Conserved synteny between the chicken Z sex chromosome and human chromosome 9 includes the male regulatory gene DMRT1: a comparative (re)view on avian sex determination

Cytogenet Cell Genet. 2000;89(1-2):67-78. doi: 10.1159/000015567.

Abstract

Sex-determination mechanisms in birds and mammals evolved independently for more than 300 million years. Unlike mammals, sex determination in birds operates through a ZZ/ZW sex chromosome system, in which the female is the heterogametic sex. However, the molecular mechanism remains to be elucidated. Comparative gene mapping revealed that several genes on human chromosome 9 (HSA 9) have homologs on the chicken Z chromosome (GGA Z), indicating the common ancestry of large parts of GGA Z and HSA 9. Based on chromosome homology maps, we isolated a Z-linked chicken ortholog of DMRT1, which has been implicated in XY sex reversal in humans. Its location on the avian Z and within the sex-reversal region on HSA 9p suggests that DMRT1 represents an ancestral dosage-sensitive gene for vertebrate sex-determination. Z dosage may be crucial for male sexual differentiation/determination in birds.

Publication types

  • Comparative Study

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Chickens / genetics*
  • Chromosomes, Human, Pair 9 / genetics*
  • Cloning, Molecular
  • Conserved Sequence / genetics*
  • Dosage Compensation, Genetic
  • Evolution, Molecular
  • Female
  • Gene Dosage
  • Genes / genetics
  • Genetic Linkage / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Male
  • Molecular Sequence Data
  • Physical Chromosome Mapping
  • Sequence Alignment
  • Sex Characteristics
  • Sex Chromosomes / genetics*
  • Sex Determination Processes*
  • Transcription Factors / chemistry
  • Transcription Factors / genetics*

Substances

  • DMRT1 protein
  • Transcription Factors