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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  • Mitchell J Machiela
  • Weiyin Zhou
  • Eric Karlins
  • Joshua N. Sampson
  • Neal D Freedman
  • Qi Yang
  • Belynda D Hicks
  • Casey Dagnall
  • Christopher Hautman
  • Kevin B Jacobs
  • Christian C Abnet
  • Melinda C. Aldrich
  • Christopher I Amos
  • Laufey T. Amundadottir
  • 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 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 Gaudet
  • J Michael Gaziano
  • Graham Giles
  • Elizabeth M Gillanders
  • Edward L Giovannucci
  • Lynn Goldin
  • Alisa M Goldstein
  • Christopher A Haiman
  • Goran Hallmans
  • Susan E Hankinson
  • Curtis C Harris
  • Roger Henriksson
  • Elizabeth A. Holly
  • Yun Chul Hong
  • Robert N Hoover
  • Chao A Hsiung
  • Nan Hu
  • Zhuo-Wei Hu
  • David J Hunter
  • Amy Hutchinson
  • Mazda Jenab
  • 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
  • Loic Le Marchand
  • Donghui Li
  • Xiaolin Liang
  • Linda M. Liao
  • Dongxin Lin
  • Jianjun Liu
  • Jolanta Lissowska
  • Lingeng Lu
  • Anthony M Magliocco
  • Núria Malats
  • Keitaro Matsuo
  • Lorna H. McNeill
  • Robert R. McWilliams
  • Beatrice S Melin
  • Lisa Mirabello
  • Lee Moore
  • Sara H Olson
  • Irene Orlow
  • Jae Yong Park
  • Ana Patinõ-Garcia
  • Beata Peplonska
  • Ulrike Peters
  • Gloria M. Petersen
  • Loreall C Pooler
  • Jennifer Prescott
  • Ludmila Prokunina-Olsson
  • Mark P. Purdue
  • You Lin Qiao
  • Preetha Rajaraman
  • Francisco X. Real
  • Elio Riboli
  • Harvey A Risch
  • Benjamín Rodríguez-Santiago
  • Avima M Ruder
  • Sharon A Savage
  • Fredrick Schumacher
  • Ann G. Schwartz
  • Kendra L. Schwartz
  • Adeline Seow
  • Veronica Wendy Setiawan
  • Gianluca Severi
  • Hongbing Shen
  • Xin Sheng
  • Min Ho Shin
  • Xiao-Ou Shu
  • Debra T. Silverman
  • Margaret R Spitz
  • Victoria L Stevens
  • Rachael Stolzenberg-Solomon
  • Daniel O Stram
  • Ze Zhong Tang
  • Philip R. Taylor
  • Lauren R. Teras
  • Geoffrey S. Tobias
  • David Van Den Berg
  • Kala Visvanathan
  • Sholom Wacholder
  • Jiu Cun Wang
  • Zhaoming Wang
  • Nicolas Wentzensen
  • William Wheeler
  • Emily White
  • John K Wiencke
  • Brian M. Wolpin
  • Maria Pik Wong
  • Chen Wu
  • Tangchun Wu
  • Xifeng Wu
  • Yi Long Wu
  • Jay S. Wunder
  • Lucy Xia
  • Hannah P Yang
  • Pan Chyr Yang
  • Kai Yu
  • Krista A. Zanetti
  • Anne Zeleniuch-Jacquotte
  • Wei Zheng
  • Baosen Zhou
  • Regina G Ziegler
  • Luis A. Perez-Jurado
  • Neil E. Caporaso
  • Nathaniel Rothman
  • Margaret A Tucker
  • Michael C. Dean
  • Meredith Yeager
  • Stephen J Chanock

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.

OriginalsprogEngelsk
Artikelnummer11843
TidsskriftNature Communications
Vol/bind7
Antal sider9
ISSN2041-1723
DOI
StatusUdgivet - jun. 2016

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