Title: The Molecular Genetics of Sex Determination and Sex Reversal in Mammals
Abstract: The process of sex determination in mammals normally unfolds in three distinct stages: (1) establishment of chromosomal sex at fertilization (XX or XY); (2) commitment to the appropriate pathway of gonadal differentiation with respect to chromosomal sex, through the action (or absence) of the Y chromosome gene <i>SRY</i>; and (3) correct development of secondary sexual characteristics, including internal and external genitalia, in accordance with gonadal sex. At any of these three steps, the process of sex determination can go awry, leading to disorders of sexual development. In this article, we review the typical mechanism and process of mammalian sex determination, with an emphasis on the well-characterized mouse and human models. We also consider aberrant mammalian sex determination, focusing on examples of sex reversal stemming from gene defects.
Publication Year: 2012
Publication Date: 2012-10-08
Language: en
Type: review
Indexed In: ['crossref', 'pubmed']
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Cited By Count: 65
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