作者
Wei Wei, Salih Tuna, Michael J Keogh, Katherine R Smith, Timothy J Aitman, Phil L Beales, David L Bennett, Daniel P Gale, Maria AK Bitner-Glindzicz, Graeme C Black, Paul Brennan, Perry Elliott, Frances A Flinter, R Andres Floto, Henry Houlden, Melita Irving, Ania Koziell, Eamonn R Maher, Hugh S Markus, Nicholas W Morrell, William G Newman, Irene Roberts, John A Sayer, Kenneth GC Smith, Jenny C Taylor, Hugh Watkins, Andrew R Webster, Andrew OM Wilkie, Catherine Williamson, NIHR BioResource–Rare Diseases, 100,000 Genomes Project–Rare Diseases Pilot, Sofie Ashford, Christopher J Penkett, Kathleen E Stirrups, Augusto Rendon, Willem H Ouwehand, John R Bradley, F Lucy Raymond, Mark Caulfield, Ernest Turro, Patrick F Chinnery
发表日期
2019/5/24
期刊
Science
卷号
364
期号
6442
页码范围
eaau6520
出版商
American Association for the Advancement of Science
简介
INTRODUCTION
Only 2.4% of the 16.5-kb mitochondrial DNA (mtDNA) genome shows homoplasmic variation at >1% frequency in humans. Migration patterns have contributed to geographic differences in the frequency of common genetic variants, but population genetic evidence indicates that selection shapes the evolving mtDNA phylogeny. The mechanism and timing of this process are not clear.
Unlike the nuclear genome, mtDNA is maternally transmitted and there are many copies in each cell. Initially, a new genetic variant affects only a proportion of the mtDNA (heteroplasmy). During female germ cell development, a reduction in the amount of mtDNA per cell causes a “genetic bottleneck,” which leads to rapid segregation of mtDNA molecules and different levels of heteroplasmy between siblings. Although heteroplasmy is primarily governed by random genetic drift, there is evidence of selection occurring …
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W Wei, S Tuna, MJ Keogh, KR Smith, TJ Aitman… - Science, 2019