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Nat Genet. 2011 Jun 12;43(7):712-4. doi: 10.1038/ng.862.

Variation in genome-wide mutation rates within and between human families.

Collaborators (553)

Altshuler D, Durbin RM, Abecasis GR, Bentley DR, Chakravarti A, Clark AG, Collins FS, De La Vega FM, Donnelly P, Egholm M, Flicek P, Gabriel SB, Gibbs RA, Knoppers BM, Lander ES, Lehrach H, Mardis ER, McVean GA, Nickerson DA, Peltonen L, Schafer AJ, Sherry ST, Wang J, Wilson RK, Gibbs RA, Deiros D, Metzker M, Muzny D, Reid J, Wheeler D, Wang J, Li J, Jian M, Li G, Li R, Liang H, Tian G, Wang B, Wang J, Wang W, Yang H, Zhang X, Zheng H, Lander ES, Altshuler D, Ambrogio L, Bloom T, Cibulskis K, Fennell TJ, Gabriel SB, Jaffee DB, Shelfler E, Sougnez CL, Bentley DR, Gormley N, Humphray S, Kingsbury Z, Kokko-Gonzales P, Stone J, McKernan KJ, Costa GL, Ichikawa JK, Lee CC, Sudbrak R, Lehrach H, Borodina T, Dahl A, Davydov AN, Marquardt P, Mertes F, Nietfeld W, Rosenstiel P, Schreiber S, Soldatov AV, Timmermann B, Tolzmann M, Egholm M, Affourit J, Ashworth D, Attiya S, Bachorski M, Buglione E, Burke A, Caprio A, Celone C, Clark S, Conners D, Desany B, Gu L, Guccione L, Kao K, Kebbel A, Knowlton J, Labrecque M, McDade L, Mealmaker C, Minderman M, Nawrocki A, Niazi F, Pareja K, Ramenani R, Riches D, Song W, Turcotte C, Wang S, Mardis ER, Wilson RK, Dooling D, Fulton L, Fulton R, Weinstock G, Durbin RM, Burton J, Carter DM, Churcher C, Coffey A, Cox A, Palotie A, Quail M, Skelly T, Stalker J, Swerdlow HP, Turner D, De Witte A, Giles S, Gibbs RA, Wheeler D, Bainbridge M, Challis D, Sabo A, Yu F, Yu J, Wang J, Fang X, Guo X, Li R, Li Y, Luo R, Tai S, Wu H, Zheng H, Zheng X, Zhou Y, Li G, Wang J, Yang H, Marth GT, Garrison EP, Huang W, Indap A, Kural D, Lee WP, Leong WF, Quinlan AR, Stewart C, Stromberg MP, Ward AN, Wu J, Lee C, Mills RE, Shi X, Daly MJ, DePristo MA, Altshuler D, Ball AD, Banks E, Bloom T, Browning BL, Cibulskis K, Fennell TJ, Garimella KV, Grossman SR, Handsaker RE, Hanna M, Harti C, Jaffe DB, Kernytsky AM, Korn JM, Li H, Maguire JR, McCarroll SA, McKenna A, Nemesh JC, Phillippakis AA, Poplin RE, Price A, Rivas MA, Sabeti P, Schaffner S, Shefler E, Shlyakhter IA, Cooper DN, Ball EV, Mort M, Phillips AD, Stenson PD, Sebat J, Makarov V, Ye K, Yoon SC, Bustamante CD, Clark AG, Boyko A, Degenhardt J, Gravel S, Gutenkunst RN, Kaganovich M, Keinan A, Lacroute P, Reynolds A, Clarke L, Flicek P, Cunningham F, Herrero J, Keenen S, Kulesha E, Leinonen R, McLaren WM, Radhakrishnan R, Smith RE, Zalunin V, Zheng-Bradley X, Korbel JO, Stütz AM, Humphray S, Bauer M, Cheetham RK, Cox T, Eberle M, James T, Kahn S, Murray L, Chakravarti A, Ye K, De Le Vega FM, Fu Y, Hyland FC, Manning JM, McLaughlin SF, Peckham HE, Sakarya O, Sun YA, Tsung EF, Batzer MA, Konkel MK, Walker JA, Sudbrak R, Albrecht MW, Amstislavskiy VS, Herwig R, Parkhomchuk DV, Sherry ST, Agarwala R, Khouri HM, Morgulis AO, Paschall JE, Phan LD, Rotmistrovsky KE, Sanders RD, Shumway MF, Xiao C, McVean GA, Auton A, Iqbal Z, Lunter G, Marchini JL, Moutsianas L, Myers S, Tumian A, Desany B, Knight J, Winer R, Craig DW, Beckstrom-Sternberg SM, Christoforides A, Kurdoglu AA, Pearson JV, Sinari SA, Tembe WD, Haussler D, Hinrichs AS, Katzman SJ, Kern A, Kuhn RM, Przeworski M, Hernandez RD, Howie B, Kelley JL, Melton SC, Abecasis GR, Li Y, Anderson P, Blackwell T, Chen W, Cookson WO, Ding J, Kang HM, Lathrop M, Liang L, Moffatt MF, Scheet P, Sidore C, Snyder M, Zhan X, Zöllner S, Awadalla P, Cartwright RA, Casals F, Idaghdour Y, Keebler J, Stone EA, Zilversmit M, Jorde L, Xing J, Eichler EE, Aksay G, Alkan C, Hajirasouliha I, Hormozdiari