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Disorders of Sexual Differentiation
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=== Normal Genotypic Development === * '''Chromosomal Sex''' ** '''SRY (sex-determining region Y gene)''' *** '''An evolutionarily conserved gene on the Y chromosome of mammals''' *** '''On the short arm of the Y chromosome near the centromere, adjacent to the pseudoautosomal boundary''' *** '''Specifies development of the testis (testis-determining factor);''' '''responsible for maleness''' *** '''SRY protein functions:''' **** '''A transcription factor that, by binding and producing bending of the DNA, promotes protein-protein interaction and activates downstream gene expression''' ***** '''SRY protein has a characteristic high-mobility group (HMG), DNA-binding domain that can induce significant DNA binding when bound to the regulatory regions of target genes''' **** '''Supporting cells of the developing male urogenital ridge.''' ***** '''These cells participate in cord formation and''' '''ultimately develop into Sertoli cells.''' *** '''SRY expression leads to induction of SOX (SRY box-related) 9, a subfamily of closely related genes, during gonadal differentiation''' * '''Additional Genes Involved in Gonadal Determination''' ** '''Duplication of an X-specific gene causes XY sex reversal by expressing a double dose of a region normally subject to X inactivation. This region is designated as the dosage-sensitive sex (DSS) reversal critical region'''
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