Genomics and genetics of human and primate y chromosomes

Annu Rev Genomics Hum Genet. 2012:13:83-108. doi: 10.1146/annurev-genom-090711-163855. Epub 2012 Apr 5.


In mammals, the Y chromosome plays the pivotal role in male sex determination and is essential for normal sperm production. Yet only three Y chromosomes have been completely sequenced to date--those of human, chimpanzee, and rhesus macaque. While Y chromosomes are notoriously difficult to sequence owing to their highly repetitive genomic landscapes, these dedicated sequencing efforts have generated tremendous yields in medical, biological, and evolutionary insight. Knowledge of the complex structural organization of the human Y chromosome and a complete catalog of its gene content have provided a deeper understanding of the mechanisms that generate disease-causing mutations and large-scale rearrangements. Variation among human Y-chromosome sequences has been an invaluable tool for understanding relationships among human populations. Comprehensive comparisons of the human Y-chromosome sequence with those of other primates have illuminated aspects of Y-chromosome evolutionary dynamics over much longer timescales (>25 million years compared with 100,000 years). The future sequencing of additional Y chromosomes will provide a basis for a more comprehensive understanding of the evolution of Y chromosomes and their roles in reproductive biology.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Chromosome Mapping
  • Chromosomes, Human, Y / genetics*
  • Evolution, Molecular
  • Genes, sry
  • Heterochromatin / genetics
  • Humans
  • Infertility, Male / genetics
  • Male
  • Models, Genetic
  • Mutation
  • Sequence Analysis, DNA
  • Spermatogenesis / genetics


  • Heterochromatin