Biochemical defects in eight SRY missense mutations causing XY gonadal dysgenesis

Molecular Genetics and Metabolism

Volumn 77, Issue 3, 2002, Pages 217-225

  Mitchell, Claire L ^a,b   Harley, Vincent R ^a,c  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b Cytopia Ltd   (Australia)

^c MONASH MEDICAL CENTRE   (Australia)

Author keywords

DNA bending; DNA binding; HMG domain; Mutation; Site directed mutagenesis; SRY

Indexed keywords

CURVED DNA; DNA BINDING PROTEIN; SEX DETERMINING REGION OF THE Y CHROMOSOME PROTEIN; UNCLASSIFIED DRUG; DNA; NUCLEAR PROTEIN; SRY PROTEIN, HUMAN; TESTIS DETERMINING FACTOR; TRANSCRIPTION FACTOR;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE ACTIVITY; GONADAL DYSGENESIS; HUMAN; MISSENSE MUTATION; POINT MUTATION; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN DNA BINDING; PROTEIN DNA INTERACTION; PROTEIN DOMAIN; SRY GENE; AMINO ACID SEQUENCE; GENDER AND SEX; GENETICS; MALE; METABOLISM; MOLECULAR GENETICS; PHYSIOLOGY; PROTEIN BINDING;

AMINO ACID SEQUENCE; DNA; DNA-BINDING PROTEINS; FEMALE; GONADAL DYSGENESIS, 46,XY; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NUCLEAR PROTEINS; PROTEIN BINDING; SEX DETERMINATION (GENETICS); SEX-DETERMINING REGION Y PROTEIN; TRANSCRIPTION FACTORS;

EID: 0036432466     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(02)00165-8     Document Type: Article

References (35)

