標題: | Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome |
作者: | 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 J Bock, Cathryn H Bracci, Paige M Brinton, Louise A Bueno-de-Mesquita, H Bas Burdett, Laurie Buring, Julie E Butler, Mary A Canzian, Federico Carreón, Tania Chaffee, Kari G Chang, I-Shou Chatterjee, Nilanjan Chen, Chu Chen, Constance Chen, Kexin Chung, Charles C Cook, Linda S Crous Bou, Marta Cullen, Michael Davis, Faith G De Vivo, Immaculata Ding, Ti Doherty, Jennifer Duell, Eric J Epstein, Caroline G Fan, Jin-Hu Figueroa, Jonine D Fraumeni, Joseph F Friedenreich, Christine M Fuchs, Charles S Gallinger, Steven Gao, Yu-Tang Gapstur, Susan M Garcia-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 Jenab, Mazda 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 Liang, Xiaolin Liao, Linda M Lin, Dongxin Liu, Jianjun Lissowska, Jolanta Lu, Lingeng Magliocco, Anthony M Malats, Nuria Matsuo, Keitaro McNeill, Lorna H McWilliams, Robert R Melin, Beatrice S Mirabello, Lisa Moore, Lee Olson, Sara H Orlow, Irene Park, Jae Yong Patiño-Garcia, Ana Peplonska, Beata Peters, Ulrike Petersen, Gloria M Pooler, Loreall Prescott, Jennifer Prokunina-Olsson, Ludmila Purdue, Mark P Qiao, You-Lin Rajaraman, Preetha Real, Francisco X Riboli, Elio Risch, Harvey A Rodriguez-Santiago, Benjamin Ruder, Avima M Savage, Sharon A Schumacher, Fredrick Schwartz, Ann G Schwartz, Kendra L Seow, Adeline Wendy Setiawan, Veronica Severi, Gianluca Shen, Hongbing Sheng, Xin Shin, Min-Ho Shu, Xiao-Ou Silverman, Debra T Spitz, Margaret R Stevens, Victoria L Stolzenberg-Solomon, Rachael Stram, Daniel Tang, Ze-Zhong Taylor, Philip R Teras, Lauren R Tobias, Geoffrey S Van Den Berg, David Visvanathan, Kala Wacholder, Sholom Wang, Jiu-Cun Wang, Zhaoming Wentzensen, Nicolas 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 PAN-CHYR YANG Yu, Kai Zanetti, Krista A Zeleniuch-Jacquotte, Anne Zheng, Wei Zhou, Baosen Ziegler, Regina G Perez-Jurado, Luis A Caporaso, Neil E Rothman, Nathaniel Tucker, Margaret Dean, Michael C Yeager, Meredith Chanock, Stephen J |
關鍵字: | DETECTABLE CLONAL MOSAICISM; SOMATIC MOSAICISM; BLOOD; METHYLATION; HEMATOPOIESIS; ANEUPLOIDIES; GENOME; RISK |
公開日期: | 13-六月-2016 |
出版社: | NATURE RESEARCH |
卷: | 7 |
期: | 1 |
來源出版物: | Nature communications |
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. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/627038 |
ISSN: | 2041-1723 |
DOI: | 10.1038/ncomms11843 |
顯示於: | 醫學系
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