Male-driven evolution of DNA sequences

Nature. 1993 Apr 22;362(6422):745-7. doi: 10.1038/362745a0.


It is commonly believed that the mutation rate is much higher in the human male germ line than in the female germ line because the number of germ-cell divisions per generation is much larger in males than in females. But direct estimation of mutation rates is difficult, relying mainly on sex-linked genetic diseases, so the ratio (alpha m) of male to female mutation rates is not clear. It has been noted that if alpha m is very large, then the rate of synonymous substitution in X-linked genes should be only 2/3 of that in autosomal genes, and comparison of human and rodent genes supported this prediction. As the number of X-linked genes used in the study was small and the X-linked and autosomal sequences were non-homologous, and given that the synonymous rate varies among genes, we sequenced the last intron (approximately 1 kb) of the Y-linked and X-linked zinc-finger-protein genes (ZFY and ZFX) in humans, orang-utans, baboons and squirrel monkeys. The ratio Y/X of the substitution rate in the Y-linked intron to that in the X-linked intron is approximately 2.3, which is close to that estimated from synonymous rates in the ZFY and ZFX genes and implies alpha m approximately 6. This estimate of alpha m supports the view that the evolution of DNA sequences in higher primates is male-driven. It is, however, much lower than the previous estimate and therefore raises a number of issues.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Base Sequence
  • Biological Evolution*
  • DNA
  • DNA-Binding Proteins / genetics*
  • Female
  • Humans
  • Kruppel-Like Transcription Factors
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Papio
  • Pongo pygmaeus
  • Saimiri
  • Sequence Homology, Nucleic Acid
  • Sex Factors
  • Transcription Factors
  • X Chromosome
  • Y Chromosome
  • Zinc Fingers / genetics


  • DNA-Binding Proteins
  • Kruppel-Like Transcription Factors
  • Transcription Factors
  • ZFY protein, human
  • zinc finger protein, X-linked
  • DNA

Associated data

  • GENBANK/X58925
  • GENBANK/X58926
  • GENBANK/X58930
  • GENBANK/X58931
  • GENBANK/X58932
  • GENBANK/X58935
  • GENBANK/X58936
  • GENBANK/X72698