Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome
Authors: 
Lu, L. (Lingeng)
Lissowska, J. (Jolanta)
Liu, J. (Jianjun)
Lin, D. (Dongxin)
Liao, L. (Linda)
Liang, X. (Xiaolin)
Li, D. (Donghui)
Le-Marchand, L. (Loic)
Landi, M.T. (María Teresa)
Lan, Q. (Qing)
LaCroix, A. (Andrea)
Kurtz, R.C. (Robert C.)
Krogh, V. (Vittorio)
Kraft, P. (Peter)
Kooperberg, C. (Charles)
Kolonel, L.N. (Laurence N.)
Koh, W.P. (Woon-Puay)
Klein, R. (Robert)
Klein, A.P. (Alison P.)
Kim, Y.T. (Young Tae)
Kim, Y.H. (Yeul Hong)
Kim, H.N. (Hee Nam)
Khaw, K.T. (Kay-Tee)
Johansen, C. (Christoffer)
Jenab, M. (Mazda)
Hutchinson, A. (Amy)
Hunter, D.J. (David J.)
Hu, W. (Wei)
Hu, N. (Nan)
Hsiung, C.A. (Chao A.)
Hoover, R.N. (Robert N.)
Hong, Y.C. (Yun-Chul)
Holly, E.A. (Elizabeth A.)
Henriksson, R. (Roger)
Harris, C.C. (Curtis C.)
Hankinson, S.E. (Susan E.)
Hallmans, G. (Goran)
Haiman, C.A. (Christopher A.)
Goldstein, A.M. (Alisa M.)
Goldin, L. (Lynn)
Giovannucci, E.L. (Edward L.)
Gillanders, E.M. (Elizabeth M.)
Giles, G.G. (Graham G.)
Gaziano, J.M. (J. Michael)
Gaudet, M.M. (Mia M.)
Garcia-Closas, M. (Montserrat)
Gapstur, S.M. (Susan M.)
Gao, Y.T. (Yu-Tang)
Gallinger, S. (Steven)
Fuchs, C.S. (Charles S.)
Friedenreich, C.M. (Christine M.)
Fraumeni, J.F. (Joseph F.)
Figueroa, J.D. (Jonine D.)
Fan, J.H. (Jin-Hu)
Epstein, C.G. (Caroline G.)
Duell, E.J. (Eric J.)
Doherty, J. (Jennifer)
Ding, T. (Ti)
De Vivo, I. (Immaculata)
Davis, F.G. (Faith G.)
Cullen, M. (Michael)
Crous Bou, M. (Marta)
Cook, L.S. (Linda S.)
Chung, C.C. (Charles C.)
Chen, K. (Kexin)
Chen, C. (Constance)
Chen, C. (Chu)
Chatterjee, N. (Nilanjan)
Chang, I.S. ( I-Shou)
Chaffee, K.G. (Kari G.)
Carreon, T. (Tania)
Canzian, F. (Federico)
Butler, M.A. (Mary A.)
Buring, J.E. (Julie E.)
Burdett, L. (Laurie)
Bueno-de-Mesquita, H.B. (H. Bas)
Brinton, L.A. (Louise A.)
Bracci, P.M. (Paige M.)
Bock, C.H. (Cathryn H.)
Blot, W.J. (William J.)
Black, A. (Amanda)
Berndt, S.I. (Sonja I.)
Chanock, S.J. (Stephen J.)
Yeager, M. (Meredith)
Dean, M.C. (Michael C.)
Tucker, M. (Margaret)
Rothman, N. (Nathaniel)
Caporaso, N.E. (Neil E.)
Perez-Jurado, L.A. (Luis A.)
Beane-Freeman, L.E. (Laura E.)
Ziegler, R.G. (Regina G.)
Zhou, B. (Baosen)
Zheng, W. (Wei)
Zeleniuch-Jacquotte, A. (Anne)
Zanetti, K.A. (Krista A.)
Yu, K. (Kai)
Yang, P.C. (Pan-Chyr)
Yang, H.P. (Hannah P.)
Xia, L. (Lucy)
Wunder, J.S. (Jay S.)
Arslan, A.A. (Alan A.)
