Genetic diversity on the sex chromosomes

Research output: Contribution to journalReview articlepeer-review

62 Scopus citations


Levels and patterns of genetic diversity can provide insights into a population's history. In species with sex chromosomes, differences between genomic regions with unique inheritance patterns can be used to distinguish between different sets of possible demographic and selective events. This review introduces the differences in population history for sex chromosomes and autosomes, provides the expectations for genetic diversity across the genome under different evolutionary scenarios, and gives an introductory description for how deviations in these expectations are calculated and can be interpreted. Predominantly, diversity on the sex chromosomes has been used to explore and address three research areas: 1) Mating patterns and sex-biased variance in reproductive success, 2) signatures of selection, and 3) evidence for modes of speciation and introgression. After introducing the theory, this review catalogs recent studies of genetic diversity on the sex chromosomes across species within the major research areas that sex chromosomes are typically applied to, arguing that there are broad similarities not only between male-heterogametic (XX/XY) and female-heterogametic (ZZ/ZW) sex determination systems but also any mating system with reduced recombination in a sex-determining region. Further, general patterns of reduced diversity in nonrecombining regions are shared across plants and animals. There are unique patterns across populations with vastly different patterns of mating and speciation, but these do not tend to cluster by taxa or sex determination system.

Original languageEnglish (US)
Pages (from-to)1064-1078
Number of pages15
JournalGenome biology and evolution
Issue number4
StatePublished - Apr 1 2018


  • Demography
  • Diversity
  • Female heterogamety
  • Male heterogamety
  • Natural selection
  • U/V sex determination

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Genetics


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