Original Contribution

Mammalian Genome

, Volume 8, Issue 2, pp 134-138

First online:

Analysis of mutation rates in the SMCY/SMCX genes shows that mammalian evolution is male driven

  • A. I. AgulnikAffiliated withDepartment of Obstetrics and Gynecology, Baylor College of Medicine
  • , C. E. BishopAffiliated withDepartment of Obstetrics and Gynecology, Baylor College of MedicineDepartment of Human and Molecular Genetics, Baylor College of Medicine
  • , J. L. LernerAffiliated withDepartment of Obstetrics and Gynecology, University of Tennessee
  • , S. I. AgulnikAffiliated withDepartment of Molecular Biology, Princeton University
  • , V. V. SolovyevAffiliated withDepartment of Cell Biology, Baylor College of Medicine

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Mammalian evolution is believed to be male driven because the greater number of germ cell divisions per generation in males increases the opportunity for errors in DNA replication. Since the Y Chromosome (Chr) replicates exclusively in males, its genes should also evolve faster than X or autosomal genes. In addition, estimating the overall male-to-female mutation ratio (αm) is of great importance as a large αm implies that replication-independent mutagenic events play a relatively small role in evolution. A small αm suggests that the impact of these factors may, in fact, be significant. In order to address this problem, we have analyzed the rates of evolution in the homologous X-Y common SMCX/SMCY genes from three different species—mouse, human, and horse. The SMC genes were chosen because the X and Y copies are highly homologous, well conserved in evolution, and in all probability functionally interchangeable. Sequence comparisons and analysis of synonymous substitutions in approximately 1kb of the 5′ coding region of the SMC genes reveal that the Y-linked copies are evolving approximately 1.8 times faster than their X homologs. The male-to-female mutation ratio αm was estimated to be 3. These data support the hypothesis that mammalian evolution is male driven. However, the ratio value is far smaller than suggested in earlier works, implying significance of replication-independent mutagenic events in evolution.