Wu, Y.L. (Yi-Long)
Wu, X. (Xifeng)
Wu, T. (Tangchun)
Wu, C. (Chen)
Wong, M.P. (Maria Pik)
Wolpin, B.M. (Brian M.)
Wiencke, J.K. (John K.)
White, E. (Emily)
Wheeler, W. (William)
Wentzensen, N. (Nicolas)
Amundadottir, L. (Laufey)
Wang, Z. (Zhaoming)
Wang, J.C. (Jiu-Cun)
Wacholder, S. (Sholom)
Visvanathan, K. (Kala)
Van Den Berg, D. (David)
Tobias, G.S. (Geoffrey S.)
Teras, L.R. (Lauren R.)
Taylor, P.R. (Philip R.)
Tang, Z.Z. (Ze-Zhong)
Stram, D. (Daniel)
Amos, C. (Christopher)
Stolzenberg-Solomon, R.Z. (Rachael Z.)
Stevens, V.L. (Victoria L.)
Spitz, M.R. (Margaret R.)
Silverman, D.T. (Debra T.)
Shu, X.O. (Xiao-Ou)
Shin, M.H. (Min-Ho)
Sheng, X. (Xin)
Shen, H. (Hongbing)
Severi, G. (Gianluca)
Setiawan, V.W. (Veronica Wendy)
Aldrich, M.C. (Melinda C.)
Seow, A. (Adeline)
Schwartz, K.L. (Kendra L.)
Schwartz, A.G. (Ann G.)
Schumacher, F. (Fredrick)
Savage, S.A. (Sharon A.)
Ruder, A.M. (Avima M.)
Rodriguez-Santiago, B. (Benjamin)
Risch, H.A. (Harvey A.)
Riboli, E. (Elio)
Real, F.X. (Francisco X.)
Abnet, C.C. (Christian C.)
Rajaraman, P. (Preetha)
Qiao, Y.L. (You-Lin)
Purdue, M.P. (Mark P.)
Prokunina-Olsson, L. (Ludmila)
Prescott, J. (Jennifer)
Pooler, L. (Loreall)
Petersen, G. (Gloria)
Peters, U. (Ulrike)
Peplonska, B. (Beata)
Park, J.Y. (Jae Yong)
Jacobs, K.B. (Kevin B.)
Orlow, I. (Irene)
Olson, S.H. (Sara H.)
Moore, L.E. (Lee E.)
Mirabello, L. (Lisa)
Melin, B.S. (Beatrice S.)
McWilliams, R.R. (Robert R.)
McNeill, L.H. (Lorna H.)
Matsuo, K. (Keitaro)
Malats, N. (Nuria)
Magliocco, A.M. (Anthony M.)
Hautman, C. (Christopher)
Dagnall, C. (Casey)
Hicks, B. (Belynda)
Yang, Q. (Qi)
Freedman, N.D. (Neal D.)
Sampson, J. (Joshua)
Karlins, E. (Eric)
Zhou, W. (Weiyin)
Mitchell, J.M. (J. Machiela)
Machiela, M.J. (Mitchell J.)
Patiño-García, A. (Ana) ORCID RESEARCHERID
Keywords: 
Age-related
Chromosome X
Issue Date: 
2016
Publisher: 
Nature Publishing Group: Nature Communications
ISSN: 
2041-1723
Editorial note: 
This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
Citation: 
Patiño Garcia A, Machiela M.J. et al. Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome. Nature Communications 2016;7:1-9
Abstract
To investigate large structural clonal mosaicism of chromosome X, we analysed the SNP microarray intensity data of 38,303 women from cancer genome-wide association studies (20,878 cases and 17,425 controls) and detected 124 mosaic X events42Mb in 97 (0.25%) women. Here we show rates for X-chromosome mosaicism are four times higher than mean autosomal rates; X mosaic events more often include the entire chromosome and participants with X events more likely harbour autosomal mosaic events. X mosaicism frequency increases with age (0.11% in 50-year olds; 0.45% in 75-year olds), as reported for Y and autosomes. Methylation array analyses of 33 women with X mosaicism indicate events preferentially involve the inactive X chromosome. Our results provide further evidence that the sex chromosomes undergo mosaic events more frequently than autosomes, which could have implications for understanding the underlying mechanisms of mosaic events and their possible contribution to risk for chronic diseases.

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