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

Article scientifique 2016 Anglais

Résumé

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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Machiela, M., Zhou, W., Karlins, E., Sampson, J., Freedman, N., Yang, Q., Hicks, B., Dagnall, C., Hautman, C., Jacobs, K., Abnet, C., Aldrich, M., Amos, C., Ámundadóttir, L., Arslan, A., Freeman, L., Berndt, S., Black, A., Blot, W., Bock, C., Bracci, P., Brinton, L., Bueno‐de‐Mesquita, H., Burdett, L., Buring, J., Butler, M., Canzian, F., Carreón, T., Chaffee, K., Chang, I., Chatterjee, N., Chen, C., Chen, C., Chen, K., Chung, C., Cook, L., Crous‐Bou, M., Cullen, M., Davis, F., Vivo, I., Ding, T., Doherty, J., Duell, E., Epstein, C., Fan, J., Figueroa, J., Fraumeni, J., Friedenreich, C., Fuchs, C., Gallinger, S., Gao, Y., Gapstur, S., García‐Closas, M., Gaudet, M., Gaziano, J., Giles, G., Gillanders, E., Giovannucci, E., Goldin, L., Goldstein, A., Haiman, C., Hallmans, G., Hankinson, S., Harris, C., Henriksson, R., Holly, E., Hong, Y., Hoover, R., Hsiung, C., Hu, N., Hu, W., Hunter, D., Hutchinson, A., Jenab, M., Johansen, C., Khaw, K., Kim, H., Kim, Y., Kim, Y., Klein, A., Klein, R., Koh, W., Kolonel, L., Kooperberg, C., Kraft, P., Krogh, V., Kurtz, R., LaCroix, A., Lan, Q., Landi, M., Marchand, L., Li, D., Liang, X., Liao, L., Lin, D., Liu, J., Lissowska, J., Lu, L., Magliocco, A., Malats, N. (2016). Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome. https://doi.org/10.1038/ncomms11843

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Auteur(s)

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 I. Amos Laufey T. Ámundadóttir 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 Ann 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 A. 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 García‐Closas Mia M. Gaudet J. Michael Gaziano Graham G. Giles Elizabeth M. Gillanders Edward L. Giovannucci Lynn R. Goldin Alisa M. Goldstein Christopher A. Haiman Göran 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 J. Klein Woon‐Puay Koh Laurence N. Kolonel Charles Kooperberg Peter Kraft Vittorio Krogh Robert C. Kurtz Andrea Z. LaCroix Qing Lan Maria Teresa Landi Loı̈c Le Marchand Donghui Li Xiaolin Liang Linda M. Liao Dongxin Lin Jianjun Liu Jolanta Lissowska Lingeng Lu Anthony Magliocco Núria Malats

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