Germline selection shapes human mitochondrial DNA diversity

异质性线粒体DNA 生物遗传学基因组人类线粒体遗传学人口进化生物学遗传多样性线粒体dna控制区生殖系选择（遗传算法）基因单倍型等位基因人口学人工智能社会学计算机科学

作者

Wei Wei,Salih Tuna,Michael J. Keogh,Katherine R. Smith,Timothy J. Aitman,Phil L. Beales,David Bennett,Daniel P. Gale,Maria Bitner‐Glindzicz,Graeme C. Black,Paul Brennan,Perry Elliott,Frances 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 G. C. Smith,Jenny C. Taylor,Hugh Watkins,Andrew R. Webster,Andrew O.M. Wilkie,Catherine Williamson,Sofie Ashford,Christopher J. Penkett,Kathleen Stirrups,Augusto Rendon,Willem H. Ouwehand,John R. Bradley,F. Lucy Raymond,Mark J. Caulfield,Ernest Turro,Patrick F. Chinnery,Aarnoud Huissoon,Abigail Crisp-Hihn,Adam Shaw,Adam J. Mead,Adam P. Levine,Adrian J. Thrasher,Agnieszka Bierżyńska,Ahamad Hassan,Ajith Kumar,Alba Sanchis‐Juan,Alex Richter,Allan Lawrie,Amy Frary,Andrea H. Németh,Andrea Olschewski,Andreas C. Themistocleous,Andrew C. Browning,Andrew Mumford,Andrew M. Schaefer,Andrew Marshall,Andrew O.M. Wilkie,Andrew Peacock,Andrew R. Harper,Andrew R. Webster,Andrew S.C. Rice,Angela Pyle,Ania Koziell,Anna M. Drazyk,Anne M. Kelly,Annette Wagner,Anthony Attwood,Anthony De Soyza,Anthony M. Vandersteen,Anthony T. Moore,Anton Vonk Noordegraaf,Anupama Rao,Archana Herwadkar,Arjan C. Houweling,Arjune Sen,Augusto Rendon,Austen Worth,Barbara Girerd,Bella Madan,Brian T. Wilson,Carmen Bugarin Diz,Carmen Treacy,Carole Brewer,Carolyn Campbell,Carolyn M. Millar,Catherine Roughley,Catherine Titterton,Catherine Williamson,Cecilia Compton,Cesare Danesino,Chantal Thys,Charaka Hadinnapola,Charu Deshpande,Cheng‐Hock Toh,Chris Van Geet,Christian Babbs,C. Geoffrey Woods,Christopher J. Penkett,Christopher D. Watt,Claire Harris,Claire Lentaigne,Claire Palles,Claire Searle,Clarissa Pilkington,Colin Church,Courtney E. French,Crina Samarghitean,D. Mark Layton,D. Gareth Evans,Damian Smedley,Daniel Greene,Daniel J. Hart,Daniel P. Gale,David G. Kiely,David Gosal,David Allsup,David Bennett,David Montani,David Parry,David Thomas,Deborah Ruddy,Deborah Whitehorn,Detelina Grozeva,Detlef Böckenhauer,Dinakantha Kumararatne,Dragana Josifova,Eamonn R. Maher,Edwin K.S. Wong,Eleanor Dewhurst,Eleni Louka,Elizabeth Colby,Elizabeth Ormondroyd,Ellen Thomas,Emilia M. Swietlik,Emily Staples,Emma Matthews,Emma R. Woodward,Ernest Turro,Eshika Haque,F. Lucy Raymond,Fengyuan Hu,Fiona Lalloo,Florent Soubrier,Floria Cheng,Frances Flinter,Gábor Kovács,Gavin Arno,Gavin Hudson,Genevieve Sayer,Gerald Carr‐White,Gerry Coghlan,Gillian Evans,Graeme C. Black,Grant Hayman,H. Terence Cook,Hana Alachkar,Hana Lango Allen,Hanadi Kazkaz,Hannah Stark,Hanns–Ulrich Marschall,Harm Jan Bogaard,Heather Maxwell,Helen Baxendale,Helen Hanson,Henning Gall,Henry Houlden,Hilary Longhurst,Hiva Fassihi,Horst Olschewski,Hossein A. Ghofrani,Hugh S. Markus,Hugh Watkins,Ian Tomlinson,Ilenia Simeoni,Irene Roberts,David Edgar,J. Simon R. Gibbs,James E. Thaventhiran,James Fox,James S. Ware,James W. Whitworth,Janine Collins,Jay Suntharalingam,Jennifer Jolley,Jennifer M. Martin,Jennifer O’Sullivan,Jenny C. Taylor,Jenny Chambers,Jesmeen Maimaris,Jill Clayton‐Smith,Joanna Pepke‐Żaba,Jodie Graham,John A. Sayer,John‐Paul Westwood,John Burn,John Davis,John Wharton,John Taylor,Jonathan Hoffman,Jonathan Stephens,Julian Adlard,Julie von Ziegenweidt,Julie Wessels,Kai Ren Ong,Karen L. Edwards,Kate Downes,Kate Gibson,Kate Talks,Kate Thomson,Kathelijne Peerlinck,Katherine R. Smith,Katherine P. Yates,Kathleen Stirrups,Kathleen Freson,Katie Snape,Keith Gomez,Keith Sibson,Keith W. Muir,Ken Poole,Kenneth G. C. Smith,Keren Carss,Kevin J. Marchbank,Kimberly Gilmour,Kirsty Harkness,Lara Abulhoul,Laura Scelsi,Leema Robert,Lorena Lorenzo,Louise Izatt,Lucy Side,Lucy R. Wedderburn,Luke