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Germline selection shapes human mitochondrial DNA diversity
Authors
Wei Wei,Salih Tuna
Michael Keogh,Katherine Smith,Timothy Aitman,Phil Beales,David Bennett,Daniel Gale,Maria Bitner‐Glindzicz,Graeme Black,Paul Brennan,Perry Elliott,Frances Flinter,R. Floto,Henry Houlden,Melita Irving,Ania Koziell,Eamonn Maher,Hugh Markus,Nicholas Morrell,William Newman,Irene Roberts,John Sayer,Kenneth Smith,Jenny Taylor,Hugh Watkins,Andrew Webster,Andrew Wilkie,Catherine Williamson,Sofie Ashford,Christopher Penkett,Kathleen Stirrups,Augusto Rendon,Willem Ouwehand,John Bradley,F. Raymond,Mark Caulfield,Ernest Turro,Patrick Chinnery,Aarnoud Huissoon,Abigail Crisp-Hihn,Adam Shaw,Adam Mead,Adam Levine,Adrian Thrasher,Agnieszka Bierżyńska,Ahamad Hassan,Ajith Kumar,Alba Sanchis‐Juan,Alex Richter,Allan Lawrie,Amy Frary,Andrea Németh,Andrea Olschewski,Andreas Themistocleous,Andrew Browning,Andrew Mumford,Andrew Schaefer,Andrew Marshall,Andrew Peacock,Andrew Harper,Andrew Rice,Angela Pyle,Anna Drazyk,Anne Kelly,Annette Wagner,Anthony Attwood,Anthony Soyza,Anthony Vandersteen,Anthony Moore,Anton Noordegraaf,Anupama Rao,Archana Herwadkar,Arjan Houweling,Arjune Sen,Austen Worth,Barbara Girerd,Bella Madan,Brian Wilson,Carmen Diz,Carmen Treacy,Carole Brewer,Carolyn Campbell,Carolyn Millar,Catherine Roughley,Catherine Titterton,Cecilia Compton,Cesare Danesino,Chantal Thys,Charaka Hadinnapola,Charu Deshpande,Cheng‐Hock Toh,Chris Geet,Christian Babbs,C. Woods,Christopher Watt,Claire Harris,Claire Lentaigne,Claire Palles,Claire Searle,Clarissa Pilkington,Colin Church,Courtney French,Crina Samarghitean,D. Layton,D. Evans,Damian Smedley,Daniel Greene,Daniel Hart,David Kiely,David Gosal,David Allsup,David Montani,David Parry,David Thomas,Deborah Ruddy,Deborah Whitehorn,Detelina Grozeva,Detlef Böckenhauer,Dinakantha Kumararatne,Dragana Josifova,Edwin Wong,Eleanor Dewhurst,Eleni Louka,Elizabeth Colby,Elizabeth Ormondroyd,Ellen Thomas,Emilia Swietlik,Emily Staples,Emma Matthews,Emma Woodward,Eshika Haque,Fengyuan Hu,Fiona Lalloo,Florent Soubrier,Floria Cheng,Gábor Kovács,Gavin Arno,Gavin Hudson,Genevieve Sayer,Gerald Carr‐White,Gerry Coghlan,Gillian Evans,Grant Hayman,H. Cook,Hana Alachkar,Hana Allen,Hanadi Kazkaz,Hannah Stark,Hanns‐Ulrich Marschall,Harm Bogaard,Heather Maxwell,Helen Baxendale,Helen Hanson,Henning Gall,Hilary Longhurst,Hiva Fassihi,Horst Olschewski,Hossein Ghofrani,Ian Tomlinson,Ilenia Simeoni,David Edgar,J. Gibbs,James Thaventhiran,James Fox,James Ware,James Whitworth,Janine Collins,Jay Suntharalingam,Jennifer Jolley,Jennifer Martin,Jennifer O’Sullivan,Jenny Chambers,Jesmeen Maimaris,Jill Clayton‐Smith,Joanna Pepke‐Żaba,Jodie Graham,John‐Paul Westwood,John Burn,John Davis,John Wharton,John Taylor,Jonathan