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1: Pediatr Endocrinol Rev. 2004 Mar;1(3):274-87.

Molecular aspects of female and male gonadal development in mammals.

Pannetier M, Mandon-Pépin B, Copelli S, Fellous M.

Unité Biologie du Développement et Reproduction, INRA, Jouy en Josas, France.

In mammals, the choice between male or female development is genetically
determined. Sex determination takes place when the embryonic gonad becomes either
a testis or an ovary. This process is directed by genes that have been discovered
by genetic analysis of sex-reversed patients and confirmed by knock-out
experiments in mice. The testis-determining pathway is better known than the
ovary pathway. SRY, a gene located on the Y chromosome, triggers a complex
genetic cascade leading to testicular differentiation. In this cascade, two genes
play a crucial role in male differentiation, SOX9 and FGF9, which contribute to
testicular cord formation. However, only a minority of 46,XY sex-reversed
patients can be explained by mutations in known genes such as SRY, SOX9, WT1 and 
SF1, suggesting that other genes influencing sex determination are yet to be
discovered. In females, some rare genes that induce ovarian failure or
female-to-male sex-reversal, have been found through gene-targeted inactivation
in mice or positional cloning of mutations in humans and goats. In both sexes,
genetic analysis of sex-reversed individuals (XX males, XX and XY hermaphrodites 
and XY with complete or partial dysgenesis) remains an approach of choice to
isolate new genes involved in sex determination.

PMID: 16437021 [PubMed - indexed for MEDLINE]

Related Links

    Molecular genetics of sex determination. [Semin Reprod Med. 2002] PMID:12428196

    Genetics of sexual development. [Annu Rev Sex Res. 2000] PMID:11351829

    SRY protein is expressed in ovotestis and streak gonads from human sex-reversal. 
[Cytogenet Cell Genet. 2000] PMID:11173859

    Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed
patients. [Braz J Med Biol Res. 2004] PMID:14689056

    Sex determination and sex reversal: genotype, phenotype, dogma and semantics.
[Hum Genet. 1992] PMID:1634224

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