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Chromosome Y genetic variants: Impact in animal models and on human disease

Physiological Genomics, ISSN: 1531-2267, Vol: 47, Issue: 11, Page: 525-537
2015
  • 31
    Citations
  • 0
    Usage
  • 43
    Captures
  • 1
    Mentions
  • 14
    Social Media
Metric Options:   Counts1 Year3 Year

Metrics Details

  • Citations
    31
  • Captures
    43
  • Mentions
    1
    • News Mentions
      1
      • 1
  • Social Media
    14
    • Shares, Likes & Comments
      14
      • Facebook
        14

Most Recent News

Y chromosome loss in cancer drives growth by evasion of adaptive immunity

Nature, Published online: 21 June 2023; doi:10.1038/s41586-023-06234-x Loss of the Y chromosome in tumour cells is associated with a poor prognosis for patients with bladder cancer by causing local T cell exhaustion, which also increases the response to immune checkpoint blockade therapy.

Review Description

Chromosome Y (chrY) variation has been associated with many complex diseases ranging from cancer to cardiovascular disorders. Functional roles of chrY genes outside of testes are suggested by the fact that they are broadly expressed in many other tissues and correspond to regulators of basic cellular functions (such as transcription, translation, and protein stability). However, the unique genetic properties of chrY (including the lack of meiotic crossover and the presence of numerous highly repetitive sequences) have made the identification of causal variants very difficult. Despite the prior lack of reliable sequences and/or data on genetic polymorphisms, earlier studies with animal chrY consomic strains have made it possible to narrow down the phenotypic contributions of chrY. Some of the evidence so far indicates that chrY gene variants associate with regulatory changes in the expression of other autosomal genes, in part via epigenetic effects. In humans, a limited number of studies have shown associations between chrY haplotypes and disease traits. However, recent sequencing efforts have made it possible to greatly increase the identification of genetic variants on chrY, which promises that future association of chrY with disease traits will be further refined. Continuing studies (both in humans and in animal models) will be critical to help explain the many sex-biased disease states in human that are contributed to not only by the classical sex steroid hormones, but also by chrY genetics.

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