The human Y chromosome: a masculine chromosome

Curr Opin Genet Dev. 2006 Jun;16(3):225-32. doi: 10.1016/j.gde.2006.04.018. Epub 2006 May 2.


Once considered to be a genetic wasteland of no scientific interest beyond sex determination, the human Y chromosome has made a significant comeback in the past few decades and is currently implicated in multiple diseases, including spermatogenic failure - absent or very low levels of sperm production. The Y chromosome contains over one hundred testis-specific transcripts, and several deletions have been described that remove some of these transcripts, thereby causing spermatogenic failure. Screening for such deletions in infertile men is now a standard part of clinical evaluation. Many other Y-chromosome structural variants, some of which affect gene copy number, have been reported recently, and future research will be necessary to address the phenotypic effect of these structural variants.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Base Sequence
  • Chromosomes, Human, Y / genetics*
  • Gene Deletion
  • Genetic Loci
  • Genetic Variation / genetics
  • Humans
  • Male
  • Phenotype
  • Seminal Plasma Proteins / genetics


  • Seminal Plasma Proteins