| Title: | Detectable chromosome X mosaicism in males is rarely tolerated in peripheral leukocytes |
| Journal: | Scientific Reports |
| Published: | 13 Jan 2021 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/33441948/ |
| DOI: | https://doi.org/10.1038/s41598-020-80948-0 |
| URL: | https://www.nature.com/articles/s41598-020-80948-0.pdf |
Publication 4652
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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.</p>
6 Authors
- Weiyin Zhou
- Shu-Hong Lin
- Sairah M. Khan
- Meredith Yeager
- Stephen J. Chanock
- Mitchell J. Machiela
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