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.

Details

Title
Detectable chromosome X mosaicism in males is rarely tolerated in peripheral leukocytes
Author
Zhou, Weiyin 1 ; Shu-Hong, Lin 2 ; Khan, Sairah M 2 ; Yeager, Meredith 1 ; Chanock, Stephen J 2 ; Machiela, Mitchell J 2 

 National Cancer Institute, Division of Cancer Epidemiology and Genetics, Rockville, USA (GRID:grid.48336.3a) (ISNI:0000 0004 1936 8075); Frederick National Laboratory for Cancer Research, Cancer Genomics Research Laboratory, Rockville, USA (GRID:grid.418021.e) (ISNI:0000 0004 0535 8394) 
 National Cancer Institute, Division of Cancer Epidemiology and Genetics, Rockville, USA (GRID:grid.48336.3a) (ISNI:0000 0004 1936 8075) 
Publication year
2021
Publication date
2021
Publisher
Nature Publishing Group
e-ISSN
20452322
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2477375674
Copyright
© The Author(s) 2021. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.