Biology 3594A Study Guide - Final Guide: Germline Mutation, Angiogenesis, Metastasis
13 May 2018
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Lecture 10 Flashcards
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Mutator phenotype
If a mutatorphenotype exists, the phenotype would show
significantly higher rates ofmutations than expected of
spontaneous mutations.
- mutationsthat occur in the progression that cause a new
rate of cell division/growthwith more and more mutation
- elevated mutation frequency
- could lead to cancer because increased mutations means
cells could change their properties: metastases, no apoptosis,
angiogenesis (recruit blood supply)
Features of a mutator phenotype (7)
1. Highmutation frequency
- 10-5 to10-3rather than 10-6 to 10-7
2. Highmutation frequency with every cell cycle
3. Canbe due to a germline mutation in a DNA repair gene =
Heritable
4. Resultsin many independent mutations
5. Elevatedfrequency of multiple mutations that
arerandomly-spaced and independent in origin arising in
different cell cycles
- average spacing across the genome, no clustering and no
deserts
6. Resultsin Point mutationINstability(PIN)
7. CNVmutations - the novel finding in this paper
Copy Number Variants, and types
Extensive structural variation across the genome
Gains and losses of the genome sequence
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Document Summary
If a mutatorphenotype exists, the phenotype would show significantly higher rates ofmutations than expected of spontaneous mutations. Mutationsthat occur in the progression that cause a new rate of cell division/growthwith more and more mutation. Could lead to cancer because increased mutations means cells could change their properties: metastases, no apoptosis, angiogenesis (recruit blood supply: highmutation frequency. 10-5 to10-3rather than 10-6 to 10-7: highmutation frequency with every cell cycle, canbe due to a germline mutation in a dna repair gene = Heritable: resultsin many independent mutations, elevatedfrequency of multiple mutations that arerandomly-spaced and independent in origin arising in different cell cycles. Average spacing across the genome, no clustering and no deserts: resultsin point mutationinstability(pin, cnvmutations - the novel finding in this paper. Insertions of new sequence: increasegenetic diversity, canalter phenotype, canincrease fitness, cancause disease. What copy number variants can do for the host (4) Copynumber state of dna segments is compared between sample and reference.
