Mutations in SRY and SOX9: Testis-determining genes

Human Mutation

Volumn 9, Issue 5, 1997, Pages 388-395

  Cameron, Fergus J ^a   Sinclair, Andrew H ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

TESTIS DETERMINING FACTOR;

CHROMOSOME 11Q; CHROMOSOME 17Q; CHROMOSOME TRANSLOCATION; GENE EXPRESSION; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; MEIOSIS; MULTIGENE FAMILY; NONHUMAN; OPEN READING FRAME; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SEX DETERMINATION; TESTIS DEVELOPMENT; Y CHROMOSOME;

DNA-BINDING PROTEINS; GENE EXPRESSION; HIGH MOBILITY GROUP PROTEINS; HUMANS; MALE; MUTATION; NUCLEAR PROTEINS; OPEN READING FRAMES; POLYMORPHISM, GENETIC; SEX DIFFERENTIATION; SEX-DETERMINING REGION Y PROTEIN; TESTIS; TRANSCRIPTION FACTORS;

EID: 0030948046     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:5<388::AID-HUMU2>3.0.CO;2-0     Document Type: Review

References (13)

1. Affara NA, Chalmers IJ, Ferguson-Smith MA (1993) Analysis of the SRV gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain. Hum Mol Genet 2:785-789.
2. Behlke MA, Bogan JS, Beer-Romero P, Page DC (1993) Evidence that the SRY protein is encoded by a single exon on the human Y chromosome. Genomics 17:736-739.
3. Berta P, Hawkins JR, Sinclair AH, Taylor A, Griffiths BL, Goodfellow PN, Fellous M (1990) Genetic evidence equating SRY and the testis determining factor. Nature 348:448-450.
4. Braun A, Kammerer S, Cleve H, Lohrs U, Schwarz H-P, Kuhnle U (1993) True hermaphroditism in a 46,XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): Molecular genetics and histological findings in a sporadic case. Am J Hum Genet 52:578-585.
5. Burgoyne PS, Palmer SJ (1992) Cellular basis of sex determination and sex reversal in mammals. In S.G. Hillier (ed): "Gonadal Development and Function." New York: Raven Press, pp 17-30.
6. Cameron FJ, Hageman RM, Cooke-Yarborough C, Kwok C, Goodwin LL, Sillence DO, Sinclair AH (1996) A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal. Hum Mol Genet 5:1625-1630.
7. Cameron FJ, Smith MJ, Warne GL, Sinclair AH (1997) A novel mutation in the SRY gene results in 46,XY gonadal dysgenesis. Hum Mutat (in press).
8. Capel B (1995) New bedfellows in the mammalian sex-determination affair. Trends Genet 11:161-163.
9. Chatters S, Whitecross N (1994) Campomelic dysplasia with sex-reversal associated with an apparently balanced paracentric inversion within the long arm of chromosome 17. Clin Cytogenet Bull 2:12-13.
10. Clepet C, Schafer AJ, Sinclair AH, Palmer MS, Lovell-Badge R, Goodfellow PN (1993) The human SRY transcript. Hum Mol Genet 2:2007-2012.
11. Cohen D, Sinclair AH, McGovern JD (1994) SRY enhances transcription of Fos-related antigen-1 promotor constructs. Proc Natl Acad Sci USA 91:4372-4376.
12. Davis RM (1981) Localization of male-determining factors in man: A thorough review of structural anomalies of the Y chromosome. J Med Genet 18:161-195.
13. Denny P, Swift S, Connor G, Ashworth A (1992) An SRY-related gene expressed during spermatogenesis in the mouse encodes a sequence specific DNA-binding protein. EMBO J 11:3705-3712.