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Gene SRY et anomalies de la determination genetique du sexe chez l’homme

SRY gene and hereditary errors of genetic sex determination in man


Normal sexual development in man is the consequence of a complex process. This review focuses on the translation of genedal sex (XX or XY karyotype) into gonadal sex (testis or ovary). During the last three years attempts to identify and clone the testis determining factor (TDF) have exploited detailed maps of the Y chromosome established by geneticists over the last decade. A candidate gene, named SRY (sex determining region, Y) located at the tip of the short arm of the Y chromosome, shows many characteristics in common with TDF in that it is the sole element of the Y chromosome required for male development. The discovery of TDF led us to analyse sex-reversed individuals, i.e. XX males and XY females, with the aim of constructing a model for the processes regulating the development of an organ as complex as the testis. This SRY gene is now the subject of intense molecular biological effort by various groups, effort which we hope will elucidate the mechanism(s) of sex determination.


La compréhension des mécanismes de détermination du sexe chez l’homme a franchi une étape importante ces trois dernières années. Le gène SRY, localisé sur le chromosome Y, et seul élément nécessaire de ce chromosome au développement mâle, a ainsi pu être isolé. De nombreux critères permettent aujour ’hui de l’assimiler au facteur TDF (ou „testis determining factor”). Par l’étude des propriétés de la protéine SRY et par l’étude d’autres formes d’ambiguités sexuelles, on espère aujourd’hui pouvoir progresser dans la reconstitution de la cascade conduisant à la formation d’un organe aussi complexe que le testicule. On conçoit le formidable challenge que cette recherche constitue dans le domaine de la biologie du développement


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Poulat, F., Goze, C., Boizet, B. et al. Gene SRY et anomalies de la determination genetique du sexe chez l’homme. Androl. 2, 50–52 (1992).

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