Germline selection shapes human mitochondrial DNA diversity
Wei W., Tuna S., Keogh MJ., Smith KR., Aitman TJ., Beales PL., Bennett DL., Gale DP., Bitner-Glindzicz MAK., Black GC., Brennan P., Elliott P., Flinter FA., Floto RA., Houlden H., Irving M., Koziell A., Maher ER., Markus HS., Morrell NW., Newman WG., Roberts I., Sayer JA., Smith KGC., Taylor JC., Watkins H., Webster AR., Wilkie AOM., Williamson C., Ashford S., Penkett CJ., Stirrups KE., Rendon A., Ouwehand WH., Bradley JR., Raymond FL., Caulfield M., Turro E., Chinnery PF., Huissoon AP., Crisp-Hihn A., Shaw AC., Mead AJ., Levine AP., Thrasher AJ., Bierzynska A., Hassan A., Kumar A., Sanchis-Juan A., Richter A., Lawrie A., Frary AJ., Nemeth AH., Olschewski A., Themistocleous AC., Browning AC., Mumford AD., Schaefer AM., Marshall A., Wilkie AOM., Peacock A., Harper AR., Webster AR., Rice ASC., Pyle A., Koziell A., Drazyk AM., Kelly AM., Wagner A., Attwood A., De Soyza A., Vandersteen AM., Moore AT., Vonk Noordegraaf A., Rao A., Herwadkar A., Houweling A., Sen A., Rendon A., Worth A., Girerd B., Madan B., Wilson BT., Diz CB., Treacy C., Brewer C., Campbell C., Millar C., Roughley C., Titterton C., Williamson C., Compton CJ., Danesino C., Thys C., Hadinnapola C., Deshpande C., Toh C-H., Van Geet C., Babbs C., Woods CG., Penkett CJ., Watt C., Harris C., Lentaigne C., Palles C., Searle C., Pilkington C., Church C., French CE., Samarghitean C., Layton DM., Evans DG., Smedley D., Greene D., Hart D., Gale DP., Kiely DG., Gosal D., Allsup DJ., Bennett DL., Montani D., Parry D., Thomas D., Ruddy DM., Whitehorn D., Grozeva D., Bockenhauer D., Kumararatne D., Josifova D., Maher ER., Wong EKS., Dewhurst EF., Louka E., Colby E., Ormondroyd E., Thomas E., Swietlik E., Staples E., Matthews E., Woodward E., Turro E., Haque E., Raymond FL., Hu F., Lalloo F., Soubrier F., Cheng F., Flinter FA., Kovacs G., Arno G., Hudson G., Sayer G., Carr-White G., Coghlan G., Evans G., Black GC., Hayman G., Cook HT., Alachkar H., Allen HL., Kazkaz H., Stark H., Marschall H-U., Bogaard H., Maxwell H., Baxendale HE., Hanson HL., Gall H., Houlden H., Longhurst H., Fassihi H., Olschewski H., Ghofrani H-A., Markus HS., Watkins H., Tomlinson IP., Simeoni I., Roberts I., Edgar JDM., Gibbs JSR., Thaventhiran JE., Fox J., Ware JS., Whitworth J., Collins J., Suntharalingam J., Jolley J., Martin J., O’Sullivan J., Taylor JC., Chambers J., Maimaris J., Clayton-Smith J., Pepke-Zaba J., Graham J., Sayer JA., Westwood J-P., Burn J., Davis J., Wharton J., Taylor J., Hoffman J., Stephens J., Adlard J., von Ziegenweidt J., Wessels J., Ong KR., Edwards K., Downes K., Gibson K., Talks K., Thomson K., Peerlinck K., Smith KR., Yates K., Stirrups KE., Freson K., Snape K., Gomez K., Sibson K., Muir KW., Poole KES., Smith KGC., Carss K., Marchbank KJ., Gilmour KC., Harkness K., Abulhoul L., Scelsi L., Robert L., Lorenzo LE., Izatt L., Side L., Wedderburn L., Howard LS., Greenhalgh L., Chitre M., Kurian MA., Humbert M., Tischkowitz M., Bitner-Glindzicz MAK., Estiu MC., Erwood M., Scully M., Caulfield M., Gurnell M., McCarthy MI., Toshner M., Bleda M., Vazquez-Lopez M., Wilkins MR., Mathias M., Brown M., Sims MC., Hall M., Daniels MJ., Buckland MS., Traylor M., Haimel M., Cleary M., Dattani M., Eyries M., Chan MMY., Ekani MN., Irving M., Laffan MA., Gattens M., Browning MJ., Newnham M., Simpson M., Wright M., Michaelides M., Lambert M., Saleem M., Thomas MJ., Mozere M., Ahmed M., Brod NC., Kingston N., Shah N., Jurkute N., Cooper N., Morrell NW., Curry NS., Burrows N., Koelling N., Roy NB., Shamardina O., Spasic-Boskovic O., Sadeghi-Alavijeh O., Gresele P., Chinnery PF., Yong PFK., Yu-Wai-Man P., Lyons PA., Aurora P., Brennan P., Corris P., McAlinden P., Rayner-Matthews PJ., Gordins P., Elliott P., Dixon PH., Kelleher P., Collins PW., Syrris P., Beales PL., Ancliff P., Griffiths P., Twiss P., Yu P., Waisfisz Q., Floto RA., Tait RC., Buchan RJ., Linger R., Kazmi R., Sargur RB., Favier R., Tan RYY., Antrobus R., Quinton R., Scott R., Trembath R., Horvath R., Sarkany RN., Ross-Russell R., MacKenzie Ross RV., Condliffe R., James R., Hague R., Mapeta R., Armstrong R., Casey R., Noorani S., Tuna S., Johnson SA., Malka S., Obaji S., Boyce S., Goddard S., Rose SJ., Westbury SK., Mangles S., Mehta S., Hackett S., Moledina S., Rahman S., Mohammed SN., Banka S., Holden S., Pearce S., Satchell S., Staines S., Savic S., Patel S., Douzgou S., Grigoriadou S., Papadia S., Ashford S., Schulman S., Park S-M., Deevi SVV., Gräf S., Abbs S., Wort SJ., Jolles S., Marks S., Okoli S., Cook S., Meacham S., Walker SM., Shapiro SE., Sivapalaratnam S., Kuijpers TW., Bariana T., Bakchoul T., Everington T., Renton T., Bueser T., Dent T., Aitman TJ., Biss T., Dutt T., Fowler T., Vale T., Lester T., Cole TRP., Ganesan V., Sewell WAC., Wei W., Erber WN., Seeger W., Kelsall W., Ouwehand WH., Egner W., Newman WG., Hague WM., Wood Y.
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