Novel mutation in the SRY gene results in 46, XY gonadal dysgenesis

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Cameron, Fergus J ^a   Smith, Matthijs J ^a   Warne, Garry L ^a   Sinclair, Andrew H ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; DNA BINDING PROTEIN; HIGH MOBILITY GROUP PROTEIN; NUCLEAR PROTEIN; SRY PROTEIN, HUMAN; TESTIS DETERMINING FACTOR; TRANSCRIPTION FACTOR;

ADOLESCENT; ARTICLE; BINDING SITE; CASE REPORT; CHEMISTRY; GENDER AND SEX; GENETICS; GONADAL DYSGENESIS; HUMAN; MALE; METABOLISM; NUCLEOTIDE SEQUENCE; POINT MUTATION; STOP CODON; DNA DETERMINATION; DNA SEQUENCE; FEMALE; GENE AMPLIFICATION; KARYOTYPE 46,XY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADOLESCENT; BINDING SITES; CODON, TERMINATOR; DNA; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; GONADAL DYSGENESIS, 46,XY; HIGH MOBILITY GROUP PROTEINS; HUMANS; MALE; NUCLEAR PROTEINS; POINT MUTATION; SEX DETERMINATION (GENETICS); SEX-DETERMINING REGION Y PROTEIN; TRANSCRIPTION FACTORS;

EID: 0031985546     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110136     Document Type: Article

References (12)

1. Cameron FJ and Sinclair AH (1996) Mutation in SRY and SOX9: testis determining genes. Human Mutation (in press).
2. Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, Stevanovic M, Weissenbach J, Mansour S, Young ID, Goodfellow PN, Brook JD, Schafer A] (1994) Campomelic dysplasia and autosomal sex-reversal caused by mutations in an SRY-related gene. Nature 372:525-530.
3. 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.
4. Hunter RHF (1995) Sex Determination, Differentiation and Inter-sexuality in Placental Mammals. Cambridge: Cambridge University Press.
5. 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.
6. 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
7. 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.
8. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215.
9. 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.
10. Sinclair AH (1995) New genes for boys. Am J Hum Genet 57:998-1001.
11. 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.
12. 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.