Howard,Lynn Greenhalgh,Manali Chitre,Manju A. Kurian,Marc Humbert,Marc Tischkowitz,Maria Bitner‐Glindzicz,Maria C. Estiú,Marie Erwood,Marie Scully,Mark J. Caulfield,Mark Gurnell,Mark I. McCarthy,Mark Toshner,Marta Bleda,Marta Vazquez‐Lopez,Martin R. Wilkins,Mary Mathias,Matthew A. Brown,Matthew C. Sims,Matthew Hall,Matthew J. Daniels,Matthew Buckland,Matthew Traylor,Matthias Haimel,Maureen Cleary,Mehul Dattani,Mélanie Eyries,Melanie M. Y. Chan,Melanie N. Ekani,Melita Irving,Michael Laffan,Michael Gattens,Michael J. Browning,Michael Newnham,Michael A. Simpson,Michael Wright,Michel Michaelides,Michele P. Lambert,Moin A. Saleem,Moira Thomas,Monika Mozere,Munaza Ahmed,Naomi Clements Brod,Nathalie Kingston,Neil V. Shah,Neringa Jurkutė,Nichola Cooper,Nicholas W. Morrell,Nicola Curry,Nigel Burrows,Nils Koelling,Noémi Roy,Olga Shamardina,Olivera Spasić-Bošković,Omid Sadeghi‐Alavijeh,Paolo Gresele,Patrick F. Chinnery,Patrick Yong,Patrick Yu‐Wai‐Man,Paul Lyons,Paul Aurora,Paul Brennan,Paul A. Corris,Paul McAlinden,Paula Rayner-Matthews,Pavels Gordins,Perry Elliott,Peter Dixon,Peter Kelleher,Peter W. Collins,Petros Syrris,Phil L. Beales,Philip Ancliff,Philip G. Griffiths,Philip Twiss,Ping Yu,Quinten Waisfisz,R. Andres Floto,R. Campbell Tait,Rachel Buchan,Rachel Linger,Rashid Kazmi,Ravishankar Sargur,Rémi Favier,Rhea Y. Y. Tan,Richard Antrobus,Richard Quinton,Richard H. Scott,Richard C. Trembath,Rita Horváth,Robert N. Sarkany,Robert Ross‐Russell,Robert V. MacKenzie Ross,Robin Condliffe,Roger James,Rosie Hague,Rutendo Mapeta,Ruth Armstrong,Ruth Casey,Sadia Noorani,Salih Tuna,Sally Johnson,Samantha Malka,Samya Obaji,Sara Boyce,Sarah Goddard,Sarah J. Rose,Sarah K. Westbury,Sarah Mangles,Sarju Mehta,Scott Hackett,Shahin Moledina,Shamima Rahman,Shehla Mohammed,Siddharth Banka,Simon Holden,Simon H. S. Pearce,Simon C. Satchell,Simon Staines,Sinisa Savic,Smita Y. Patel,Sofia Douzgou,Sofia Grigoriadou,Sofia Papadia,Sofie Ashford,Sol Schulman,Soo‐Mi Park,Sri V. V. Deevi,Stefan Ting Graf,Stephen Abbs,Stephen J. Wort,Stephen Jolles,Stephen D. Marks,Steven Okoli,Stuart A. Cook,Stuart Meacham,Suellen M. Walker,Susan Shapiro,Suthesh Sivapalaratnam,Taco W. Kuijpers,Tadbir K. Bariana,Tamam Bakchoul,Tamara Everington,Tara Renton,Teofila Bueser,Timothy Dent,Timothy J. Aitman,Tina Biss,Tina Dutt,Tom Fowler,Tom Vale,Tracy Lester,Trevor Cole,Vijeya Ganesan,William A. Sewell,Wei Wei,Wendy N. Erber,Werner Seeger,Wilf Kelsall,Willem H. Ouwehand,William Egner,William G. Newman,William M. Hague,Yvette Wood

出处

期刊：Science [American Association for the Advancement of Science (AAAS)]
日期：2019-05-23 卷期号：364 (6442) 被引量：199

链接

ac.uk ac.uk handle.net ac.uk ac.uk ac.uk ac.uk ac.uk ac.uk nih.govdoi.org

标识

DOI：10.1126/science.aau6520

摘要

Heteroplasmy incidence in mitochondrial DNA In humans, mitochondrial DNA (mtDNA) is predominantly maternally inherited. mtDNA is under selection to prevent heteroplasmy—the transmission of multiple genetic variants into the next generation. Wei et al. explored human mtDNA sequences to determine mtDNA genome structure, selection, and transmission. Whole-genome sequencing revealed that about 45% of individuals carry heteroplasmic mtDNA sequences at levels greater than 1% of their total mtDNA. Furthermore, studies of more than 1500 mother-offspring pairs indicated that the female line selected which mtDNA variants were passed on to children. This effect was influenced by the mother's nuclear genetic background. Thus, mtDNA is under selection at specific loci in the human germ line. Science , this issue p. eaau6520

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Germline selection shapes human mitochondrial DNA diversity

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