Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype

Human Genetics

Volumn 99, Issue 5, 1997, Pages 648-652

  Veitia, R ^a   Ion, A ^b   Barbaux, S ^a   Jobling, M A ^c   Souleyreau, N ^a   Ennis, K ^d   Ostrer, H ^e   Tosi, M ^a   Meo, T ^a   Chibani, J ^f   Fellous, M ^a   McElreavey, K ^a  

^a INSTITUT PASTEUR   (France)

^b HÔPITAL SAINT VINCENT DE PAUL   (France)

^c UNIVERSITY OF LEICESTER   (United Kingdom)

^d BELFAST CITY HOSPITAL   (United Kingdom)

^e NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^f UNIVERSITY OF MONASTIR   (Tunisia)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; TESTIS DETERMINING FACTOR;

ARTICLE; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; DNA FLANKING REGION; DNA POLYMORPHISM; FEMALE; FLUORESCENCE ANALYSIS; GENE MUTATION; GONADAL DYSGENESIS; HUMAN; HUMAN CELL; KARYOTYPE 46,XY; MISSENSE MUTATION; NONSENSE MUTATION; OPEN READING FRAME; POLYADENYLATION; PRIORITY JOURNAL; SEX DETERMINATION; Y CHROMOSOME;

EID: 0030891395     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050422     Document Type: Article

References (25)

1. Affara AA, Chalmers I, Ferguson-Smith MA (1993). Analysis of the SRY 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. Bardoni B, Zanaria E, Guioli S, Floridia G, Worley G, Tonini G, Ferrante E, Chiumello G, McCabe ERB, Fraccaro M, Zuffardi O, Camerino G (1994) A dosage sensitive locus at Xp21 is involved in male to female sex reversal. Nat Genet 7:497-501
3. Bennett CP, Docherty Z, Robb SA, Ramani P, Hawkins JR, Grant D (1993) Deletion 9p and sex reversal. J Med Genet 30:518-520
4. Cotton RGH, Rodriguez NR, Campbell RD (1988) Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetraoxide and its application to the study of mutations. Proc Natl Acad Sci USA 85:4397-4401
5. Eicher E, Washburn L (1986) Genetic control of primary sex determination in mice. Annu Rev Genet 20:327-360
6. Ferrari S, Harley V, Pontiggia A, Goodfellow P, Lovell-Badge R, Bianchi M (1992) SRY recognises sharp angles in DNA. EMBO J 11:4497-4505
7. Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, Stevanovic M, Weissenbach J Mansour S, Young I, Goodfellow PN, Brook J, Schafer AJ (1994) Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 372:525-529
8. Gubbay J, Collignon J, Koopman P, Capel B, Economou A, Münsterberg A, Vivian N, Goodfellow P, Lovell-Badge R (1990) A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes. Nature 346:245-250
9. Jobling MA, Tyler-Smith C (1995) Fathers and sons: the Y chromosome and human evolution. Trends Genet 11:449-456
10. Jobling MA, Samara V, Pandya A, Fretwell N, Bernasconi B, Mitchell RJ, Gerelsaikhan T, Dashnyam B, Sajantila A, Salo PJ, Nakahori Y, Disteche CM, Thangaraj K, Singh L, Crawford MH, Tyler-Smith C (1996) Recurrent duplication and deletion polymorphisms on the long arm of the Y chromosome in normal males. Hum Mol Genet 5(11):1767-1775
11. Koivisto U-M, Palvimo JJ, Jänne OA, Kontula K (1994) A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia. Proc Natl Acad Sci USA 91:10526-10530
12. Kwok C, Tyler-Smith C, Medonca BB, Hughes I, Berkovitz GD, Goodfellow PN, Hawkins JR (1996) Mutation analysis of 2 kb 5′ to SRY in XY females and XY intersex subjects. J Med Genet 33:465-468
13. Mandel JL, Chambon P (1979) DNA methylation: organ specific variations in the methylation pattern within and around ovalbumin and other chicken genes. Nucleic Acids Res 7:2081-2103
14. McElreavey K, Vilain E, Abbas N, Costa J-M, Souleyreau N, Kucheria K, Boucekkine C, Thibaud E, Brauner R, Flamant F, Fellous M (1992) XY sex reversal associated with a deletion 5′ to the SRY HMG box in the testis determining region. Proc Natl Acad Sci USA 89:11016-11020
15. McElreavey K, Vilain E, Barbaux S, Doco-Fenzy M, Fellous M, Berkovitz G (1996) Loss of sequences 3′ to the testis determining gene SRY, including the pseudoautosomal boundary, associated with partial testicular determination. Proc Natl Acad Sci USA 93:8590-8594
16. Payen EJ, Cotinot CY (1994) Sequence evolution of the SRY gene within the bovidae family. Mamm Genome 5:723-725
17. Pontiggia A, Rimini R, Harley VR, Goodfellow PN, Lovell-Badge R, Bianchi ME (1994) Sex reversing mutations affect the architecture of SRY-DNA complexes. EMBO J 13:6115-6124
18. Sinclair AH, Berta P, Palmer MS, Hawkins R, Griffiths BL, Smith MJ, Foster JW, Frischauf A-M, Lovell-Badge R, Goodfellow PN (1990) A conserved gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346:240-244
19. Schmidt-Ney M, Thiele H, Kaltwasser P, Bardoni B, Cisternino M, Scherer G (1995) Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers. Am J Hum Genet 56:862-869
20. Verpy E, Biasotto M, Meo T, Tosi M (1994) Efficient detection of point mutations on color-coded strands of target DNA. Proc Natl Acad Sci USA 91:1873-1877
21. Verpy E, Biasotto M, Brai M, Misiano G, Meo T, Tosi M (1996) Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angioedema. Am J Hum Genet 59:308-319
22. Vilain E, McElreavey K, Jaubert F, Raymond JP, Richaud F, Fellous M (1992) Familial case with sequence variant in the testis determining region associated with two sex phenotypes. Am J Hum Genet 50:1008-1011
23. Wilkie AOM, Campbell FM, Daubeney P, Grant DB, Daniels RJ, Mullarkey M, Affara NA, Fitchett M, Huson SM (1993) Complete and partial XY sex reversal associated with terminal deletion of 10q: report of 2 cases and literature review. Am J Med Genet 46:597-600
24. Whitfield LS, Lovell-Badge R, Goodfellow PN (1993) Rapid sequence evolution of the mammalian sex-determining gene SRY. Nature 364:713-715
25. Whitfield LS, Sulston JE, Goodfellow PN (1995) Sequence variation of the human Y chromosome. Nature 378:379-380