Lecture 10 - Instability of Human Genome Flashcards
Mutations change the base in a segment of DNA; _________ dimers distort the DNA helix.
Thymine
O6-methylguanine-DNA methyltransferase removes a methyl group from guanine residues that would otherwise permit the base pairing of guanine with _______. O6-methylguanine-DNA methyltransferase does not hydrolyze __________ bonds in catalyzing the removal of the guanine methyl group.
Thymine
Phosphodiester
Global Genome Repair (GGR) removes DNA damage that represents a __________ in the helix. GGR involves many proteins that are defective in xeroderma pigmentosum. Transcription coupled repair involves two proteins that are defective in Cockayne’s syndrome.
Distortion
Both GGR and _______ involve a protein that also functions in transcription, termed TFIIH and several proteins that function in DNA replication, such as the clamp loader, termed RPC and the clamp, termed PCNA.
TCR
In the first step of Base Excision Repair (BER), a nucleotide removes a base, without hydrolyzing any phosphodiester bonds.
DNA glycosylase
____________ is closely associated with DNA replication. Several proteins involved in MMR are defective in a hereditary form of _____________ cancer.
MMR
Colon
In recombination repair, a gap that forms during replication is filled by recombining a short segment of DNA, from a parental strand of DNA, with the new strand. The gap created in the parental strand is then filled by using the correct version of the newly synthesized DNA as a template. ___________, which is defective in a certain form of hereditary breast cancer, is required for recombination repair.
BRCA2
When DNA repair fails, the cell can invoke ___________ pathways that result in cell death. If such checkpoint pathways fail, the cell can accumulate mutations that may eventually be tumorigenic.
Checkpoint