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 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.

SUBMITTER: Zhou W 

PROVIDER: S-EPMC7806852 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature