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

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Machiela, Mitchell J (author)

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

Article/chapterEnglish2016

Publisher, publication year, extent ...

2016-06-13
Nature Publishing Group,2016
printrdacarrier

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LIBRIS-ID:oai:DiVA.org:umu-122113
https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-122113URI
https://doi.org/10.1038/ncomms11843DOI

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Language:English
Summary in:English

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Subject category:ref swepub-contenttype
Subject category:art swepub-publicationtype

Notes

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 and genre

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
Biological sciences
Cancer
Genetics

Added entries (persons, corporate bodies, meetings, titles ...)

Zhou, Weiyin (author)
Karlins, Eric (author)
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, GöranUmeå universitet,Näringsforskning(Swepub:umu)goha0001 (author)
Hankinson, Susan E (author)
Harris, Curtis C (author)
Henriksson, RogerUmeå universitet,Onkologi(Swepub:umu)rohe0003 (author)
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 SUmeå universitet,Onkologi(Swepub:umu)bema0010 (author)
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)
Umeå universitetNäringsforskning (creator_code:org_t)

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By the author/editor: Machiela, Mitche ...; Zhou, Weiyin; Karlins, Eric; Sampson, Joshua ...; Freedman, Neal D; Yang, Qi; show more...; Hicks, Belynda; Dagnall, Casey; Hautman, Christo ...; Jacobs, Kevin B; Abnet, Christian ...; Aldrich, Melinda ...; Amos, Christophe ...; Amundadottir, La ...; Arslan, Alan A; Beane-Freeman, L ...; Berndt, Sonja I; Black, Amanda; Blot, William J; Bock, Cathryn H; Bracci, Paige M; Brinton, Louise ...; Bueno-de-Mesquit ...; Burdett, Laurie; Buring, Julie E; Butler, Mary A; Canzian, Federic ...; Carreón, Tania; Chaffee, Kari G; Chang, I-Shou; Chatterjee, Nila ...; Chen, Chu; Chen, Constance; Chen, Kexin; Chung, Charles C; Cook, Linda S; Crous Bou, Marta; Cullen, Michael; Davis, Faith G; De Vivo, Immacul ...; Ding, Ti; Doherty, Jennife ...; Duell, Eric J; Epstein, Carolin ...; Fan, Jin-Hu; Figueroa, Jonine ...; Fraumeni, Joseph ...; Friedenreich, Ch ...; Fuchs, Charles S; Gallinger, Steve ...; Gao, Yu-Tang; Gapstur, Susan M; Garcia-Closas, M ...; Gaudet, Mia M; Gaziano, J Micha ...; Giles, Graham G; Gillanders, Eliz ...; Giovannucci, Edw ...; Goldin, Lynn; Goldstein, Alisa ...; Haiman, Christop ...; Hallmans, Göran; Hankinson, Susan ...; Harris, Curtis C; Henriksson, Roge ...; Holly, Elizabeth ...; Hong, Yun-Chul; Hoover, Robert N; Hsiung, Chao A; Hu, Nan; Hu, Wei; Hunter, David J; Hutchinson, Amy; Jenab, Mazda; Johansen, Christ ...; Khaw, Kay-Tee; Kim, Hee Nam; Kim, Yeul Hong; Kim, Young Tae; Klein, Alison P; Klein, Robert; Koh, Woon-Puay; Kolonel, Laurenc ...; Kooperberg, Char ...; Kraft, Peter; Krogh, Vittorio; Kurtz, Robert C; LaCroix, Andrea; Lan, Qing; Landi, Maria Ter ...; Marchand, Loic L ...; Li, Donghui; Liang, Xiaolin; Liao, Linda M; Lin, Dongxin; Liu, Jianjun; Lissowska, Jolan ...; Lu, Lingeng; Magliocco, Antho ...; Malats, Nuria; Matsuo, Keitaro; McNeill, Lorna H; McWilliams, Robe ...; Melin, Beatrice ...; Mirabello, Lisa; Moore, Lee; Olson, Sara H; Orlow, Irene; Park, Jae Yong; Patiño-Garcia, A ...; Peplonska, Beata; Peters, Ulrike; Petersen, Gloria ...; Pooler, Loreall; Prescott, Jennif ...; Prokunina-Olsson ...; Purdue, Mark P; Qiao, You-Lin; Rajaraman, Preet ...; Real, Francisco ...; Riboli, Elio; Risch, Harvey A; Rodriguez-Santia ...; Ruder, Avima M; Savage, Sharon A; Schumacher, Fred ...; Schwartz, Ann G; Schwartz, Kendra ...; Seow, Adeline; Wendy Setiawan, ...; Severi, Gianluca; Shen, Hongbing; Sheng, Xin; Shin, Min-Ho; Shu, Xiao-Ou; Silverman, Debra ...; Spitz, Margaret ...; Stevens, Victori ...; Stolzenberg-Solo ...; Stram, Daniel; Tang, Ze-Zhong; Taylor, Philip R; Teras, Lauren R; Tobias, Geoffrey ...; Van Den Berg, Da ...; Visvanathan, Kal ...; Wacholder, Sholo ...; Wang, Jiu-Cun; Wang, Zhaoming; Wentzensen, Nico ...; Wheeler, William; White, Emily; Wiencke, John K; Wolpin, Brian M; Wong, Maria Pik; Wu, Chen; Wu, Tangchun; Wu, Xifeng; Wu, Yi-Long; Wunder, Jay S; Xia, Lucy; Yang, Hannah P; Yang, Pan-Chyr; Yu, Kai; Zanetti, Krista ...; Zeleniuch-Jacquo ...; Zheng, Wei; Zhou, Baosen; Ziegler, Regina ...; Perez-Jurado, Lu ...; Caporaso, Neil E; Rothman, Nathani ...; Tucker, Margaret; Dean, Michael C; Yeager, Meredith; Chanock, Stephen ...; show less...

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