - high throughput
37
Library
a collection of close to uniformly sized fragments of the genome with adapters
38
adapter
known sequence ligated to end of the library fragments to enable amplification
39
template
a single fragment from the library
40
read
the qesuence of a single template determined by sequencing reaction
41
read length
the number of base pairs in a read
42
throughput
-amount of data a sequencing instrument can produce in a run - equal to read length* number of reads, is a number in base pairs
43
alignment
lining up the reads to an existing sequence based on matching
44
assembly
lining up the reads to themselves to find best matches
45
consensus sequence
the best guess for a given sequence based upon alignment/assembly of multiple reads
46
mutation
change in DNA coupld potentially lead to a change in phenotype - can be beneficial, harmful, neutral - have to be heritable
47
transition
purine replaced by another purine or pyrimidine replaced by another pyrimidine
48
transversion
purine replaces by pyrimidine or pyrimidine replaced by purine
49
silent mutation
codon codes for same amino acid
50
missense mutation
codon specifies a different amino acid
51
synonymous missense mutation
codon specifies chemically similar amino acids
52
nonsynonymous missense mutation
codon specifies chemically dissimilar amino acid
53
nonsense mutation
codon signals chain termination
54
spontaneous lesions
deamination of cytosine generate uracil- complements with A
55
oxidative damage
8-Oxo-7-hydrodeoxyguanosine can mispair with A causing G-T transversions
56
mutation repair mechanisms
- prevention of errors - damage reversal - excision repair - post replication repair
57
prevention of errors
superoxide dismutase/catalase function - converts superoxide radicals into hydrogen peroxide, then catalase converts H2O2 into water
58
reversal of damage (photolyase)
- direct repair of mutant bases - photolyase: recognizes and binds to cyclobutene pyrimidine photo dimer following UV exposure; separates dimer into original conformation at certain wavelengths of light; no longer used in placental mammals
59
SOS Bypass System (in Bacteria)
cell trades death for certain level of mutagenesis
60
Postreplication repair
-Mismatch-repair system: recognizes mismatched base pairs, determines which base is correct, excise incorrect base and repair
61
ow to tell old from new strand
old strand is methylated, new strand is not, old strand (methylated) is correct
62
genome
all the genetic material in a cell
63
transcriptome
all the RNA present in a cell
64
Proteome
all the protein present in a cells
65
sigma factor
subunit of RNA polymerase that binds to the -10 and -35 elements on the coding strand, bends dsDNA causeing the -10 element to become single stranded
66
terminator sequence
- once this has been transcribed, termination of RNA occurs - palindromes that cause the new single-stranded RNA to fold back on itself creating a stem/loop structure
67
DNA binding domain
allows protein to bind to DNA
68
Protein binding domain
allows protein to interact with another protein
69
regulatory domain
region of domain that binds to a cofactor
70
trans-activation domain
interacts with RNA polymerase
71
lac operon
breakdown of lactose into glucose and galactose
72
permease
transports lactose into cell
73
beta-galactosidase
cleaves lactose
74
What happens if both glucose and lactose are present in the cell?
cell will utilize almost all glucose before switching to lactose
75
RNA Pol II
mRNAs
76
RNA Pol I
rRNAs
77
RNA Pol III
tRNAs, snRNAs, and scRNAs
78
metabolome
metabolic byproducts
79
ribosomes
enzymes that perform protein translation - contains protein and rRNA components - consists of large and small subunit
80
tRNA
short RNAs that bring amino acids to the ribosome
81
Shine-Dalgarno sequence
ribosome binding site
82
initiation factors
small proteins that aid in ribosome assembly
83
end product of initiation of translation
ribosome is assembled on mRNA and the first tRNA is attached to the initiation codon in the P site of the ribosome
84
translation termination
release factor is recruited to the stop codon-> causes ribosome to disassemble and fall off the mRNA and the protein chain to be released
85
location of translation in prokaryotes vs eukaryotes
in eukaryotes, translation occurs in the cytosol, while transcription occurs in nucleus; transcription and translation are NOT coupled
85
Kozak sequence
in eukaryotes, ribosome binding site, overlaps start codon

Genetics (6 decks)

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