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

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....

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Autores principales: Zhou, Weiyin, Lin, Shu-Hong, Khan, Sairah M., Yeager, Meredith, Chanock, Stephen J., Machiela, Mitchell J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7806852/
https://www.ncbi.nlm.nih.gov/pubmed/33441948
http://dx.doi.org/10.1038/s41598-020-80948-0
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author Zhou, Weiyin
Lin, Shu-Hong
Khan, Sairah M.
Yeager, Meredith
Chanock, Stephen J.
Machiela, Mitchell J.
author_facet Zhou, Weiyin
Lin, Shu-Hong
Khan, Sairah M.
Yeager, Meredith
Chanock, Stephen J.
Machiela, Mitchell J.
author_sort Zhou, Weiyin
collection PubMed
description 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.
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spelling pubmed-78068522021-01-14 Detectable chromosome X mosaicism in males is rarely tolerated in peripheral leukocytes Zhou, Weiyin Lin, Shu-Hong Khan, Sairah M. Yeager, Meredith Chanock, Stephen J. Machiela, Mitchell J. Sci Rep Article 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. Nature Publishing Group UK 2021-01-13 /pmc/articles/PMC7806852/ /pubmed/33441948 http://dx.doi.org/10.1038/s41598-020-80948-0 Text en © This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply 2021 https://creativecommons.org/licenses/by/4.0/ Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Article
Zhou, Weiyin
Lin, Shu-Hong
Khan, Sairah M.
Yeager, Meredith
Chanock, Stephen J.
Machiela, Mitchell J.
Detectable chromosome X mosaicism in males is rarely tolerated in peripheral leukocytes
title 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_short 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
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7806852/
https://www.ncbi.nlm.nih.gov/pubmed/33441948
http://dx.doi.org/10.1038/s41598-020-80948-0
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