The Evolutionary Interplay of Somatic and Germline Mutation Rates

被引:2
作者
Beichman, Annabel C. [1 ]
Zhu, Luke [2 ]
Harris, Kelley [1 ,3 ]
机构
[1] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA
[2] Univ Washington, Dept Bioengn, Seattle, WA USA
[3] Fred Hutchinson Canc Ctr, Computat Biol Div, Seattle, WA 98109 USA
基金
美国国家卫生研究院;
关键词
germline mutation; somatic mutation; drift-barrier hypothesis; mutator; allele; Peto's paradox; aging; effective population size; DE-NOVO MUTATIONS; DNA-DAMAGE; BODY-SIZE; POPULATION-SIZE; NEUTRAL THEORY; GENETIC DRIFT; LIFE-SPAN; CANCER; GENOME; MECHANISMS;
D O I
10.1146/annurev-biodatasci-102523-104225
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
Novel sequencing technologies are making it increasingly possible to measure the mutation rates of somatic cell lineages. Accurate germline mutation rate measurement technologies have also been available for a decade, making it possible to assess how this fundamental evolutionary parameter varies across the tree of life. Here, we review some classical theories about germline and somatic mutation rate evolution that were formulated using principles of population genetics and the biology of aging and cancer. We find that somatic mutation rate measurements, while still limited in phylogenetic diversity, seem consistent with the theory that selection to preserve the soma is proportional to life span. However, germline and somatic theories make conflicting predictions regarding which species should have the most accurate DNA repair. Resolving this conflict will require carefully measuring how mutation rates scale with time and cell division and achieving a better understanding of mutation rate pleiotropy among cell types.
引用
收藏
页码:83 / 105
页数:23
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[41]   Germline mutation rates and fine-scale recombination parameters in zebra finch [J].
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[42]   THE SOMATIC MUTATION THEORY OF AGING [J].
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[43]   Properties and rates of germline mutations in humans [J].
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[44]   Germline and Somatic mutations in postmenopausal breast cancer patients [J].
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[45]   Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers [J].
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[46]   Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation [J].
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[49]   Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation [J].
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Marsh, DJ ;
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Cuong, HV ;
Raue, F ;
Hinze, R ;
Dralle, H ;
Eng, C .
ONCOGENE, 1999, 18 (06) :1369-1373
[50]   Single genome retrieval of context-dependent variability in mutation rates for human germline [J].
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