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

Machiela, Mitchell J (author)
Zhou, Weiyin (author)
Karlins, Eric (author)
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Sampson, Joshua N (author)
Freedman, Neal D (author)
Yang, Qi (author)
Hicks, Belynda (author)
Dagnall, Casey (author)
Hautman, Christopher (author)
Jacobs, Kevin B (author)
Abnet, Christian C (author)
Aldrich, Melinda C (author)
Amos, Christopher (author)
Amundadottir, Laufey T (author)
Arslan, Alan A (author)
Beane-Freeman, Laura E (author)
Berndt, Sonja I (author)
Black, Amanda (author)
Blot, William J (author)
Bock, Cathryn H (author)
Bracci, Paige M (author)
Brinton, Louise A (author)
Bueno-de-Mesquita, H Bas (author)
Burdett, Laurie (author)
Buring, Julie E (author)
Butler, Mary A (author)
Canzian, Federico (author)
Carreón, Tania (author)
Chaffee, Kari G (author)
Chang, I-Shou (author)
Chatterjee, Nilanjan (author)
Chen, Chu (author)
Chen, Constance (author)
Chen, Kexin (author)
Chung, Charles C (author)
Cook, Linda S (author)
Crous Bou, Marta (author)
Cullen, Michael (author)
Davis, Faith G (author)
De Vivo, Immaculata (author)
Ding, Ti (author)
Doherty, Jennifer (author)
Duell, Eric J (author)
Epstein, Caroline G (author)
Fan, Jin-Hu (author)
Figueroa, Jonine D (author)
Fraumeni, Joseph F (author)
Friedenreich, Christine M (author)
Fuchs, Charles S (author)
Gallinger, Steven (author)
Gao, Yu-Tang (author)
Gapstur, Susan M (author)
Garcia-Closas, Montserrat (author)
Gaudet, Mia M (author)
Gaziano, J Michael (author)
Giles, Graham G (author)
Gillanders, Elizabeth M (author)
Giovannucci, Edward L (author)
Goldin, Lynn (author)
Goldstein, Alisa M (author)
Haiman, Christopher A (author)
Hallmans, Göran (author)
Umeå universitet,Näringsforskning
Hankinson, Susan E (author)
Harris, Curtis C (author)
Henriksson, Roger (author)
Umeå universitet,Onkologi
Holly, Elizabeth A (author)
Hong, Yun-Chul (author)
Hoover, Robert N (author)
Hsiung, Chao A (author)
Hu, Nan (author)
Hu, Wei (author)
Hunter, David J (author)
Hutchinson, Amy (author)
Jenab, Mazda (author)
Johansen, Christoffer (author)
Khaw, Kay-Tee (author)
Kim, Hee Nam (author)
Kim, Yeul Hong (author)
Kim, Young Tae (author)
Klein, Alison P (author)
Klein, Robert (author)
Koh, Woon-Puay (author)
Kolonel, Laurence N (author)
Kooperberg, Charles (author)
Kraft, Peter (author)
Krogh, Vittorio (author)
Kurtz, Robert C (author)
LaCroix, Andrea (author)
Lan, Qing (author)
Landi, Maria Teresa (author)
Marchand, Loic Le (author)
Li, Donghui (author)
Liang, Xiaolin (author)
Liao, Linda M (author)
Lin, Dongxin (author)
Liu, Jianjun (author)
Lissowska, Jolanta (author)
Lu, Lingeng (author)
Magliocco, Anthony M (author)
Malats, Nuria (author)
Matsuo, Keitaro (author)
McNeill, Lorna H (author)
McWilliams, Robert R (author)
Melin, Beatrice S (author)
Umeå universitet,Onkologi
Mirabello, Lisa (author)
Moore, Lee (author)
Olson, Sara H (author)
Orlow, Irene (author)
Park, Jae Yong (author)
Patiño-Garcia, Ana (author)
Peplonska, Beata (author)
Peters, Ulrike (author)
Petersen, Gloria M (author)
Pooler, Loreall (author)
Prescott, Jennifer (author)
Prokunina-Olsson, Ludmila (author)
Purdue, Mark P (author)
Qiao, You-Lin (author)
Rajaraman, Preetha (author)
Real, Francisco X (author)
Riboli, Elio (author)
Risch, Harvey A (author)
Rodriguez-Santiago, Benjamin (author)
Ruder, Avima M (author)
Savage, Sharon A (author)
Schumacher, Fredrick (author)
Schwartz, Ann G (author)
Schwartz, Kendra L (author)
Seow, Adeline (author)
Wendy Setiawan, Veronica (author)
Severi, Gianluca (author)
Shen, Hongbing (author)
Sheng, Xin (author)
Shin, Min-Ho (author)
Shu, Xiao-Ou (author)
Silverman, Debra T (author)
Spitz, Margaret R (author)
Stevens, Victoria L (author)
Stolzenberg-Solomon, Rachael (author)
Stram, Daniel (author)
Tang, Ze-Zhong (author)
Taylor, Philip R (author)
Teras, Lauren R (author)
Tobias, Geoffrey S (author)
Van Den Berg, David (author)
Visvanathan, Kala (author)
Wacholder, Sholom (author)
Wang, Jiu-Cun (author)
Wang, Zhaoming (author)
Wentzensen, Nicolas (author)
Wheeler, William (author)
White, Emily (author)
Wiencke, John K (author)
Wolpin, Brian M (author)
Wong, Maria Pik (author)
Wu, Chen (author)
Wu, Tangchun (author)
Wu, Xifeng (author)
Wu, Yi-Long (author)
Wunder, Jay S (author)
Xia, Lucy (author)
Yang, Hannah P (author)
Yang, Pan-Chyr (author)
Yu, Kai (author)
Zanetti, Krista A (author)
Zeleniuch-Jacquotte, Anne (author)
Zheng, Wei (author)
Zhou, Baosen (author)
Ziegler, Regina G (author)
Perez-Jurado, Luis A (author)
Caporaso, Neil E (author)
Rothman, Nathaniel (author)
Tucker, Margaret (author)
Dean, Michael C (author)
Yeager, Meredith (author)
Chanock, Stephen J (author)
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 (creator_code:org_t)
2016-06-13
English.
In: Nature Communications. - : Nature Publishing Group. - 2041-1723. ; 7
  • Journal article (peer-reviewed)
Abstract Subject headings
Close  
  • 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.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cancer and Oncology (hsv//eng)

Keyword

Biological sciences
Cancer
Genetics

Publication and Content Type

ref (subject category)
art (subject category)

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