Sry and Sox9: mammalian testis-determining genes.
Sry is the Y-chromosomal gene that acts as a trigger for male development in mammalian embryos. This gene encodes a high mobility group (HMG) box transcription factor that is known to bind to specific target sequences in DNA and to cause a bend in the chromatin. DNA bending appears to be part of the mechanism by which Sry influences transcription of genes downstream in a cascade of gene regulation leading to maleness, but the direct targets of Sry remain to be positively identified. One gene known to be downstream from Sry in this cascade is Sox9, which encodes a transcription factor related to Sry by the HMG box. Like Sry, mutations in Sox9 disrupt male development, but unlike Sry, the role of Sox9 is not limited to mammals. This review focuses on what is known about the two genes and their likely modes of action, and draws together recent data relating to how they might interconnect with the network of gene activity implicated in testis determination in mammals.
Centre for Molecular and Cellular Biology, University of Queensland, Brisbane, Australia. p.koopman@cmcb.uq.edu.au
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D000595:Amino Acid Sequence; D000818:Animals; D002467:Cell Nucleus / Q000378:metabolism; D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000502:physiology; D012734:Disorders of Sex Development / Q000196:embryology / Q000235:genetics; D019143:Evolution, Molecular; D005260:Female; D051717:Fushi Tarazu Transcription Factors; D018507:Gene Expression Regulation, Developmental; D005809:Genes, Regulator; D016162:Genes, Wilms Tumor; D006609:High Mobility Group Proteins / Q000235:genetics* / Q000502:physiology; D018398:Homeodomain Proteins; D006801:Humans; D008297:Male; D008322:Mammals / Q000196:embryology / Q000235:genetics*; D051379:Mice; D008822:Mice, Transgenic; D008969:Molecular Sequence Data; D009687:Nuclear Proteins; D010766:Phosphorylation; D011499:Protein Processing, Post-Translational; D018160:Receptors, Cytoplasmic and Nuclear; D018168:Receptors, Retinoic Acid / Q000235:genetics / Q000502:physiology; D012045:Regulatory Sequences, Nucleic Acid; D012097:Repressor Proteins; D055758:SOX9 Transcription Factor; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D012733:Sex Differentiation / Q000235:genetics; D051876:Sex-Determining Region Y Protein; D054339:Steroidogenic Factor 1; D013737:Testis / Q000196:embryology*; D014157:Transcription Factors / Q000235:genetics* / Q000502:physiology; D014158:Transcription, Genetic; D014566:Urogenital System / Q000196:embryology; D025721:WT1 Proteins; D014998:Y Chromosome / Q000235:genetics
D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins; D051717:Fushi Tarazu Transcription Factors; D006609:High Mobility Group Proteins; D018398:Homeodomain Proteins; C539965:NR0B1 protein, human; C539966:Nr0b1 protein, mouse; D009687:Nuclear Proteins; D018160:Receptors, Cytoplasmic and Nuclear; 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; C527933:Sox9 protein, mouse; C497746:Sry protein, mouse; D054339:Steroidogenic Factor 1; D014157:Transcription Factors; D025721:WT1 Proteins