title: Primate DAX1, SRY, and SOX9: evolutionary stratification of sex-determination pathway.
abstract: The molecular evolution of DAX1, SRY, and SOX9, genes involved in mammalian sex determination, was examined in six primate species. DAX1 and SRY have been added to the X and Y chromosomes, respectively, during mammalian evolution, whereas SOX9 remains autosomal. We determined the genomic sequences of DAX1, SRY, and SOX9 in all six species, and calculated K(a), the number of nonsynonymous substitutions per nonsynonymous site, and compared this with the K(s), the number of synonymous substitutions per synonymous site. Phylogenetic trees were constructed by means of the DAX1, SRY, and SOX9 coding sequences, and phylogenetic analysis was performed using maximum likelihood. Overall measures of gene and protein similarity were closer for DAX1 and SOX9, but DAX1 exhibited nonsynonymous amino acid substitutions at an accelerated frequency relative to synonymous changes, similar to SRY and significantly higher than SOX9. We conclude that, at the protein level, DAX1 and SRY are under less selective pressure to remain conserved than SOX9, and, therefore, diverge more across species than does SOX9. These results are consistent with evolutionary stratification of the mammalian sex determination pathway, analogous to that for sex chromosomes.
authors: Department of Physiological Science, University of California Los Angeles, Los Angeles, CA 90095, USA.
authors: M
authors: M
authors: Patel
authors: K S
authors: KS
authors: Dorman
authors: Y H
authors: YH
authors: Zhang
authors: B L
authors: BL
authors: Huang
authors: A P
authors: AP
authors: Arnold
authors: J S
authors: JS
authors: Sinsheimer
authors: E
authors: E
authors: Vilain
authors: E R
authors: ER
authors: McCabe
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution / Q000235:genetics; D000818:Animals; D017124:Conserved Sequence / Q000235:genetics; D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000235:genetics*; D019143:Evolution, Molecular; D014644:Genetic Variation / Q000235:genetics; D006609:High Mobility Group Proteins / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D016013:Likelihood Functions; D008969:Molecular Sequence Data; D016296:Mutagenesis / Q000235:genetics; D009687:Nuclear Proteins; D010802:Phylogeny; D011323:Primates / Q000145:classification / Q000235:genetics*; D018168:Receptors, Retinoic Acid / Q000737:chemistry / Q000235:genetics*; D012097:Repressor Proteins; D055758:SOX9 Transcription Factor; D012641:Selection, Genetic; D016415:Sequence Alignment; D019849:Sex Determination Processes; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics*
chemical_list: D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins; D006609:High Mobility Group Proteins; C539965:NR0B1 protein, human; D009687:Nuclear Proteins; D018168:Receptors, Retinoic Acid; D012097:Repressor Proteins; D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors