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Publication Date: 2016

Journal Title: Philosophical Transactions of the Royal Society B: Biological Sciences

Publisher: Royal Society Publishing

Volume: 371

Issue: 1699

Pages: 1-10

Language: English

Type: Article

This Version: VoR

Metadata: Show full item record

Citation: Scally, A. (2016). Mutation rates and the evolution of germline structure. Philosophical Transactions of the Royal Society B: Biological Sciences, 371 (1699), 1-10.

Description: This is the author accepted manuscript. It is currently under an indefinite embargo pending publication by Royal Society Publishing.

Abstract: Genome sequencing studies of de novo mutations in humans have revealed surprising incongruities with our understanding of human germline mutation. In particular, the mutation rate observed in modern humans is substantially lower than that estimated from calibration against the fossil record, and the paternal age effect in mutations transmitted to offspring is much weaker than expected from our longstanding model of spermatogenesis. I consider possible explanations for these discrepancies, including evolutionary changes in life history parameters such as generation time and the age of puberty, a possible contribution from undetected post-zygotic mutations early in embryo development, and changes in cellular mutation processes at different stages of the germline. I suggest a revised model of stem cell state transitions during spermatogenesis, in which ‘dark’ gonial stem cells play a more active role than hitherto envisaged, with a long cycle time undetected in experimental observations. More generally I argue that the mutation rate and its evolution depend intimately on the structure of the germline in humans and other primates.

Keywords: germline, mutation rate, human evolution

Sponsorship: I am grateful for support from an Isaac Newton Trust/ Wellcome Trust ISSF Joint Research Grant.

Embargo Lift Date: 2100-01-01

Identifiers:

This record's URL: https://www.repository.cam.ac.uk/handle/1810/256021

Rights: Attribution 4.0 International (CC BY 4.0)

Licence URL: https://creativecommons.org/licenses/by/4.0/





Author: Scally, Aylwyn

Source: https://www.repository.cam.ac.uk/handle/1810/256021



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