Show simple item record

dc.contributor.authorMachiela, MJ
dc.contributor.authorZhou, W
dc.contributor.authorKarlins, E
dc.contributor.authorSampson, JN
dc.contributor.authorFreedman, ND
dc.contributor.authorYang, Q
dc.contributor.authorHicks, B
dc.contributor.authorDagnall, C
dc.contributor.authorHautman, C
dc.contributor.authorJacobs, KB
dc.contributor.authorAbnet, CC
dc.contributor.authorAldrich, MC
dc.contributor.authorAmos, C
dc.contributor.authorAmundadottir, LT
dc.contributor.authorArslan, AA
dc.contributor.authorBeane-Freeman, LE
dc.contributor.authorBerndt, SI
dc.contributor.authorBlack, A
dc.contributor.authorBlot, WJ
dc.contributor.authorBock, CH
dc.contributor.authorBracci, PM
dc.contributor.authorBrinton, LA
dc.contributor.authorBueno-de-Mesquita, HB
dc.contributor.authorBurdett, L
dc.contributor.authorBuring, JE
dc.contributor.authorButler, MA
dc.contributor.authorCanzian, F
dc.contributor.authorCarreon, T
dc.contributor.authorChaffee, KG
dc.contributor.authorChang, I-S
dc.contributor.authorChatterjee, N
dc.contributor.authorChen, C
dc.contributor.authorChen, C
dc.contributor.authorChen, K
dc.contributor.authorChung, CC
dc.contributor.authorCook, LS
dc.contributor.authorBou, MC
dc.contributor.authorCullen, M
dc.contributor.authorDavis, FG
dc.contributor.authorDe Vivo, I
dc.contributor.authorDing, T
dc.contributor.authorDoherty, J
dc.contributor.authorDuell, EJ
dc.contributor.authorEpstein, CG
dc.contributor.authorFan, J-H
dc.contributor.authorFigueroa, JD
dc.contributor.authorFraumeni, JF
dc.contributor.authorFriedenreich, CM
dc.contributor.authorFuchs, CS
dc.contributor.authorGallinger, S
dc.contributor.authorGao, Y-T
dc.contributor.authorGapstur, SM
dc.contributor.authorGarcia-Closas, M
dc.contributor.authorGaudet, MM
dc.contributor.authorGaziano, JM
dc.contributor.authorGiles, GG
dc.contributor.authorGillanders, EM
dc.contributor.authorGiovannucci, EL
dc.contributor.authorGoldin, L
dc.contributor.authorGoldstein, AM
dc.contributor.authorHaiman, CA
dc.contributor.authorHallmans, G
dc.contributor.authorHankinson, SE
dc.contributor.authorHarris, CC
dc.contributor.authorHenriksson, R
dc.contributor.authorHolly, EA
dc.contributor.authorHong, Y-C
dc.contributor.authorHoover, RN
dc.contributor.authorHsiung, CA
dc.contributor.authorHu, N
dc.contributor.authorHu, W
dc.contributor.authorHunter, DJ
dc.contributor.authorHutchinson, A
dc.contributor.authorJenab, M
dc.contributor.authorJohansen, C
dc.contributor.authorKhaw, K-T
dc.contributor.authorKim, HN
dc.contributor.authorKim, YH
dc.contributor.authorKim, YT
dc.contributor.authorKlein, AP
dc.contributor.authorKlein, R
dc.contributor.authorKoh, W-P
dc.contributor.authorKolonel, LN
dc.contributor.authorKooperberg, C
dc.contributor.authorKraft, P
dc.contributor.authorKrogh, V
dc.contributor.authorKurtz, RC
dc.contributor.authorLaCroix, A
dc.contributor.authorLan, Q
dc.contributor.authorLandi, MT
dc.contributor.authorLoic, LM
dc.contributor.authorLi, D
dc.contributor.authorLiang, X
dc.contributor.authorLiao, LM
dc.contributor.authorLin, D
dc.contributor.authorLiu, J
dc.contributor.authorLissowska, J
dc.contributor.authorLu, L
dc.contributor.authorMagliocco, AM
dc.contributor.authorMalats, N
dc.contributor.authorMatsuo, K
dc.contributor.authorMcNeill, LH
dc.contributor.authorMcWilliams, RR
dc.contributor.authorMelin, BS
dc.contributor.authorMirabello, L
dc.contributor.authorMoore, L
