SRY protein is expressed in ovotestis and streak gonads from human sex-reversalSalas-Cortés L.a · Jaubert F.b · Nihoul-Feketé C.c · Brauner R.d · Rosemblatt M.e · Fellous M.a
aLaboratoire d’Immunogénétique Humaine, INSERM E0021, Institut Pasteur, Paris (France); bLaboratoire d’Anatomopathologie, Hôpital Necker-Enfant Malades, Paris (France); cService de Chirurgie Pediatrique, Hôpital Necker-Enfant Malades, Paris, (France); dService d’Endocrinologie Pediatrique, Hôpital Necker-Enfant Malades, Paris (France): and eFundación Ciencia para la Vida and MIFAB, Santiago (Chile)
In mammals, a master gene located on the Y chromosome, the testis-determining gene SRY, controls sex determination. SRY protein is expressed in the genital ridge before testis determination, and in the testis it is expressed in Sertoli and germ cells. Completely sex-reversed patients are classified as either 46,XX males or 46,XY females. SRY mutations have been described in only 15% of patients with 46,XY complete or partial gonadal dysgenesis. However, although incomplete or partial sex-reversal affects 46,XX true hermaphrodites, 46,XY gonadal dysgenesis, and 46,XX/46,XY mosaicism, only 15% of the 46,XX true hermaphrodites analyzed have the SRY gene. Here, we demonstrate that the SRY protein is expressed in the tubules of streak gonads and rete testis, indicating that the SRY protein is normally expressed early during testis determination. Based on these results, we propose that some factors downstream from SRY may be mutated in these 46,XY sex-reversal patients. We have also analyzed SRY protein expression in the ovotestis from 46,XX true hermaphrodites and 46,XX/46,XY mosaicism, demonstrating SRY protein expression in both testicular and ovarian portions in these patients. This suggests that the SRY protein does not inhibit ovary development. These results confirm that other factors are needed for complete testis development, in particular, those downstream of the SRY protein.
© 2001 S. Karger AG, Basel
Request reprints from Dr. Laura Salas-Cortés, Unité d’Immunogénétique Humaine,INSERM E0021, Institut Pasteur, 25, rue du Dr. Roux,F–75724 Paris Cedex 15 (France); telephone: 331-45-68-86-03;fax: 331-40-61-31-53; e-mail: firstname.lastname@example.org
Supported by the Foundation pour la Recherche Medical (FRM), Société de Secours des Amis des Sciences, Laboratoire AKZO Nobel Organon, and the Program ECOS-CONICYT (France-Chile). The Millennium Institute for Fundamental and Applied Biology (MIFAB) is financed in part by the Ministerio de Planificación y Cooperación (Chile).
Received: Received 1 August 2000;
revision accepted 12 September 2000.
Number of Print Pages : 5
Number of Figures : 2, Number of Tables : 1, Number of References : 28
Cytogenetics and Cell Genetics
Founded 1962 as Cytogenetics by H.P. Klinger
Vol. 91, No. 1-4, Year 2000 (Cover Date: 2000)
Journal Editor: H.P. Klinger, Bronx, N.Y.; M. Schmid, Würzburg
ISSN: 0301–0171 (print), 1422–9816 (Online)
For additional information: http://www.karger.com/journals/ccg