Novel mutation in the SRY gene results in 46,XY gonadal dysgenesis
Fergus J. Cameron
Department of Paediatrics and Centre for Hormone Research, University of Melbourne, Royal Children's Hospital, Parkville, VIC. 3052. Australia
Search for more papers by this authorMatthijs J. Smith
Department of Paediatrics and Centre for Hormone Research, University of Melbourne, Royal Children's Hospital, Parkville, VIC. 3052. Australia
Search for more papers by this authorGarry L. Warne
Department of Paediatrics and Centre for Hormone Research, University of Melbourne, Royal Children's Hospital, Parkville, VIC. 3052. Australia
Search for more papers by this authorCorresponding Author
Dr. Andrew H. Sinclair
Department of Paediatrics and Centre for Hormone Research, University of Melbourne, Royal Children's Hospital, Parkville, VIC. 3052. Australia
Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC. 3052. Australia. Fax: 613-9345-6000Search for more papers by this authorFergus J. Cameron
Department of Paediatrics and Centre for Hormone Research, University of Melbourne, Royal Children's Hospital, Parkville, VIC. 3052. Australia
Search for more papers by this authorMatthijs J. Smith
Department of Paediatrics and Centre for Hormone Research, University of Melbourne, Royal Children's Hospital, Parkville, VIC. 3052. Australia
Search for more papers by this authorGarry L. Warne
Department of Paediatrics and Centre for Hormone Research, University of Melbourne, Royal Children's Hospital, Parkville, VIC. 3052. Australia
Search for more papers by this authorCorresponding Author
Dr. Andrew H. Sinclair
Department of Paediatrics and Centre for Hormone Research, University of Melbourne, Royal Children's Hospital, Parkville, VIC. 3052. Australia
Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC. 3052. Australia. Fax: 613-9345-6000Search for more papers by this author
References
- Cameron FJ and Sinclair AH (1996) Mutation in SRY and SOX9: testis determining genes. Human Mutation (in press).
- Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, Stevanovic M, Weissenbach J, Mansour S, Young ID, Goodfellow PN, Brook JD, Schafer AJ (1994) Campomelic dysplasia and autosomal sex-reversal caused by mutations in an SRY-related gene. Nature 372: 525–530.
- Harley VR, Jackson DI, Hextall PJ, Hawkins JR, Berkovitz GS, Sockanathan S, Lovell-Badge R, Goodfellow PN (1992) DNA binding activity of recombinant SRY from normal males and XY females. Science 255: 453–456.
-
Hunter RHF
(1995)
Sex Determination, Differentiation and Inter-sexuality in Placental Mammals.
Cambridge:
Cambridge University Press.
10.1017/CBO9780511565274 Google Scholar
- Jager RJ, Harley VR, Pfeiffer RA, Goodfellow PN, Scherer G (1993) Familial mutation in the testis determining gene SRY shared by both sexes. Hum Genet 90: 979–984.
- Kent J, Wheatley SC, Andrews JE, Sinclair AH, Koopman P (1996) A male-specific role for SOX9 in vertebrate sex determination. Development 122: 2813–2822
- Koopman P, Gubbay J, Vivian N, Goodfellow PN, Lovell-Badge R (1991) Male development of chromosomally female mice transgenic for Sry. Nature 351: 117–121.
- Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16: 1215.
- Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths B, Smith MJ, Foster JW, Frischauf A-M, Lovell-Badge R, Goodfellow PN (1990) A gene from the human sex determining region encodes a protein with homology to a conserved DNA binding motif. Nature 346: 240–244.
- Sinclair AH (1995) New genes for boys. Am J Hum Genet 57: 998–1001.
- Tajima T, Nakae J, Shinohara N, Fujieda K (1994) A novel mutation localized in the 3′ non-HMG box region of the SRY gene in 46,XY gonadal dysgenesis. Hum Mol Genet 3: 1187–1189.
- Wagner T, Wirth J, Meyer J, Zabel B, Held M, Zimmer J, Pasantes J, Bricarelli FD, Keutel J, Hustert E, Wolf U, Tommerup N, Schempp W, Scherer G (1994) Autosomal sex reversal and campomelic dysplasia are caused by mutation in and around the SRY-related gene SOX9. Cell 79: 1111–1120.