F, Kidd JM, Sahinalp SC, Sudmant PH, Mardis ER, Chen K, Chinwalla A, Ding L, Koboldt DC, McLellan MD, Dooling D, Weinstock G, Wallis JW, Wendl MC, Zhang Q, Durbin RM, Albers CA, Ayub Q, Balasubramaniam S, Barrett JC, Carter DM, Chen Y, Conrad DF, Danecek P, Dermitzakis ET, Hu M, Huang N, Hurles ME, Jin H, Jostins L, Keane TM, Le SQ, Lindsay S, Long Q, MacArthur DG, Montgomery SB, Parts L, Stalker J, Tyler-Smith C, Walter K, Xue Y, Zhang Y, Gerstein MB, Snyder M, Abyzov A, Balasubramanian S, Bjornson R, Du J, Grubert F, Habegger L, Haraksingh R, Jee J, Khurana E, Lam HY, Leng J, Mu XJ, Urban AE, Zhang Z, Li Y, Luo R, Marth GT, Garrison EP, Kural D, Quinlan AR, Stewart C, Stromberg MP, Ward AN, Wu J, Lee C, Mills RE, Shi X, McCarroll SA, Banks E, DePristo MA, Handsaker RE, Hartl C, Korn JM, Li H, Nemesh JC, Sebat J, Makarov V, Ye K, Yoon SC, Degenhardt J, Kaganovich M, Clarke L, Smith RE, Zheng-Bradley X, Korbel JO, Humphray S, Cheetham RK, Eberle M, Kahn S, Murray L, Ye K, De La Vega FM, Fu Y, Peckham HE, Sun YA, Batzer MA, Konkel MK, Walker JA, Xiao C, Iqbal Z, Desany B, Blackwell T, Snyder M, Xing J, Eichler EE, Askay G, Alkan C, Hajirasouliha I, Hormozdiari F, Kidd JM, Chen K, Chinwalla A, Ding L, McLellan MD, Wallis JW, Hurles ME, Conrad DF, Walter K, Zhang Y, Gerstein MB, Snyder M, Abyzov A, Du J, Grubert F, Haraksingh R, Jee J, Khurana E, Lam HY, Leng J, Mu XJ, Urban AE, Zhang Z, Gibbs RA, Bainbridge M, Challis D, Coafra C, Dinh H, Kovar C, Lee S, Muzny D, Nazareth L, Reid J, Sabo A, Yu F, Yu J, Marth T, Garrison EP, Indap A, Leong WF, Quinlan AR, Stewart C, Ward AN, Wu J, Cibulskis K, Fennell TJ, Gabriel SB, Garimella KV, Hartl C, Shefler E, Sougnez CL, Wilkinson J, Clark AG, Gravel S, Grubert F, Clarke L, Flicek P, Smith RE, Zheng-Bradley X, Sherry ST, Khouri HM, Paschall JE, Shumway MF, Xiao C, McVean GA, Katzman SJ, Abecasis GR, Blackwell T, Mardis ER, Dooling D, Fulton L, Fulton R, Koboldt DC, Durbin RM, Balasubramaniam S, Coffey A, Keane TM, MacArthur DG, Palotie A, Scott C, Stalker J, Tyler-Smith C, Gerstein MB, Balasubramanian S, Chakravarti A, Knoppers BM, Peltonen L, Abecasis GR, Bustamante CD, Gharani N, Gibbs RA, Jorde L, Kaye JS, Kent A, Li T, McGuire AL, McVean GA, Ossorio PN, Rotimi CN, Su Y, Toji LH, Tyler-Smith C, Brooks LD, Felsenfeld AL, McEwen JE, Abdallah A, Juenger CR, Clemm NC, Collins FS, Duncanson A, Green ED, Guyer MS, Peterson JL, Schafer AJ, Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA.

Author information

  • 1Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

Abstract

J.B.S. Haldane proposed in 1947 that the male germline may be more mutagenic than the female germline. Diverse studies have supported Haldane's contention of a higher average mutation rate in the male germline in a variety of mammals, including humans. Here we present, to our knowledge, the first direct comparative analysis of male and female germline mutation rates from the complete genome sequences of two parent-offspring trios. Through extensive validation, we identified 49 and 35 germline de novo mutations (DNMs) in two trio offspring, as well as 1,586 non-germline DNMs arising either somatically or in the cell lines from which the DNA was derived. Most strikingly, in one family, we observed that 92% of germline DNMs were from the paternal germline, whereas, in contrast, in the other family, 64% of DNMs were from the maternal germline. These observations suggest considerable variation in mutation rates within and between families.

Comment in

PMID:
21666693
[PubMed - indexed for MEDLINE]
PMCID:
PMC3322360
Free PMC Article

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