title: Sex determination in humans.
abstract: In mammals, the Y chromosome induces testis formation and thus male sexual development; in the absence of a Y chromosome, gonads differentiate into ovaries and female development ensues. Molecular genetic studies have identified the Y-located testis determining gene SRY as well as autosomal and X-linked genes necessary for gonadal development. The phenotypes resulting from mutation of these genes, together with their patterns of expression, provide the basis for establishing a hierarchy of genes and their interactions in the mammalian sex determination pathway.
authors.affiliation: Department of Genetics, University of Cambridge, UK.
authors.forename: A J
authors.initials: AJ
authors.lastname: Schafer
authors.forename: P N
authors.initials: PN
authors.lastname: Goodfellow
mesh_terms: D000818:Animals; D005075:Biological Evolution; D004268:DNA-Binding Proteins / Q000235:genetics / Q000378:metabolism; D012734:Disorders of Sex Development; D005260:Female; D006801:Humans; D008297:Male; D008322:Mammals / Q000235:genetics; D009687:Nuclear Proteins; D010053:Ovary; D010641:Phenotype; D000072260:RNA Splicing Factors; D016601:RNA-Binding Proteins / Q000235:genetics; D012727:Sex Characteristics; D012732:Sex Determination Analysis; D051876:Sex-Determining Region Y Protein; D013737:Testis; D014157:Transcription Factors / Q000235:genetics; D025721:WT1 Proteins; D014960:X Chromosome; D014998:Y Chromosome
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D000072260:RNA Splicing Factors; D016601:RNA-Binding Proteins; C107467:SF1 protein, human; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D025721:WT1 Proteins