Hoffman,Jonathan Stephens,Julian Adlard,Julie Ziegenweidt,Julie Wessels,Kai Ong,Karen Edwards,Kate Downes,Kate Gibson,Kate Talks,Kate Thomson,Kathelijne Peerlinck,Katherine Yates,Kathleen Freson,Katie Snape,Keith Gomez,Keith Sibson,Keith Muir,Ken Poole,Keren Carss,Kevin Marchbank,Kimberly Gilmour,Kirsty Harkness,Lara Abulhoul,Laura Scelsi,Leema Robert,Lorena Lorenzo,Louise Izatt,Lucy Side,Lucy Wedderburn,Luke Howard,Lynn Greenhalgh,Manali Chitre,Manju Kurian,Marc Humbert,Marc Tischkowitz,Maria Estiú,Marie Erwood,Marie Scully,Mark Gurnell,Mark McCarthy,Mark Toshner,Marta Bleda,Marta Vazquez‐Lopez,Martin Wilkins,Mary Mathias,Matthew Brown,Matthew Sims,Matthew Hall,Matthew Daniels,Matthew Buckland,Matthew Traylor,Matthias Haimel,Maureen Cleary,Mehul Dattani,Mélanie Eyries,Melanie Chan,Melanie Ekani,Michael Laffan,Michael Gattens,Michael Browning,Michael Newnham,Michael Simpson,Michael Wright,Michel Michaelides,Michele Lambert,Moin Saleem,Moira Thomas,Monika Mozere,Munaza Ahmed,Naomi Brod,Nathalie Kingston,Neil Shah,Neringa Jurkutė,Nichola Cooper,Nicola Curry,Nigel Burrows,Nils Koelling,Noémi Roy,Olga Shamardina,Olivera Spasić-Bošković,Omid Sadeghi‐Alavijeh,Paolo Gresele,Patrick Yong,Patrick Yu‐Wai‐Man,Paul Lyons,Paul Aurora,Paul Corris,Paul McAlinden,Paula Rayner-Matthews,Pavels Gordins,Peter Dixon,Peter Kelleher,Peter Collins,Petros Syrris,Philip Ancliff,Philip Griffiths,Philip Twiss,Ping Yu,Quinten Waisfisz,R. Tait,Rachel Buchan,Rachel Linger,Rashid Kazmi,Ravishankar Sargur,Rémi Favier,Rhea Tan,Richard Antrobus,Richard Quinton,Richard Scott,Richard Trembath,Rita Horváth,Robert Sarkany,Robert Ross‐Russell,Robert Ross,Robin Condliffe,Roger James,Rosie Hague,Rutendo Mapeta,Ruth Armstrong,Ruth Casey,Sadia Noorani,Sally Johnson,Samantha Malka,Samya Obaji,Sara Boyce,Sarah Goddard,Sarah Rose,Sarah Westbury,Sarah Mangles,Sarju Mehta,Scott Hackett,Shahin Moledina,Shamima Rahman,Shehla Mohammed,Siddharth Banka,Simon Holden,Simon Pearce,Simon Satchell,Simon Staines,Sinisa Savic,Smita Patel,Sofia Douzgou,Sofia Grigoriadou,Sofia Papadia,Sol Schulman,Soo‐Mi Park,Sri Deevi,Stefan Graf,Stephen Abbs,Stephen Wort,Stephen Jolles,Stephen Marks,Steven Okoli,Stuart Cook,Stuart Meacham,Suellen Walker,Susan Shapiro,Suthesh Sivapalaratnam,Taco Kuijpers,Tadbir Bariana,Tamam Bakchoul,Tamara Everington,Tara Renton,Teofila Bueser,Timothy Dent,Tina Biss,Tina Dutt,Tom Fowler,Tom Vale,Tracy Lester,Trevor Cole,Vijeya Ganesan,William Sewell,Wendy Erber,Werner Seeger,Wilf Kelsall,William Egner,William Hague,Yvette Wood,Ita O’Kelly
+361 authors
,Anton Vonk‐NoordegraafJournal
Published
May 23, 2019
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Abstract
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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