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To investigate the frequency of male X chromosome mosaicism, we scanned for deviations in chromosome X genotyping array intensity data in a population-based survey of 196,219 UK Biobank men. We detected 12 (0.006%) men with mosaic chromosome X gains\u2009\u2265\u20092\u00a0Mb and found no evidence for mosaic chromosome X loss, a level of detection substantially lower than for autosomes or other sex chromosomes. The rarity of chromosome X mosaicism in males relative to females reflects the importance of chromosome X gene dosage for leukocyte function.<\/jats:p>","DOI":"10.1038\/s41598-020-80948-0","type":"journal-article","created":{"date-parts":[[2021,1,13]],"date-time":"2021-01-13T06:15:21Z","timestamp":1610518521000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Detectable chromosome X mosaicism in males is rarely tolerated in peripheral leukocytes"],"prefix":"10.1038","volume":"11","author":[{"given":"Weiyin","family":"Zhou","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shu-Hong","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sairah M.","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meredith","family":"Yeager","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen J.","family":"Chanock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitchell J.","family":"Machiela","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,1,13]]},"reference":[{"key":"80948_CR1","doi-asserted-by":"publisher","first-page":"2488","DOI":"10.1056\/NEJMoa1408617","volume":"371","author":"S Jaiswal","year":"2014","unstructured":"Jaiswal, S. et al. Age-related clonal hematopoiesis associated with adverse outcomes. N. Engl. J. Med. 371, 2488\u20132498. https:\/\/doi.org\/10.1056\/NEJMoa1408617 (2014).","journal-title":"N. Engl. J. Med."},{"key":"80948_CR2","doi-asserted-by":"publisher","first-page":"2477","DOI":"10.1056\/NEJMoa1409405","volume":"371","author":"G Genovese","year":"2014","unstructured":"Genovese, G. et al. Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. N. Engl. J. Med. 371, 2477\u20132487. https:\/\/doi.org\/10.1056\/NEJMoa1409405 (2014).","journal-title":"N. Engl. J. Med."},{"key":"80948_CR3","doi-asserted-by":"publisher","first-page":"651","DOI":"10.1038\/ng.2270","volume":"44","author":"KB Jacobs","year":"2012","unstructured":"Jacobs, K. B. et al. Detectable clonal mosaicism and its relationship to aging and cancer. Nat. Genet. 44, 651\u2013658. https:\/\/doi.org\/10.1038\/ng.2270 (2012).","journal-title":"Nat. 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Characterization of large structural genetic mosaicism in human autosomes. Am. J. Hum. Genet. 96, 487\u2013497. https:\/\/doi.org\/10.1016\/j.ajhg.2015.01.011 (2015).","journal-title":"Am. J. Hum. Genet."},{"key":"80948_CR7","doi-asserted-by":"publisher","first-page":"350","DOI":"10.1038\/s41586-018-0321-x","volume":"559","author":"PR Loh","year":"2018","unstructured":"Loh, P. R. et al. Insights into clonal haematopoiesis from 8342 mosaic chromosomal alterations. Nature 559, 350\u2013355. https:\/\/doi.org\/10.1038\/s41586-018-0321-x (2018).","journal-title":"Nature"},{"key":"80948_CR8","doi-asserted-by":"publisher","first-page":"911","DOI":"10.1126\/science.aau3879","volume":"362","author":"I Martincorena","year":"2018","unstructured":"Martincorena, I. et al. Somatic mutant clones colonize the human esophagus with age. 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