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

MacHiela, Mj; Zhou, Weiyin; Yang, Q.; Yang, Pc; Karlins, Eric; Yang, Qi; Zanetti, Ka; Ziegler, Rg; Hicks, Belynda; Dagnall, Casey; Hautman, Christopher; Sampson, Jn; Abnet, Christian Cc; Ruder, Am; Amos, Christopher; Savage, Sa; Arslan, Alan Aa; Schwartz, Ag; Schwartz, Kl; Black, Amanda; Shin, Mh; Shu, Xo; Silverman, Dt; Bueno-De-Mesquita, Hb Bas; Burdett, Laurie; Spitz, Mr; Butler, Mary A.; Canzian, Federico; Carreón, Tania; Stevens, Vl; Chang, Is-Shou; Chatterjee, Nilanjan; Chen, Chu; Chen, Constance; Chen, Kexin; Chung, Charles Cc; Bou, Marta Crous; Tang, Zz; Crous Bou, Marta; Cullen, Michael; Taylor, Pr; De Vivo, Immaculata; Ding, Ti; Doherty, Jennifer; Teras, Lr; Tobias, Gs; Wang, Jc; Figueroa, Jonine D.; Wiencke, Jk; Wolpin, Bm; Wu, Yl; Gallinger, Steven; Wunder, Js; Yang, Hp; Garcia-Closas, Montserrat; Gaudet, Mia Mm; Gaziano, Jm Michael; Giles, Graham Gg; Freedman, Nd; Jacobs, Kb; Aldrich, Mc; Goldin, Lynn; Amundadottir, Lt; Beane-Freeman, Le; Hallmans, Goran; Berndt, Si; Harris, Curtis Cc; Henriksson, Roger; Blot, Wj; Bock, Ch; Hoover, Robert N.; Bracci, Pm; Hu, Nan; Hu, Wei; Brinton, La; Hutchinson, Amy; Jenab, Mazda; Johansen, Christoffer; Buring, Je; Chaffee, Kg; Cook, Ls; Davis, Fg; Duell, Ej; Klein, Robert; Epstein, Cg; Fan, Jh; Kooperberg, Charles; Kraft, Peter; Krogh, Vittorio; Fraumeni, Jf; Lacroix, Andrea; Lan, Qing; Le Marchand, Loic; Friedenreich, Cm; Li, Donghui; Fuchs, Cs; Liang, Xiaolin; Lin, Dongxin; Gao, Yt; Liu, Jianjun; Lissowska, Jolanta; Lu, Lingeng; Malats, Nuria; Gapstur, Sm; Matsuo, Keitaro; Setiawan, Veronica Wendy; McWilliams, Robert Rr; Gillanders, Em; Mirabello, Lisa; Giovannucci, El; Moore, Lee; Goldstein, Am; Orlow, Irene; Haiman, Ca; Patinõ-Garcia, Ana; Peplonska, Beata; Peters, Ulrike; Hankinson, Se; Pooler, Loreall; Prescott, Jennifer; Prokunina-Olsson, Ludmila; Purdue, Mark P.; Rajaraman, Preetha; Holly, Ea; Riboli, Elio; Hong, Yc; Rodriguez-Santiago, Benjamin; Hsiung, Ca; Schumacher, Fredrick; Hunter, Dj; Khaw, Kt; Seow, Adeline; Wendy Setiawan, Veronica; Severi, Gianluca; Shen, Hongbing; Sheng, Xin; Kim, Hn; Kim, Yh; Kim, Yt; Klein, Ap; Koh, Wp; Stolzenberg-Solomon, Rachael; Stram, Daniel; Kolonel, Ln; Kurtz, Rc; Landi, Mt; Marchand, Ll; Van Den Berg, David; Visvanathan, Kala; Wacholder, Sholom; Liao, Lm; Wang, Zhaoming; Wentzensen, Nicolas; Wheeler, William; White, Emily; Magliocco, Am; McNeill, Lh; Wong, Maria Pik; Wu, Chen; Wu, Tangchun; Wu, Xifeng; Melin, Bs; Olson, Sh; Xia, Lucy; Park, Jy; Yang, Pan-Chyr; Yu, Kai; Petersen, Gm; Zeleniuch-Jacquotte, Anne; Zheng, Wei; Zhou, Baosen; Qiao, Yl; Real, Fx; Risch, Ha; Rothman, Nathaniel; Tucker, Margaret; Perez-Jurado, La; Yeager, Meredith; Caporaso, Ne; Dean, Mc; Chanock, Sj

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Mitchell Machiela
MacHiela et al., 2016

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Nature Research, Nature Communications, 1(7), 2016

