For Manuscript Submission, Check or Review Login please go to Submission Websites List.
For the academic login, please select your country in the dropdown list. You will be redirected to verify your credentials.
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