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42 Cards in this Set

  • Front
  • Back
transition mutation
the positions of purines and pyrimidines have not changed
transversion mutation
if the positions of purines and pyrimidines have changed
Ionizing radiation (X-rays, gamma-rays)
Causes double-strand breaks, which are particularly sinister
Excites water molecules to form reactive oxygen species such as OH and O2-
Agents of DNA damage
Ultraviolet (UV) light
Oxidizing agents such as hydroxyl radicals (OH )
Ionizing radiation (X-rays, gamma-rays)
Alkylating agents
Water
DNA polymerase
CPD photolyase
uses light energy and the FADH- cofactor to split cyclobutane rings and restore the original chemical structure to adjacent pyrimidines. Not found in humans
O6 - alkylguanine/O4 - alkylthymine
alkylated guanine/thymine from which alkyl transferases can remove the alkyl groups
suicide enzyme
once it is used, it cannot be used again (alkyl transferases)
DNA glycosylase
are tuned to detect and remove particular types of damaged bases
Ung
DNA glycosylase in E coli, removes uracil that has ended up in DNA
MutM
DNA glycosylase in E coli, removes oxoG
AP endonuclease
In BER, it removes one or more nucleotides from the abasic strand, resulting in a gap.
XP
disorder that cannot repair DNA damage caused by UV light
Dam
a DNA methylase that gradually finds all the new GATC sites, and methylates the ‘A’ site so that mismatch repair can differentiate between the parent and daughter strands.
Translesion Synthesis
allowing replication to bypass a stalled fork
pol IV and pol V
can bypass thymine dimers or abasic sites, generally by incorporating random bases to allow Translesion Synthesis
POLH
human translesion polymerase that can actually polymerize two A's across from a thymine dimer.
homologous recombination
the swapping of DNA between homologous chromosomes
homologous chromosomes
chromosomes that are either identical or nearly identical
DSB
Double-strand break
replication fork collapse
occurs when a fork encounters a nick in the template DNA
RecBCD complex
consists of three polypeptides: RecB, RecC, and RecD. Together, they have both 5’-3’ and 3’-5’ exonuclease activities. So they chew up both DNA strands from one end. However, when the complex reaches the sequence GCTGGTGG (a chi site, which occurs far more often than you would expect by random chance in E. coli), the 5’-3’ exo activity is enhanced, resulting in the 3’ extension that is critical for strand invasion.
chi site
the sequence GCTGGTGG that triggers RecBCD to speed up 5’-3’ exo activity is enhanced, resulting in the 3’ extension that is critical for strand invasion.
RecA
binds to ssDNA, and scans it across dsDNA until it detects homology. RecA then catalyzes strand exchange
strand exchange
means it displaces one strand of a double helix and replaces it with the ssDNA
RuvABC
RuvA is a Holliday junction binding protein. RuvA/RuvB complex drives branch migration
RuvC is a Holliday junction resolvase
Rad51 and Dmc1
are RecA-like proteins active during eukaryotic meiosis
MRX complex
is functionally similar to the RecBCD complex active during eukaryotic meiosis
Spo11
during eukaryotic meiosis Spo11 binds to DNA and makes
a double-strand break
Site-specific recombination
process whereby a single enzyme (or a team of enzymes) catalyzes crossovers at very specific sites
Cre
Site-specific recombinase enzyme which catalyzes recombination between two sites known as loxP sites.
RAG1 and RAG2
catalyze the joining of V/D/J segments
Non-homologous end-joining (NHEJ)
factors that ligate the V and J segments
activation-induced cytidine deaminase (AID
a specialized protein that selectively mutates the V/D/J region
Barbara McClintock
she developed the technique for visualizing maize chromosomes and used microscopic analysis to demonstrate many fundamental genetic ideas, including genetic recombination by crossing-over during meiosis
DDE Transposases
Transposases that require aspartate (D) and glutamate (E) residues for their catalytic actvity
nonautonomous
mutated copy of transposon that relies on other for rep.
composite transposition
two transposons that usually flank genes
replicative transposition
create cointegrate, replicate selves, then recombination to resolve cointegrate
retro transposition
replicative transposons that copy themselves by transcription and reverse transcription, followed by integration in to target DNA
non-LTR retrotransposons
and target-primed reverse transcription (TPRT)
replicates by being transcribed, inserted, reverse transcribed, then replicated
Forward Genetics
cause random mutation, look for cool mutants, find gene responsible
Reverse Genetics
take gene of interest, knock it out, see what mutation results