Nature Communications (Jun 2016)

Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome

  • Mitchell J. Machiela,
  • Weiyin Zhou,
  • Eric Karlins,
  • Joshua N. Sampson,
  • Neal D. Freedman,
  • Qi Yang,
  • Belynda Hicks,
  • Casey Dagnall,
  • Christopher Hautman,
  • Kevin B. Jacobs,
  • Christian C. Abnet,
  • Melinda C. Aldrich,
  • Christopher Amos,
  • Laufey T. Amundadottir,
  • Alan A. Arslan,
  • Laura E. Beane-Freeman,
  • Sonja I. Berndt,
  • Amanda Black,
  • William J. Blot,
  • Cathryn H. Bock,
  • Paige M. Bracci,
  • Louise A. Brinton,
  • H Bas Bueno-de-Mesquita,
  • Laurie Burdett,
  • Julie E. Buring,
  • Mary A. Butler,
  • Federico Canzian,
  • Tania Carreón,
  • Kari G. Chaffee,
  • I-Shou Chang,
  • Nilanjan Chatterjee,
  • Chu Chen,
  • Constance Chen,
  • Kexin Chen,
  • Charles C. Chung,
  • Linda S. Cook,
  • Marta Crous Bou,
  • Michael Cullen,
  • Faith G. Davis,
  • Immaculata De Vivo,
  • Ti Ding,
  • Jennifer Doherty,
  • Eric J. Duell,
  • Caroline G. Epstein,
  • Jin-Hu Fan,
  • Jonine D. Figueroa,
  • Joseph F. Fraumeni,
  • Christine M. Friedenreich,
  • Charles S. Fuchs,
  • Steven Gallinger,
  • Yu-Tang Gao,
  • Susan M. Gapstur,
  • Montserrat Garcia-Closas,
  • Mia M. Gaudet,
  • J. Michael Gaziano,
  • Graham G. Giles,
  • Elizabeth M. Gillanders,
  • Edward L. Giovannucci,
  • Lynn Goldin,
  • Alisa M. Goldstein,
  • Christopher A. Haiman,
  • Goran Hallmans,
  • Susan E. Hankinson,
  • Curtis C. Harris,
  • Roger Henriksson,
  • Elizabeth A. Holly,
  • Yun-Chul Hong,
  • Robert N. Hoover,
  • Chao A. Hsiung,
  • Nan Hu,
  • Wei Hu,
  • David J. Hunter,
  • Amy Hutchinson,
  • Mazda Jenab,
  • Christoffer Johansen,
  • Kay-Tee Khaw,
  • Hee Nam Kim,
  • Yeul Hong Kim,
  • Young Tae Kim,
  • Alison P. Klein,
  • Robert Klein,
  • Woon-Puay Koh,
  • Laurence N. Kolonel,
  • Charles Kooperberg,
  • Peter Kraft,
  • Vittorio Krogh,
  • Robert C. Kurtz,
  • Andrea LaCroix,
  • Qing Lan,
  • Maria Teresa Landi,
  • Loic Le Marchand,
  • Donghui Li,
  • Xiaolin Liang,
  • Linda M. Liao,
  • Dongxin Lin,
  • Jianjun Liu,
  • Jolanta Lissowska,
  • Lingeng Lu,
  • Anthony M. Magliocco,
  • Nuria Malats,
  • Keitaro Matsuo,
  • Lorna H. McNeill,
  • Robert R. McWilliams,
  • Beatrice S. Melin,
  • Lisa Mirabello,
  • Lee Moore,
  • Sara H. Olson,
  • Irene Orlow,
  • Jae Yong Park,
  • Ana Patiño-Garcia,
  • Beata Peplonska,
  • Ulrike Peters,
  • Gloria M. Petersen,
  • Loreall Pooler,
  • Jennifer Prescott,
  • Ludmila Prokunina-Olsson,
  • Mark P. Purdue,
  • You-Lin Qiao,
  • Preetha Rajaraman,
  • Francisco X. Real,
  • Elio Riboli,
  • Harvey A. Risch,
  • Benjamin Rodriguez-Santiago,
  • Avima M. Ruder,
  • Sharon A. Savage,
  • Fredrick Schumacher,
  • Ann G. Schwartz,
  • Kendra L. Schwartz,
  • Adeline Seow,
  • Veronica Wendy Setiawan,
  • Gianluca Severi,
  • Hongbing Shen,
  • Xin Sheng,
  • Min-Ho Shin,
  • Xiao-Ou Shu,
  • Debra T. Silverman,
  • Margaret R. Spitz,
  • Victoria L. Stevens,
  • Rachael Stolzenberg-Solomon,
  • Daniel Stram,
  • Ze-Zhong Tang,
  • Philip R. Taylor,
  • Lauren R. Teras,
  • Geoffrey S. Tobias,
  • David Van Den Berg,
  • Kala Visvanathan,
  • Sholom Wacholder,
  • Jiu-Cun Wang,
  • Zhaoming Wang,
  • Nicolas Wentzensen,
  • William Wheeler,
  • Emily White,
  • John K. Wiencke,
  • Brian M. Wolpin,
  • Maria Pik Wong,
  • Chen Wu,
  • Tangchun Wu,
  • Xifeng Wu,
  • Yi-Long Wu,
  • Jay S. Wunder,
  • Lucy Xia,
  • Hannah P. Yang,
  • Pan-Chyr Yang,
  • Kai Yu,
  • Krista A. Zanetti,
  • Anne Zeleniuch-Jacquotte,
  • Wei Zheng,
  • Baosen Zhou,
  • Regina G. Ziegler,
  • Luis A. Perez-Jurado,
  • Neil E. Caporaso,
  • Nathaniel Rothman,
  • Margaret Tucker,
  • Michael C. Dean,
  • Meredith Yeager,
  • Stephen J. Chanock

DOI
https://doi.org/10.1038/ncomms11843
Journal volume & issue
Vol. 7, no. 1
pp. 1 – 9

Abstract

Read online

It is unclear how often genetic mosaicism of chromosome X arises. Here, the authors examine women with cancer and cancer-free controls and show that X chromosome mosaicism occurs more frequently than on autosomes, especially on the inactive X chromosome, but is not linked to non-haematologic cancer risk