22 Questions
What is the error rate of DNA polymerase without proofreading?
1 per 10^5 nucleotides
What is the function of MutS in Mismatch Repair (MMR)?
Scan for mismatches in DNA
What is Microsatellite Instability (MIN) indicative of?
Defective Mismatch Repair
What is the result of germline mutations in genes encoding DNA damage repair/signalling molecules?
Inherited cancer susceptibility
What is the function of Mismatch Repair (MMR) in maintaining genomic stability?
Repairing DNA replication errors and inhibiting recombination
What is the effect of Mismatch Repair (MMR) on DNA biosynthesis?
Improves fidelity by 100-1000 fold
What is the main cause of Germline Instability (GI)?
Defective Homologous Recombination Repair (HDR)
Which type of genomic instability occurs due to defective Homologous Recombination Repair (HDR) and/or chromosome segregation?
Chromosomal Instability (CIN)
What is the role of Mismatch Repair (MMR) in maintaining genomic stability?
Defective MMR leads to Microsatellite Instability (MIN)
Which DNA repair mechanism is responsible for correcting errors at the nucleotide level?
Proofreading
What is the consequence of defective spindle checkpoint in cells?
Cells continue to proliferate with genetic errors
What is the result of Chromothripsis?
Chromosome shattering
What is the error rate of DNA polymerases during replication?
1 per 10^7 nucleotide
Which proteins are involved in Homology-directed Repair (HDR)?
Rad51 and BRCA1
What is the result of single nucleotide and dinucleotide deletions in the TGFBR2 gene?
Frameshift mutations leading to premature termination
What is the role of BRCA1 in DNA repair?
Recognition of dsDNA breaks and recruitment of repair enzymes
What is the consequence of disturbed origin firing in DNA replication?
Impaired DNA replication fork progression
What is the function of the MRN complex in DNA repair?
Recognition of dsDNA breaks
What is the result of inherited BRCA1 and BRCA2 mutations?
Hereditary breast cancer susceptibility
What is the purpose of the spindle checkpoint during mitosis?
Prevention of aneuploidy
What is the consequence of Mismatch Repair (MMR) deficiency?
Microsatellite instability
What is the role of ATM in the DNA damage response?
Signalling of double-stranded DNA breaks
Test your understanding of DNA replication, proofreading mechanisms, and its significance in preventing errors and cancer incidence. Learn about the role of DNA polymerase and its error rate in DNA synthesis.
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