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Title: Detectable chromosome X mosaicism in males is rarely tolerated in peripheral leukocytes.
Authors: Zhou W,  Lin SH,  Khan SM,  Yeager M,  Chanock SJ,  Machiela MJ
Journal: Sci Rep
Date: 2021 Jan 13
Branches: CGR, ITEB, LGS, OD
PubMed ID: 33441948
PMC ID: PMC7806852
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.