New uses for new haplotypes the human Y chromosome, disease and selection

Trends Genet. 2000 Aug;16(8):356-62. doi: 10.1016/s0168-9525(00)02057-6.


Recent discoveries of many new genes have made it clear that there is more to the human Y chromosome than a heap of evolutionary debris, hooked up to a sequence that happens to endow its bearer with testes. Coupled with the recent development of new polymorphic markers on the Y, making it the best-characterized haplotypic system in the genome, this gives us new opportunities to assess its role in disease and selection, through association studies with phenotypes such as infertility and cancers. However, the peculiar genetics of this bizarre chromosome means that we should interpret such studies particularly cautiously.

Publication types

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

MeSH terms

  • Biological Evolution
  • Genetic Variation
  • Haplotypes / genetics*
  • Humans
  • Male
  • Phenotype
  • Selection, Genetic
  • Y Chromosome*