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