dc.contributor.authorOlson, SH
dc.contributor.authorOrlow, I
dc.contributor.authorPark, JY
dc.contributor.authorPatino-Garcia, A
dc.contributor.authorPeplonska, B
dc.contributor.authorPeters, U
dc.contributor.authorPetersen, GM
dc.contributor.authorPooler, L
dc.contributor.authorPrescott, J
dc.contributor.authorProkunina-Olsson, L
dc.contributor.authorPurdue, MP
dc.contributor.authorQiao, Y-L
dc.contributor.authorRajaraman, P
dc.contributor.authorReal, FX
dc.contributor.authorRiboli, E
dc.contributor.authorRisch, HA
dc.contributor.authorRodriguez-Santiago, B
dc.contributor.authorRuder, AM
dc.contributor.authorSavage, SA
dc.contributor.authorSchumacher, F
dc.contributor.authorSchwartz, AG
dc.contributor.authorSchwartz, KL
dc.contributor.authorSeow, A
dc.contributor.authorSetiawan, VW
dc.contributor.authorSeveri, G
dc.contributor.authorShen, H
dc.contributor.authorSheng, X
dc.contributor.authorShin, M-H
dc.contributor.authorShu, X-O
dc.contributor.authorSilverman, DT
dc.contributor.authorSpitz, MR
dc.contributor.authorStevens, VL
dc.contributor.authorStolzenberg-Solomon, R
dc.contributor.authorStram, D
dc.contributor.authorTang, Z-Z
dc.contributor.authorTaylor, PR
dc.contributor.authorTeras, LR
dc.contributor.authorTobias, GS
dc.contributor.authorVan den Berg, D
dc.contributor.authorVisvanathan, K
dc.contributor.authorWacholder, S
dc.contributor.authorWang, J-C
dc.contributor.authorWang, Z
dc.contributor.authorWentzensen, N
dc.contributor.authorWheeler, W
dc.contributor.authorWhite, E
dc.contributor.authorWiencke, JK
dc.contributor.authorWolpin, BM
dc.contributor.authorWong, MP
dc.contributor.authorWu, C
dc.contributor.authorWu, T
dc.contributor.authorWu, X
dc.contributor.authorWu, Y-L
dc.contributor.authorWunder, JS
dc.contributor.authorXia, L
dc.contributor.authorYang, HP
dc.contributor.authorYang, P-C
dc.contributor.authorYu, K
dc.contributor.authorZanetti, KA
dc.contributor.authorZeleniuch-Jacquotte, A
dc.contributor.authorZheng, W
dc.contributor.authorZhou, B
dc.contributor.authorZiegler, RG
dc.contributor.authorPerez-Jurado, LA
dc.contributor.authorCaporaso, NE
dc.contributor.authorRothman, N
dc.contributor.authorTucker, M
dc.contributor.authorDean, MC
dc.contributor.authorYeager, M
dc.contributor.authorChanock, SJ
dc.date.accessioned2021-02-12T00:20:54Z
dc.date.available2021-02-12T00:20:54Z
dc.date.issued2016-06-13
dc.identifierpii: ncomms11843
dc.identifier.citationMachiela, 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.
dc.identifier.issn2041-1723
dc.identifier.urihttp://hdl.handle.net/11343/260554
dc.description.abstractTo 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.
dc.languageEnglish
dc.publisherNATURE PUBLISHING GROUP
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.titleFemale chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome
dc.typeJournal Article
dc.identifier.doi10.1038/ncomms11843
melbourne.affiliation.departmentMelbourne School of Population and Global Health
melbourne.affiliation.facultyMedicine, Dentistry & Health Sciences
melbourne.source.titleNature Communications
melbourne.source.volume7
melbourne.source.issue1
dc.rights.licenseCC BY
melbourne.elementsid1068254
melbourne.contributor.authorSeveri, Gianluca
melbourne.contributor.authorGiles, Graham
dc.identifier.eissn2041-1723
melbourne.accessrightsOpen Access


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record