1. P. Koopman, J. Gubbay, N. Vivian, P. Goodfellow, R. Lovell Badge, Male development of chromosomally female mice transgenic for Sry, Nature 351 (1991) 117-121.
2. C.E. Bishop, D.J. Whitworth, Y. Qin, A.I. Agoulnik, I.U. Agoulnik, W.R. Harrison, R.R. Behringer, P.A. Overbeek, A transgenic insertion upstream of sox9 is associated with dominant XX sex reversal in the mouse, Nat. Genet. 26 (2000) 490-494.
3. K.L. Parker, A. Schedl, B.P. Schimmer, Gene interactions in gonadal development, Annu. Rev. Physiol. 61 (1999) 417-433.
4. K. McElreavey, E. Vilain, N. Abbas, I. Herskowitz, M. Fellous, A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development, Proc. Natl. Acad. Sci. USA 90 (1993) 3368-3372.
5. V.R. Harley, R. Lovell Badge, P.N. Goodfellow, Definition of a consensus DNA binding site for SRY, Nucleic Acids Res. 22 (1994) 1500-1501.
6. K. Giese, J. Pagel, R. Grosschedl, Distinct DNA-binding properties of the high mobility group domain of murine and human SRY sex-determining factors, Proc. Natl. Acad. Sci. USA 91 (1994) 3368-3372.
7. V.R. Harley, D.I. Jackson, P.J. Hextall, J.R. Hawkins, G.D. Berkovitz, S. Sockanathan, R. Lovell Badge, P.N. Goodfellow, DNA binding activity of recombinant SRY from normal males and XY females, Science 255 (1992) 453-456.
8. S.L. Layfield, Masters of Science, Department of Biochemistry and Molecular Biology, University of Melbourne, Melbourne, 1999.
9. A. Pontiggia, R. Rimini, V.R. Harley, P.N. Goodfellow, R. Lovell Badge, M.E. Bianchi, Sex-reversing mutations affect the architecture of SRY-DNA complexes, EMBO J. 13 (1994) 6115-6124.
10. R. Peters, C.Y. King, E. Ukiyama, S. Falsafi, P.K. Donahoe, M.A. Weiss, An SRY mutation causing human sex reversal resolves a general mechanism of structure-specific DNA recognition: Application to the four-way DNA junction, Biochemistry 34 (1995) 4569-4576.
11. M. Schmitt-Ney, H. Thiele, P. Kaltwasser, B. Bardoni, M. Cisternino, G. Scherer, Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers, Am. J. Hum. Genet. 56 (1995) 862-869.
12. F. Poulat, S. Soullier, C. Goze, F. Heitz, B. Calas, P. Berta, Description and functional implications of a novel mutation in the sex-determining gene SRY, Hum. Mutat. 3 (1994) 200-204.
13. R.J. Jager, V.R. Harley, R.A. Pfeiffer, P.N. Goodfellow, G. Scherer, A familial mutation in the testis-determining gene SRY shared by both sexes, Hum. Genet. 90 (1992) 350-355.
14. A.H. Sinclair, P. Berta, M.S. Palmer, J.R. Hawkins, B.L. Griffiths, M.J. Smith, J.W. Foster, A.M. Frischauf, R. Lovell Badge, P.N. Goodfellow, A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif, Nature 346 (1990) 240-244.
15. S.R. Stone, M.J. Hughes, J.P. Jost, in: J.P. Jost, H.P. Saluz (Eds.), A Laboratory Guide to In Vitro Studies of Protein-DNA Interactions, Birkhäuser, Basel, 1991, pp. 164-184.
16. J. Kim, C. Zwieb, C. Wu, S. Adhya, Bending of DNA by gene-regulatory proteins: Construction and use of a DNA bending vector, Gene 85 (1989) 15-23.
17. S. McDowall, A. Argentaro, S. Ranganathan, P. Weller, S. Mertin, S. Mansour, J. Tolmie, V. Harley, Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia, J. Biol. Chem. 274 (1999) 24023-24030.
18. S. Ferrari, V.R. Harley, A. Pontiggia, P.N. Goodfellow, R. Lovell Badge, M.E. Bianchi, SRY, like HMG1, recognizes sharp angles in DNA, EMBO J. 11 (1992) 4497-4506.
19. J.F. Thompson, A. Landy, Empirical estimation of protein-induced DNA bending angles: Applications to lambda site-specific recombination complexes, Nucleic Acids Res. 16 (1988) 9687-9705.
20. M. Desclozeaux, F. Poulat, P. de Santa Barbara, J.P. Capony, P. Turowski, P. Jay, C. Mejean, B. Moniot, B. Boizet, P. Berta, Phosphorylation of an N-terminal motif enhances DNA-binding activity of the human SRY protein, J. Biol. Chem. 273 (1998) 7988-7995.
21. M.H. Werner, J.R. Huth, A.M. Gronenborn, G.M. Clore, Molecular basis of human 46X,Y sex reversal revealed from the three-dimensional solution structure of the human SRY-DNA complex, Cell 81 (1995) 705-714.
22. P. Berta, J.R. Hawkins, A.H. Sinclair, A. Taylor, B.L. Griffiths, P.N. Goodfellow, M. Fellous, Genetic evidence equating SRY and the testis-determining factor, Nature 348 (1990) 448-450.
23. S. Brown, C. Yu, P. Lanzano, D. Heller, L. Thomas, D. Warburton, J. Kitajewski, L. Stadtmauer, A de novo mutation (Gln2Stop) at the 5′ end of the SRY gene leads to sex reversal with partial ovarian function, Am. J. Hum. Genet. 62 (1998) 189-192.
24. G. Scherer, M. Held, M. Erdel, D. Meschede, J. Horst, R. Lesniewicz, A.T. Midro, Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations, Cytogenet. Cell Genet. 80 (1998) 188-192.
25. A. Braun, S. Kammerer, H. Cleve, U. Lohrs, H.P. Schwarz, U. Kuhnle, 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 (1993) 578-585.
26. D.R. Cohen, A.H. Sinclair, J.D. McGovern, SRY protein enhances transcription of Fos-related antigen 1 promoter constructs, Proc. Natl. Acad. Sci. USA 91 (1994) 4372-4376.
27. J. Deckert, R.A. Khalaf, S.M. Hwang, R.S. Zitomer, Characterization of the DNA binding and bending HMG domain of the yeast hypoxic repressor Rox1, Nucleic Acids Res. 27 (1999) 3518-3526.
28. Y.-M. Yen, B. Wong, R.C. Johnson, Determinants of DNA binding and bending by the Saccharomyces cerevisiae high mobility group protein NHP6A that are important for its biological activities, J. Biol. Chem. 273 (1998) 4424-4435.
29. K.D. McElreavey, E. Vilain, C. Boucekkine, M. Vidaud, F. Jaubert, F. Richaud, M. Fellous, XY sex reversal associated with a nonsense mutation in SRY, Genomics 13 (1992) 838-840.
30. S. Domenice, M. Yumie Nishi, A.E. Correia Billerbeck, A.C. Latronico, M. Aparecida Medeiros, A.J. Russell, K. Vass, F. Marino Carvalho, E.M. Costa Frade, I.J. Prado Arnhold, B. Bilharinho Mendonca, A novel missense mutation (S18N) in the 50 non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives, Hum. Genet. 102 (1998) 213-215.
31. R.S. Hines, S.P. Tho, Y.Y. Zhang, L. Plouffe Jr, K.A. Hansen, I. Khan, P.G. McDonough, Paternal somatic and germ-line mosaicism for a sex-determining region on Y (SRY) missense mutation leading to recurrent 46,XY sex reversal, Fertil. Steril. 67 (1997) 675-679.
32. E. Battiloro, B. Angeletti, M.C. Tozzi, L. Bruni, S. Tondini, P. Vignetti, R. Verna, E. D'Ambrosio, A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome, Hum. Genet. 100 (1997) 585-587.
33. L. Zhi, X. Zheng-gang, X. Guanghui, Molecular analysis of SRY gene of seven 46, XY females, Chin. Med. J. Genet. 12 (1996) 258-261.
34. N.A. Affara, I.J. Chalmers, M.A. Ferguson Smith, 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 (1993) 785-789.
35. Y.T. Zeng, Z.R. Ren, M.L. Zhang, Y. Huang, F.Y. Zeng, S.Z. Huang, A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis, J. Med. Genet. 30 (1993) 655-657.