DOI: 10.1038/ncomms11843

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@article{MacHiela2016,
  abstract = {AbstractTo 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 &gt;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.},
  author = {MacHiela, Mj and Zhou, Weiyin and Yang, Q. and Yang, Pc and Karlins, Eric and Yang, Qi and Zanetti, Ka and Ziegler, Rg and Hicks, Belynda and Dagnall, Casey and Hautman, Christopher and Sampson, Jn and Abnet, Christian Cc and Ruder, Am and Amos, Christopher and Savage, Sa and Arslan, Alan Aa and Schwartz, Ag and Schwartz, Kl and Black, Amanda and Shin, Mh and Shu, Xo and Silverman, Dt and Bueno-De-Mesquita, Hb Bas and Burdett, Laurie and Spitz, Mr and Butler, Mary A. and Canzian, Federico and Carreón, Tania and Stevens, Vl and Chang, Is-Shou and Chatterjee, Nilanjan and Chen, Chu and Chen, Constance and Chen, Kexin and Chung, Charles Cc and Bou, Marta Crous and Tang, Zz and Crous Bou, Marta and Cullen, Michael and Taylor, Pr and De Vivo, Immaculata and Ding, Ti and Doherty, Jennifer and Teras, Lr and Tobias, Gs and Wang, Jc and Figueroa, Jonine D. and Wiencke, Jk and Wolpin, Bm and Wu, Yl and Gallinger, Steven and Wunder, Js and Yang, Hp and Garcia-Closas, Montserrat and Gaudet, Mia Mm and Gaziano, Jm Michael and Giles, Graham Gg and Freedman, Nd and Jacobs, Kb and Aldrich, Mc and Goldin, Lynn and Amundadottir, Lt and Beane-Freeman, Le and Hallmans, Goran and Berndt, Si and Harris, Curtis Cc and Henriksson, Roger and Blot, Wj and Bock, Ch and Hoover, Robert N. and Bracci, Pm and Hu, Nan and Hu, Wei and Brinton, La and Hutchinson, Amy and Jenab, Mazda and Johansen, Christoffer and Buring, Je and Chaffee, Kg and Cook, Ls and Davis, Fg and Duell, Ej and Klein, Robert and Epstein, Cg and Fan, Jh and Kooperberg, Charles and Kraft, Peter and Krogh, Vittorio and Fraumeni, Jf and Lacroix, Andrea and Lan, Qing and Le Marchand, Loic and Friedenreich, Cm and Li, Donghui and Fuchs, Cs and Liang, Xiaolin and Lin, Dongxin and Gao, Yt and Liu, Jianjun and Lissowska, Jolanta and Lu, Lingeng and Malats, Nuria and Gapstur, Sm and Matsuo, Keitaro and Setiawan, Veronica Wendy and McWilliams, Robert Rr and Gillanders, Em and Mirabello, Lisa and Giovannucci, El and Moore, Lee and Goldstein, Am and Orlow, Irene and Haiman, Ca and Patinõ-Garcia, Ana and Peplonska, Beata and Peters, Ulrike and Hankinson, Se and Pooler, Loreall and Prescott, Jennifer and Prokunina-Olsson, Ludmila and Purdue, Mark P. and Rajaraman, Preetha and Holly, Ea and Riboli, Elio and Hong, Yc and Rodriguez-Santiago, Benjamin and Hsiung, Ca and Schumacher, Fredrick and Hunter, Dj and Khaw, Kt and Seow, Adeline and Wendy Setiawan, Veronica and Severi, Gianluca and Shen, Hongbing and Sheng, Xin and Kim, Hn and Kim, Yh and Kim, Yt and Klein, Ap and Koh, Wp and Stolzenberg-Solomon, Rachael and Stram, Daniel and Kolonel, Ln and Kurtz, Rc and Landi, Mt and Marchand, Ll and Van Den Berg, David and Visvanathan, Kala and Wacholder, Sholom and Liao, Lm and Wang, Zhaoming and Wentzensen, Nicolas and Wheeler, William and White, Emily and Magliocco, Am and McNeill, Lh and Wong, Maria Pik and Wu, Chen and Wu, Tangchun and Wu, Xifeng and Melin, Bs and Olson, Sh and Xia, Lucy and Park, Jy and Yang, Pan-Chyr and Yu, Kai and Petersen, Gm and Zeleniuch-Jacquotte, Anne and Zheng, Wei and Zhou, Baosen and Qiao, Yl and Real, Fx and Risch, Ha and Rothman, Nathaniel and Tucker, Margaret and Perez-Jurado, La and Yeager, Meredith and Caporaso, Ne and Dean, Mc and Chanock, Sj},
  doi = {10.1038/ncomms11843},
  journal = {Nature Communications},
  month = {jan},
  title = {Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome},
  url = {https://www.nature.com/articles/ncomms11843.pdf},
  volume = {7},
  year = {2016}
}

