Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

Nature

Volumn 372, Issue 6506, 1994, Pages 525-530

  Foster, Jamie W ^a   Dominguez Steglich, Marina A ^b,c   Guioli, Silvana ^a   Kwok, Cheni ^a   Weller, Polly A ^a   Stevanović, Milena ^a   Weissenbach, Jean ^d   Mansour, Sahar ^b,e   Young, Ian D ^b   Goodfellow, Peter N ^a   Brook, J David ^b,c   Schafer, Alan J ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b NOTTINGHAM CITY HOSPITAL   (United Kingdom)

^c UNIVERSITY OF NOTTINGHAM   (United Kingdom)

^d GÉNÉTHON   (France)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL; ARTICLE; AUTOSOMAL DISORDER; CASE REPORT; DYSPLASIA; FEMALE; FETUS; GENE MUTATION; HUMAN; HUMAN CELL; MOLECULAR INTERACTION; MOUSE; NEWBORN; NONHUMAN; OSSIFICATION; PRIORITY JOURNAL; SEX DETERMINATION; SEX TRANSFORMATION; TESTIS DEVELOPMENT; Y CHROMOSOME;

AMINO ACID SEQUENCE; ANIMAL; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 17; CHROMOSOMES, HUMAN, PAIR 2; DNA PRIMERS; DNA, SINGLE-STRANDED; DNA-BINDING PROTEINS; FEMALE; HIGH MOBILITY GROUP PROTEINS; HUMAN; HYBRID CELLS; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; OSTEOCHONDRODYSPLASIAS; POLYMORPHISM (GENETICS); SEX DIFFERENTIATION DISORDERS; SEX REVERSAL, GONADAL; SUPPORT, NON-U.S. GOV'T; TRANSCRIPTION FACTORS; TRANSLOCATION (GENETICS); TUMOR CELLS, CULTURED;

ANIMALIA; MAMMALIA;

EID: 0028135336     PISSN: 00280836     EISSN: None     Source Type: Journal    
DOI: 10.1038/372525a0     Document Type: Article

References (44)

1. Sinclair, A. H, et al. Nature 346, 240-244 (1990).
2. Koopman, P., Gubbay, J., Vivian, N., Goodfellow, P. & Lovell-Badge, R. Nature 351, 117-121 (1991).
3. Goodfellow, P. N. & Lovell-Badge, R. A. Rev. Genet. 27, 71-92 (1993).
4. Bernstein, R. et al. J. med. Genet. 17, 291-300 (1980).
5. Pelletier, J, et al. Nature 353, 431-434 (1991).
6. Bennett, C. P. et al. J. med. Genet. 30, 518-520 (1993).
7. Wilkie, A. O. M. et al. Am. J. med. Genet. 46, 597-600 (1993).
8. Bardoni, B. et al. Nature Genet. 7, 497-501 (1994).
9. Luo, X., Ikeda, Y. & Parker, K. L. Cell 77, 481-490 (1994).
10. Tommerup, N. et al. Nature Genet. 4, 170-174 (1993).
11. McKusick, V. A. Mendelian Inheritance in Man (The Johns Hopkins Press, Baltimore, 1992).
12. Young, I. D., Zuccollo, J. M., Maltby, E. L. & Broderick, N. J. J. med. Genet. 29, 251-252 (1992).
13. Houston, C. S, et al. Am. J. med. Genet. 15, 3-28 (1983).
14. Cremin, B. J., Orsmond, G. & Beighton, P. Lancet i, 488-489 (1973).
15. Maraia, R., Saal, H. M. & Wangsa, D. Clin. Genet. 39, 401-408 (1991).
16. Walter, M. A. & Goodfellow, P. N. Trends Genet. 9, 352-356 (1993).
17. Walter, M. A., Spillet, D. J., Thomas, P., Weissenbach, J. & Goodfellow, P. N. Nature Genet. 7, 22-28 (1994).
18. Lehrach, H. et al. in Genome Analysis 1: Genetic and Physical Mapping (eds Davies, K. E. & Tilghman, S. H.) 39-81 (Cold Spring Harbor Laboratory Press, New York, 1990).
19. Cohen, D., Chumakov, I. & Weissenbach, J. Nature 366, 698-701 (1993).
20. Stevanovic, M., Lovell-Badge, R., Collignon, J. & Goodfeliow, P. N. Hum. molec. Genet. 2, 2013-2018 (1993).
21. Wright, E- M., Snopek, B. & Koopman, P, Nucleic Acids Res. 21, 744 (1993).
22. Farr, C. J. et al. Mamm. Genome 4, 577-584 (1993).
23. Schilham, M. W., van Eijk, M., van de Wetering, M. & Clevers, H. C, Nucleic Acids Res. 21, 2009 (1993).
24. Mitchell, P. J. & Tjlan, R, Science 245, 371-378 (1989).
25. Hoefnagel, D., Wurster-Hill, D. H., Dupree, W. B., Benirschke, K. & Fuld, G. L. Clin. Genet. 13, 489-499 (1978).
26. Dillon, N. & Grosveld, F. Curr. Opin. Genet. Dev. 5, 260-264 (1994).
27. Capel, B. et al. Nature Genet. 5, 301-307 (1993).
28. Tommerup, N. J. med. Genet. 30, 713-727 (1993).
29. Mansour, S. thesis, Univ. London (1994).
30. Bianchine, J. W., Risemberg, H. M., Kanderian, S. S. & Harrison, H. E. Lancet 1, 1017-1018 (1971).
31. Thurmon, T. F., DeFraites, B. S. & Anderson, E. E. J. Pediatr. 83, 841-843 (1973).
32. Lynch, S. A., Gaunt, M. L. & Minford, A. M. J. med. Genet. 30, 683-686 (1993).
33. Parkhurst, S. M. & Meneely, P. M. Science 264, 924-932 (1994).
34. Bridge, J. et al. Am. J. med. Genet. 21, 225-229 (1985).
35. Harley, V. R. et al. Science 255, 453-456 (1992).
36. Denny, P., Swift, S., Connor, F. & Ashworth, A. EMBO J. 11, 3705-3712 (1992).
37. van de Wetering, M., Oosterwegel, M., van Norren, K. & Clevers, H, EMBO J. 12, 3847-3854 (1993).
38. Lenzini, E, et al. Ann. Genet. 31, 175-180 (1988).
39. Foster, J. W. & Graves, J. A. Proc. natn. Acad. Sci. U.S.A. 91, 1927-1931 (1994).
40. Buehr, M., Gu, S. & McLaren, A. Development 117, 273-281 (1993).
41. Wheater, P. R., Burkitt, H. G. & Daniels, V. G. Functional Histology (Churchill Livingstone, Edinburgh, 1979).
42. Boehnke, M., Lange, K. & Cox, D. R. Am. J. hum. Genet. 49, 1174-1188 (1991).
43. Riley, J. et al. Nucleic Acids Res. 18, 2887-2890 (1990).
44. Black, D. M., Nicolai, H., Borrow, J. & Solomon, E, Am. J. hum. Genet. 52, 702-710 (1993).