Lecture 11 Flashcards
What are the principle lesions that lead to chromosomal aberrations?
Double strand breaks
Where are sister chromatids held together?
Centromere
What effector do DSBs activate that then guide the cell towards either senescence or apoptosis?
p53
What is nondisjunction?
When members of a chromosome pair fail to separate during anaphase of meiosis
What does nondisjunction result in?
Gametes with an incorrect number of chromosomes
What is chromothripsis?
Shattering of the chromosome into thousands of pieces
What causes chromothripsis?
Massive double strand breaks, followed by rearrangements, reassembly, and fusion
Chromothripsis is commonly associated with what two disorders?
Fanconi anaemia and colorectal cancer
What is a pericentric inversion?
A single chromosome with two breaks swaps the location of its two fragments
What is a paracentric aberration?
Both points of exchange lie on same side of centromere
What are interchanges?
Exchange of two sister chromatids between separate chromosomes
What is the Philadelphia Chromosome?
Mutated chromosome due to translocation between chromosomes 9 and 22
What condition does the Philadelphia Chromosome cause?
Chronic myelogenous leukemia (CML)
What chromosome aberration causes Burkitt Lymphoma?
Translocation between chromosomes 8 and 14
What does the translocation between chromosomes 8 and 14 cause?
Translocation of MYC oncogene from chromosome 8 to the heavily expressed heavy chain IG gene region of chromosome 14
What are epigenetics?
Heritable non-genetic modifications
What are CpG islands?
Repeats of C and G where methylation control occurs
Relative to the gene, where are CpG islands typically found?
Close to the start of the promoter