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

Journal article published in 2016 by Mj MacHiela

, Weiyin Zhou, Q. Yang, Pc Yang, Eric Karlins, Qi Yang, Ka Zanetti, Rg Ziegler, Belynda Hicks

, Casey Dagnall

, Christopher Hautman, Jn Sampson, Christian Cc Abnet

, Am Ruder, Christopher Amos and other authors. Mj MacHiela

, Weiyin Zhou, Q. Yang, Pc Yang, Eric Karlins, Qi Yang, Ka Zanetti, Rg Ziegler, Belynda Hicks

, Casey Dagnall

, Christopher Hautman, Jn Sampson, Christian Cc Abnet

, Am Ruder, Christopher Amos, Sa Savage

, Alan Aa Arslan

, Ag Schwartz, Kl Schwartz, Amanda Black, Mh Shin, Xo Shu, Dt Silverman, Hb Bas Bueno-De-Mesquita, Laurie Burdett, Mr Spitz, Mary A. Butler, Federico Canzian

, Tania Carreón, Vl Stevens, Is-Shou Chang, Nilanjan Chatterjee, Chu Chen, Constance Chen, Kexin Chen

, Charles Cc Chung, Marta Crous Bou, Zz Tang, Marta Crous Bou, Michael Cullen, Pr Taylor, Immaculata De Vivo, Ti Ding, Jennifer Doherty, Lr Teras, Gs Tobias

, Jc Wang, Jonine D. Figueroa, Jk Wiencke, Bm Wolpin, Yl Wu, Steven Gallinger, Js Wunder, Hp Yang, Montserrat Garcia-Closas, Mia Mm Gaudet, Jm Michael Gaziano, Graham Gg Giles

, Nd Freedman, Kb Jacobs, Mc Aldrich, Lynn Goldin, Lt Amundadottir, Le Beane-Freeman, Goran Hallmans, Si Berndt, Curtis Cc Harris, Roger Henriksson, Wj Blot, Ch Bock, Robert N. Hoover, Pm Bracci, Nan Hu, Wei Hu, La Brinton, Amy Hutchinson, Mazda Jenab

, Christoffer Johansen

, Je Buring, Kg Chaffee

, Ls Cook, Fg Davis, Ej Duell, Robert Klein, Cg Epstein, Jh Fan, Charles Kooperberg, Peter Kraft, Vittorio Krogh, Jf Fraumeni, Andrea Lacroix, Qing Lan, Loic Le Marchand, Cm Friedenreich, Donghui Li, Cs Fuchs, Xiaolin Liang, Dongxin Lin, Yt Gao, Jianjun Liu, Jolanta Lissowska, Lingeng Lu, Nuria Malats, Sm Gapstur, Keitaro Matsuo

, Veronica Wendy Setiawan, Robert Rr McWilliams, Em Gillanders, Lisa Mirabello, El Giovannucci, Lee Moore, Am Goldstein, Irene Orlow, Ca Haiman, Ana Patinõ-Garcia, Beata Peplonska, Ulrike Peters, Se Hankinson, Loreall Pooler, Jennifer Prescott, Ludmila Prokunina-Olsson, Mark P. Purdue, Preetha Rajaraman, Ea Holly, Elio Riboli, Yc Hong, Benjamin Rodriguez-Santiago, Ca Hsiung, Fredrick Schumacher, Dj Hunter, Kt Khaw, Adeline Seow, Veronica Wendy Setiawan

, Gianluca Severi, Hongbing Shen, Xin Sheng, Hn Kim, Yh Kim, Yt Kim, Ap Klein, Wp Koh, Rachael Stolzenberg-Solomon, Daniel Stram

, Ln Kolonel, Rc Kurtz, Mt Landi, Ll Marchand, David Van Den Berg, Kala Visvanathan, Sholom Wacholder, Lm Liao, Zhaoming Wang, Nicolas Wentzensen, William Wheeler, Emily White, Am Magliocco, Lh McNeill, Maria Pik Wong, Chen Wu

, Tangchun Wu, Xifeng Wu, Bs Melin, Sh Olson, Lucy Xia, Jy Park, Pan-Chyr Yang, Kai Yu, Gm Petersen, Anne Zeleniuch-Jacquotte

, Wei Zheng, Baosen Zhou, Yl Qiao, Fx Real, Ha Risch, Nathaniel Rothman, Margaret Tucker, La Perez-Jurado

, Meredith Yeager, Ne Caporaso, Mc Dean, Sj Chanock

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Abstract

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

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