Sexual Differentiation - Chromosomal Sex Differences

Chromosomal Sex Differences

Humans have forty-six chromosomes, including two sex chromosomes, XX in females and XY in males. It is obvious that the Y chromosome must carry at least one essential gene which determines testicular formation (originally termed TDF). A gene in the sex-determining region of the short arm of the Y, now referred to as SRY, has been found to direct production of a protein which binds to DNA, inducing differentiation of cells derived from the genital ridges into testes. In transgenic XX mice (and some human XX males), SRY alone is sufficient to induce male differentiation.

Investigation of other cases of human sex reversal (XX males, XY females) has led to discovery of other genes crucial to testicular differentiation on autosomes (e.g., WT-1, SOX9, SF-1), and the short arm of X (DSS).

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