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

Sci Rep. 2021 Jan 13;11(1):1193. doi: 10.1038/s41598-020-80948-0.

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.

Publication types

  • Research Support, N.I.H., Intramural

MeSH terms

  • Adult
  • Aged
  • Chromosomes, Human, X / genetics*
  • Chromosomes, Human, Y / genetics
  • Genes, X-Linked / genetics
  • Humans
  • Leukocytes / physiology*
  • Male
  • Middle Aged
  • Mosaicism
  • Sex Chromosome Aberrations