Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome
MacHiela Mitchell J.
Zhou Weiyin
Karlins Eric
Sampson Joshua N.
Freedman Neal D.
Yang Qi
Hicks Belynda
Dagnall Casey
Hautman Christopher
Jacobs Kevin B.
Abnet Christian C.
Aldrich Melinda C.
Amos Christopher
Amundadottir Laufey T.
Arslan Alan A.
Beane-Freeman Laura E.
Berndt Sonja I.
Black Amanda
Blot William
Bock Cathryn H.
Bracci Paige M.
Brinton Louise A.
Bueno-De-Mesquita H. Bas
Burdett Laurie
Buring Julie E.
Canzian Federico
Chaffee Kari G.
Chang I-Shou
Chatterjee Nilanjan
Chen Chu
Chen Constance
Chen Kexin
Chung Charles C.
Crous-Bou Marta
Cullen Michael
Davis Faith G.
De Vivo Immaculata
Doherty Jennifer Anne
Duell Eric J.
Epstein Caroline G.
Fan Jin-Hu
Figueroa Jonine D.
Fraumeni Jr. Joseph F.
Friedenreich Christine M.
Fuchs Charles
Gallinger Steven
Gao Yu-Tang
Gapstur Susan M.
García-Closas Montserrat
Gaudet Mia M.
Gaziano J. Michael
Giles Graham G.
Gillanders Elizabeth M.
Giovannucci Edward L.
Goldin Lynn
Goldstein Alisa M.
Haiman Christopher A.
Hallmans Goran
Hankinson Susan E.
Harris Curtis C.
Henriksson Roger
Holly Elizabeth A.
Hong Yun-Chul
Hoover Robert N.
Hsiung Chao A.
Hu Nan
Hu Wei
Hunter David J.
Hutchinson Amy
Johansen Christoffer
Khaw Kay-Tee
Kim Hee Nam
Kim Yeul Hong
Kim Young Tae
Klein Alison P.
Klein Robert
Koh Woon-Puay
Kolonel Laurence N.
Kooperberg Charles
Kraft Peter
Krogh Vittorio
Kurtz Robert C.
Lacroix Andrea
Lan Qing
Landi Maria Teresa
Marchand Loic Le
Li Donghui
Liao Linda M.
Lin Dongxin
Liu Jianjun
Lissowska Jolanta
Lu Lingeng
Magliocco Anthony M.
Matsuo Keitaro
McNeill Lorna H.
McWilliams Robert R.
Melin Beatrice S.
Mirabello Lisa
Moore Lee E.
Park Jae Yong
Pati?o-Garcia Ana
Peters Ulrike
Petersen Gloria M.
Prescott Jennifer
Prokunina-Olsson Ludmila
Purdue Mark P.
Qiao You-Lin
Rajaraman Preetha
Real Francisco X.
Riboli Elio
Risch Harvey A.
Rodriguez-Santiago Benjamin
Savage Sharon A.
Schumacher Fredrick R.
Schwartz Ann G.
Schwartz Kendra
Seow Adeline
Wendy Setiawan Veronica
Severi Gianluca
Shen Hongbing
Shin Min-Ho
Shu Xiao Ou
Silverman Debra T.
Stevens Victoria L.
Stolzenberg-Solomon Rachael S.
Stram Daniel
Taylor Phil R.
Teras Lauren R.
Tobias Geoffrey S.
Van den Berg David
Wacholder Sholom
Wang Jiu-Cun
Wang Zhaoming
Wentzensen Nicolas
White Emily
Wolpin Brian M.
Wong Maria Pik
Wu Chen
Wu Tangchun
Wu Xifeng
Wu Yi-Long
Wunder Jay S.
Yang Hannah P.
Yang Pan-Chyr
Yu Kai
Zanetti Krista A.
Zeleniuch-Jacquotte Anne
Zheng Wei
Zhou Bao-Sen
Ziegler Regina G.
Perez-Jurado Luis A.
Caporaso Neil
Rothman Nathaniel
Tucker Margaret
Dean Michael
Yeager Meredith
Chanock Stephen
· 2016
期刊名称：
Nature Communications
2016 年
7 卷
摘要：
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 events >2 Mb 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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