lunes, 20 de junio de 2016

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

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



 2016 Jun 13;7:11843. doi: 10.1038/ncomms11843.

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

Machiela MJZhou WKarlins ESampson JNFreedman NDYang QHicks BDagnall CHautman CJacobs KBAbnet CCAldrich MCAmos C,Amundadottir LTArslan AABeane-Freeman LEBerndt SIBlack ABlot WJBock CHBracci PMBrinton LABueno-de-Mesquita HBBurdett LBuring JE,Butler MACanzian FCarreón TChaffee KGChang ISChatterjee NChen CChen CChen KChung CCCook LSCrous Bou MCullen MDavis FG,De Vivo IDing TDoherty JDuell EJEpstein CGFan JHFigueroa JDFraumeni JFFriedenreich CMFuchs CSGallinger SGao YTGapstur SM,Garcia-Closas MGaudet MMGaziano JMGiles GGGillanders EMGiovannucci ELGoldin LGoldstein AMHaiman CAHallmans GHankinson SE,Harris CCHenriksson RHolly EAHong YCHoover RNHsiung CAHu NHu WHunter DJHutchinson AJenab MJohansen CKhaw KTKim HNKim YHKim YTKlein APKlein RKoh WPKolonel LNKooperberg CKraft PKrogh VKurtz RCLaCroix ALan QLandi MTMarchand LLLi DLiang X,Liao LMLin DLiu JLissowska JLu LMagliocco AMMalats NMatsuo KMcNeill LHMcWilliams RRMelin BSMirabello LMoore LOlson SHOrlow I,Park JYPatiño-Garcia APeplonska BPeters UPetersen GMPooler LPrescott JProkunina-Olsson LPurdue MPQiao YLRajaraman PReal FX,Riboli ERisch HARodriguez-Santiago BRuder AMSavage SASchumacher FSchwartz AGSchwartz KLSeow AWendy Setiawan VSeveri GShen HSheng XShin MHShu XOSilverman DTSpitz MRStevens VLStolzenberg-Solomon RStram DTang ZZTaylor PRTeras LRTobias GSVan Den Berg DVisvanathan KWacholder SWang JCWang ZWentzensen NWheeler WWhite EWiencke JKWolpin BMWong MPWu CWu TWu XWu YL,Wunder JSXia LYang HPYang PCYu KZanetti KAZeleniuch-Jacquotte AZheng WZhou BZiegler RGPerez-Jurado LACaporaso NERothman N,Tucker MDean MCYeager MChanock SJ.

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.

PMID:
 
27291797
 
[PubMed - in process]

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