國家衛生研究院 NHRI:Item 3990099045/9853
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    题名: Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome
    作者: Machiela, MJ;Zhou, W;Karlins, E;Sampson, JN;Freedman, ND;Yang, Q;Hicks, B;Dagnall, C;Hautman, C;Jacobs, KB;Abnet, CC;Aldrich, MC;Amos, C;Amundadottir, LT;Arslan, AA;Beane-Freeman, LE;Berndt, SI;Black, A;Blot, WJ;Bock, CH;Bracci, PM;Brinton, LA;Bueno-de-Mesquita, HB;Burdett, L;Buring, JE;Butler, MA;Canzian, F;Carreon, T;Chaffee, KG;Chang, IS;Chatterjee, N;Chen, C;Chen, C;Chen, K;Chung, CC;Cook, LS;Crous Bou, M;Cullen, M;Davis, FG;De Vivo, I;Ding, T;Doherty, J;Duell, EJ;Epstein, CG;Fan, JH;Figueroa, JD;Fraumeni, JF;Friedenreich, CM;Fuchs, CS;Gallinger, S;Gao, YT;Gapstur, SM;Garcia-Closas, M;Gaudet, MM;Gaziano, JM;Giles, GG;Gillanders, EM;Giovannucci, EL;Goldin, L;Goldstein, AM;Haiman, CA;Hallmans, G;Hankinson, SE;Harris, CC;Henriksson, R;Holly, EA;Hong, YC;Hoover, RN;Hsiung, CA;Hu, N;Hu, W;Hunter, DJ;Hutchinson, A;Jenab, M;Johansen, C;Khaw, KT;Kim, HN;Kim, YH;Kim, YT;Klein, AP;Klein, R;Koh, WP;Kolonel, LN;Kooperberg, C;Kraft, P;Krogh, V;Kurtz, RC;LaCroix, A;Lan, Q;Landi, MT;Marchand, LL;Li, D;Liang, X;Liao, LM;Lin, D;Liu, J;Lissowska, J;Lu, L;Magliocco, AM;Malats, N, .;et al.
    贡献者: National Institute of Cancer Research;Division of Biostatistics and Bioinformatics
    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.
    日期: 2016-06-13
    關聯: Nature Communications. 2016 Jun 13;7:Article number 11843.
    Link to: http://dx.doi.org/10.1038/ncomms11843
    JIF/Ranking 2023: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=2041-1723&DestApp=IC2JCR
    Cited Times(WOS): https://www.webofscience.com/wos/woscc/full-record/WOS:000378387800001
    Cited Times(Scopus): http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=84974736225
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