Sex determination and the Y chromosome.
Although SRY was first identified 10 years ago, we still know remarkably little about its mode of action or downstream target genes. Recently, potential protein partners have been identified and there has been considerable activity to understand the roles of WT1, SF-1, DAX-1 and SOX9 in gonadogenesis. The emerging picture is one of complex interactions, involving both positive and negative regulatory signals that, depending on the cellular and promoter context, drive the expression of male-specific genes. Despite recent advances, however, we are still unable to explain the genetic cause of most cases of 46,XY gonadal dysgenesis or even a single case of Y-chromosome-negative 46,XX maleness.
McElreavey
K
K
Immunogenetique Humaine, Institut Pasteur, 25 rue du Dr Roux 75724 Paris Cedex 15, France. kenmce@pasteur.fr
Fellous
M
M
D000818:Animals; D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins / Q000235:genetics; D012734:Disorders of Sex Development; D029721:Drosophila Proteins; D005260:Female; D051717:Fushi Tarazu Transcription Factors; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics; D006609:High Mobility Group Proteins / Q000235:genetics; D018398:Homeodomain Proteins; D006801:Humans; D008297:Male; D051379:Mice; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D018160:Receptors, Cytoplasmic and Nuclear; D018168:Receptors, Retinoic Acid / Q000235:genetics; D012097:Repressor Proteins; D055758:SOX9 Transcription Factor; D019849:Sex Determination Processes; D054339:Steroidogenic Factor 1; D013737:Testis / Q000196:embryology* / Q000254:growth & development / Q000378:metabolism; D014157:Transcription Factors / Q000235:genetics*; D025721:WT1 Proteins; D014998:Y Chromosome / Q000235:genetics*
D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins; D029721:Drosophila Proteins; D051717:Fushi Tarazu Transcription Factors; D006609:High Mobility Group Proteins; D018398:Homeodomain Proteins; C539965:NR0B1 protein, human; C539966:Nr0b1 protein, mouse; D018160:Receptors, Cytoplasmic and Nuclear; D018168:Receptors, Retinoic Acid; D012097:Repressor Proteins; D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human; C527933:Sox9 protein, mouse; C090567:Sry-delta protein, Drosophila; D054339:Steroidogenic Factor 1; D014157:Transcription Factors; D025721:WT1 Proteins; C109450:PRKX protein, human; C109449:PRKY protein, human; D017346:Protein Serine-Threonine Kinases