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

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    35
    Author
    Machiela, MJ; Zhou, W; Karlins, E; Sampson, JN; Freedman, ND; Yang, Q; Hicks, B; Dagnall, C; Hautman, C; Jacobs, KB; ...
    Date
    2016-06-13
    Source Title
    Nature Communications
    Publisher
    NATURE PUBLISHING GROUP
    University of Melbourne Author/s
    Severi, Gianluca; Giles, Graham
    Affiliation
    Melbourne School of Population and Global Health
    Metadata
    Show full item record
    Document Type
    Journal Article
    Citations
    Machiela, M. J., Zhou, W., Karlins, E., Sampson, J. N., Freedman, N. D., Yang, Q., Hicks, B., Dagnall, C., Hautman, C., Jacobs, K. B., Abnet, C. C., Aldrich, M. C., Amos, C., Amundadottir, L. T., Arslan, A. A., Beane-Freeman, L. E., Berndt, S. I., Black, A., Blot, W. J. ,... Chanock, S. J. (2016). Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome. NATURE COMMUNICATIONS, 7 (1), https://doi.org/10.1038/ncomms11843.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/260554
    DOI
    10.1038/ncomms11843
    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.

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