Detectable chromosome X mosaicism in males is rarely tolerated in peripheral leukocytes

Abstract Age-related male Y and female X chromosome mosaicism is commonly observed in large population-based studies. 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 Biob...

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Autores principales:	Weiyin Zhou, Shu-Hong Lin, Sairah M. Khan, Meredith Yeager, Stephen J. Chanock, Mitchell J. Machiela
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/634c6609fe704b83b463c441311a0caf
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spelling	oai:doaj.org-article:634c6609fe704b83b463c441311a0caf2021-12-02T15:23:10ZDetectable chromosome X mosaicism in males is rarely tolerated in peripheral leukocytes10.1038/s41598-020-80948-02045-2322https://doaj.org/article/634c6609fe704b83b463c441311a0caf2021-01-01T00:00:00Zhttps://doi.org/10.1038/s41598-020-80948-0https://doaj.org/toc/2045-2322Abstract Age-related male Y and female X chromosome mosaicism is commonly observed in large population-based studies. 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 ≥ 2 Mb 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.Weiyin ZhouShu-Hong LinSairah M. KhanMeredith YeagerStephen J. ChanockMitchell J. MachielaNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-5 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Weiyin Zhou Shu-Hong Lin Sairah M. Khan Meredith Yeager Stephen J. Chanock Mitchell J. Machiela Detectable chromosome X mosaicism in males is rarely tolerated in peripheral leukocytes
description	Abstract Age-related male Y and female X chromosome mosaicism is commonly observed in large population-based studies. 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 ≥ 2 Mb 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.
format	article
author	Weiyin Zhou Shu-Hong Lin Sairah M. Khan Meredith Yeager Stephen J. Chanock Mitchell J. Machiela
author_facet	Weiyin Zhou Shu-Hong Lin Sairah M. Khan Meredith Yeager Stephen J. Chanock Mitchell J. Machiela
author_sort	Weiyin Zhou
title	Detectable chromosome X mosaicism in males is rarely tolerated in peripheral leukocytes
title_short	Detectable chromosome X mosaicism in males is rarely tolerated in peripheral leukocytes
title_full	Detectable chromosome X mosaicism in males is rarely tolerated in peripheral leukocytes
title_fullStr	Detectable chromosome X mosaicism in males is rarely tolerated in peripheral leukocytes
title_full_unstemmed	Detectable chromosome X mosaicism in males is rarely tolerated in peripheral leukocytes
title_sort	detectable chromosome x mosaicism in males is rarely tolerated in peripheral leukocytes
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/634c6609fe704b83b463c441311a0caf
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_version_	1718387268242112512

Detectable chromosome X mosaicism in males is rarely tolerated in peripheral leukocytes

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