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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2016-06-13

AUTHORS

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

ABSTRACT

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. More... »

PAGES

11843

References to SciGraph publications

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  • Journal

    TITLE

    Nature Communications

    ISSUE

    N/A

    VOLUME

    7

    Author Affiliations

  • National Cancer Institute
  • Vanderbilt University Medical Center
  • The University of Texas MD Anderson Cancer Center
  • New York University
  • International Epidemiology Institute
  • Wayne State University
  • University of California, San Francisco
  • University of Malaya
  • Brigham and Women's Hospital
  • National Institute for Occupational Safety and Health
  • German Cancer Research Center
  • Mayo Clinic
  • National Health Research Institutes
  • Fred Hutchinson Cancer Research Center
  • Harvard University
  • Tianjin Medical University Cancer Institute and Hospital
  • University of New Mexico
  • University of Alberta
  • Dartmouth College
  • Shanghai Cancer Institute
  • Alberta Health Services
  • Dana–Farber Cancer Institute
  • Lunenfeld-Tanenbaum Research Institute
  • American Cancer Society
  • Institute of Cancer Research
  • VA Boston Healthcare System
  • University of Melbourne
  • University of Southern California
  • Umeå University
  • University of Massachusetts Amherst
  • Center for Cancer Research
  • Seoul National University
  • Broad Institute
  • International Agency For Research On Cancer
  • Rigshospitalet
  • University of Cambridge
  • Chonnam National University
  • Korea University Medical Center
  • Johns Hopkins University
  • Memorial Sloan Kettering Cancer Center
  • National University of Singapore
  • University of Hawaii at Manoa
  • Istituto Nazionale dei Tumori
  • Peking Union Medical College Hospital
  • Anhui Medical University
  • Centrum Onkologii Instytut
  • Yale University
  • Moffitt Cancer Center
  • Spanish National Cancer Research Centre
  • Aichi Cancer Center
  • Kyungpook National University Medical Center
  • Nofer Institute of Occupational Medicine
  • Tsinghua University
  • Pompeu Fabra University
  • Imperial College London
  • Centre for Biomedical Network Research on Rare Diseases
  • Human Genetics Foundation
  • Nanjing Medical University
  • Baylor College of Medicine
  • Fudan University
  • Information Management Services
  • University of Hong Kong
  • Huazhong University of Science and Technology
  • Guangdong Academy of Medical Sciences
  • Washington University in St. Louis
  • National Taiwan University
  • China Medical University
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ncomms11843

    DOI

    http://dx.doi.org/10.1038/ncomms11843

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1027613695

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/27291797


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