Suppr超能文献

突变率与生殖系结构的进化

Mutation rates and the evolution of germline structure.

作者信息

Scally Aylwyn

机构信息

Department of Genetics, University of Cambridge, Cambridge CB2 3EH, UK

出版信息

Philos Trans R Soc Lond B Biol Sci. 2016 Jul 19;371(1699). doi: 10.1098/rstb.2015.0137.

Abstract

Genome sequencing studies of de novo mutations in humans have revealed surprising incongruities in 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 long-standing 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.This article is part of the themed issue 'Dating species divergences using rocks and clocks'.

摘要

对人类新生突变的基因组测序研究揭示了我们在人类生殖系突变理解上惊人的不一致。特别是,现代人类中观察到的突变率远低于根据化石记录校准估计的突变率,并且传递给后代的突变中的父系年龄效应比我们长期以来的精子发生模型预期的要弱得多。我考虑了这些差异的可能解释,包括诸如世代时间和青春期年龄等生活史参数的进化变化、胚胎发育早期未检测到的合子后突变的可能贡献,以及生殖系不同阶段细胞突变过程的变化。我提出了一个精子发生过程中干细胞状态转变的修订模型,其中“暗”生殖干细胞比迄今设想的发挥更积极的作用,其长周期时间在实验观察中未被检测到。更普遍地说,我认为突变率及其进化与人类和其他灵长类动物生殖系的结构密切相关。本文是主题为“利用岩石和时钟确定物种分歧时间”的特刊的一部分。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6bd8/4920338/60353153e6c1/rstb20150137-g1.jpg

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验