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Losing maleness: Somatic Y chromosome loss at every stage of a man's life

Mami Miyado1, Maki Fukami1

  • 1Department of Molecular Endocrinology National Research Institute for Child Health and Development Tokyo Japan.

FASEB Bioadvances
|March 4, 2020
PubMed

Insights

Mosaic loss of Y chromosome (LOY) is a common genetic variation. It can affect men at any age, impacting development, fertility, and survival, not just in the elderly.

Area of Science:

  • Genetics
  • Human Biology
  • Aging Research

Background:

  • Mosaic loss of Y chromosome (LOY) is a prevalent acquired genetic variation, primarily studied in elderly populations.
  • Emerging evidence links aging-related mosaic LOY to increased risks of Alzheimer's disease, cancer, and premature mortality.
  • The full spectrum of mosaic LOY's impact across different life stages remains incompletely understood.

Purpose of the Study:

  • To investigate the presence and clinical significance of mosaic loss of Y chromosome (LOY) in men across all age groups.
  • To explore the association of mosaic LOY with various health conditions from birth through reproductive age and into older adulthood.
  • To broaden the understanding of mosaic LOY beyond its established link to aging.

Main Methods:

  • Review of existing literature and case studies on mosaic LOY.
  • Analysis of genetic data from diverse age cohorts.
  • Correlation of mosaic LOY presence with diagnosed conditions and survival data.

Main Results:

  • Mosaic loss of Y chromosome (LOY) is not exclusive to the elderly and can be detected in men of all ages.
  • Early-onset associations include disorders of sex development and Turner syndrome.
  • Mosaic LOY is linked to childhood short stature, spermatogenic failure in reproductive-aged men, and reduced survival post-60 years.

Conclusions:

  • Mosaic loss of Y chromosome (LOY) is a significant genetic factor with implications throughout a man's lifespan.
  • Recognizing mosaic LOY across all ages is crucial for diagnosing and managing associated health conditions.
  • Further research is warranted to elucidate the mechanisms and comprehensive clinical impact of mosaic LOY.
Keywords:
Turner syndromeY chromosomeinfertilitykaryotypesomatic mosaicism

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