Mosaic_loss_of_chromosome_Y

Mosaic loss of chromosome Y

Mosaic loss of chromosome Y

Medical condition


Mosaic loss of chromosome Y (mLOY) also known as loss of chromosome Y (LOY) occurs to many men in some cells due to aging. Instead of the expected 46,XY karyotype, the affected cells have a 45,X karyotype due to the loss of the Y chromosome.[1]

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Discovery

The occurrence of LOY was discovered in 1963.[2]

Risk factors

"Age, genetic variants, ChrY structural aberrations and environmental stressors" such as smoking tobacco are all risk factors for developing LOY.[1][3] The prevalence increases exponentially with age[3] and more than 40 percent of men over 70 are affected.[1] Unlike loss of autosomal chromosomes, loss of sex chromosomes except the one active X chromosome does not typically cause cell death. Elderly women also experience mosaic loss of chromsome X, but it is less common than LOY.[1]

Health implications

LOY in a small proportion of leukocytes (white blood cells) has been associated with a number of diseases such as cancer, Alzheimer's disease, and cardiovascular disease. Why this is the case is not understood.[4] LOY can also occur in cells of the buccal mucosa and dorsolateral prefrontal cortex.[3]


References

  1. Fukami, Maki; Miyado, Mami (January 2022). "Mosaic loss of the Y chromosome and men's health". Reproductive Medicine and Biology. 21 (1): e12445. doi:10.1002/rmb2.12445. PMC 8967293. PMID 35386373.
  2. Guo, Xihan; Dai, Xueqin; Zhou, Tao; Wang, Han; Ni, Juan; Xue, Jinglun; Wang, Xu (2020). "Mosaic loss of human Y chromosome: what, how and why". Human Genetics. 139 (4): 421–446. doi:10.1007/s00439-020-02114-w. PMID 32020362. S2CID 211036885.
  3. Lau, Yun-Fai Chris (13 August 2020). "Y chromosome in health and diseases". Cell & Bioscience. 10 (1): 97. doi:10.1186/s13578-020-00452-w. ISSN 2045-3701. PMC 7427063. PMID 32817785.

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