Mutations in the SALL1 putative transcription factor gene cause Townes- Brocks syndrome

Nature Genetics

Volumn 18, Issue 1, 1998, Pages 81-83

  Kohlhase, Jürgen ^a   Wischermann, Annegret ^b   Reichenbach, Herbert ^c   Froster, Ursula ^c   Engel, Wolfgang ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b Kinderchirurgische Klinik   (Germany)

^c UNIVERSITY HOSPITAL LEIPZIG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CYTOGENETICS; DNA BINDING; DROSOPHILA MELANOGASTER; EVOLUTION; GENE MUTATION; GENETIC TRANSCRIPTION; HEDGEHOG; HUMAN; MALFORMATION SYNDROME; PRIORITY JOURNAL; SYNDROME; XENOPUS;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; BASE SEQUENCE; DNA, COMPLEMENTARY; EAR, EXTERNAL; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYDACTYLY; SYNDROME; THUMB; TRANSCRIPTION FACTORS; ZINC FINGERS;

DROSOPHILA MELANOGASTER; ERINACEIDAE; MELANOGASTER; VERTEBRATA;

EID: 0031963876     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0198-81     Document Type: Article

References (28)

1. Townes, P.L. & Brocks, E.R. Hereditary syndrome of imperforate anus with hand, foot and ear anomalies. J. Pediatr. 8, 321-326 (1972).
2. Serville, F., Lacombe, D., Saura, R., Billeaud, C. & Sergent, M.P. Townes-Brocks syndrome in an infant with translocation t(5;16). Genet. Couns. 4, 109-112 (1993).
3. Kohlhase, J. et al. Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt. Genomics 38, 291-298 (1996).
4. Kühnlein, R.P. et al. spalt encodes an evolutionary conserved zinc finger protein of novel structure which provides homeotic gene function in the head and tail region of the Drosophila embryo. EMBO J. 13, 168-179 (1994).
5. Kühnlein, R.P. & Schuh, R. Dual function of the region specific homeotic gene spalt during Drosophila tracheal system development. Development 122, 2215-2223 (1996).
6. de Cells, J.F., Barrio, R. & Kafatos, F.C. A gene complex acting downstream of dpp in Drosophila wing morphogenesis. Nature 381, 421-424 (1996).
7. Lecuit, T. et al. Two distinct mechanisms for long-range patterning by Decapentaplegic in the Drosophila wing. Nature 381, 387-393 (1996).
8. Nellen, D., Burke, R., Struhl, G. & Basler, K. Direct and long-range action of a DPP morphogen gradient. Cell 85, 357-368 (1996).
9. Ott, T., Kaestner, K.H., Monaghan, A.P. & Schütz, G. The mouse homolog of the region specific homeotic gene spalt of Drosophila is expressed in the developing nervous system and in mesoderm-derived structures. Mech. Dev. 56, 117-128 (1996).
10. Hollemann, T., Schuh, R., Pieler, T. & Stick, R. Xenopus Xsal-1, a vertebrate homolog of the region specific homeotic gene spalt of Drosophila. Mech. Dev. 55, 19-32 (1996).
11. Köster, R., Stick, R., Loosli, F. & Wittbrodt, J. Medaka spalt acts as a target gene of hedgehog signalling. Development 124, 3147-3156 (1997).
12. Wischermann, A. & Holschneider, A.M. Townes-Brocks-Syndrom. Monatsschr. Kinderheilkd. 145, 382-386 (1997).
13. Ferraz, F.G. et al. Townes-Brocks syndrome: report of a case and review of the literature. Ann. Genet. 32, 120-123 (1989).
14. Rossmiller, D.R. & Pasic, T.R. Hearing loss in Townes-Brocks syndrome. Otolaryngol. Head Neck Surg. 111, 175-180 (1994).
15. Newman, W.G., Brunet, M.D. & Donnai, D. Townes-Brocks syndrome presenting as end stage renal failure. Clin, Dysmorphol. 6, 57-60 (1997).
16. Monteiro de Pina-Neto, J. Phenotypic variability in Townes-Brocks syndrome. Am. J, Med. Genet. 18, 147-152 (1984).
17. Cameron, T.H., Lachiewicz, A.M. & Aylsworth, A.S. Townes-Brocks syndrome in two mentally retarded youngsters. Am. J. Med. Genet. 41, 1-4 (1991).
18. Ishikiriyama, S., Kudoh, F., Shimojo, N., Iwai, J. & Inoue, T. Townes-Brocks syndrome associated with mental retardation. Am. J. Med. Genet. 61, 191-192 (1996).
19. Jürgens, G. Head and tail development of the Drosophila embryo involves spalt, a novel homeotic gene. EMBO J. 7, 189-196 (1988).
20. Sturtevant, M.A., Biehs, B., Marin, E. & Bier, E. The spalt gene links the A/P compartment boundary to a linear adult structure in the Drosophila wing. Development 124, 21-32 (1997).
21. Vortkamp, A., Gessler, M. & Grzeschik, K.-H. GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families. Nature 352, 539-540 (1991).
22. Kang, S., Graham Jr, J.M., Olney, A.H. & Biesecker, L.G. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nature Genet. 15, 266-268 (1997).
23. Pelletier, J. et al. Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell 67, 437-447 (1991).
24. Tickle, C. Genetics and limb development. Dev. Genet. 19, 1-8 (1996).
25. Roberts, D.C. et al. Sonic hedgehog is an endodermal signal inducing BMP-4 and Hox genes during induction and regionalization of the chick hindgut. Development 121, 3163-3174 (1995).
26. Valentini, R.P. et al. Post-translational processing and renal expression of mouse Indian hedgehog. J. Biol. Chem. 272, 8466-8473 (1997).
27. Dudley, A.T., Lyons, K.M. & Robertson, E.J. A requirement for bone morphogenetic protein-7 during development of the mammalian kidney and eye. Genes Dev. 9, 2795-2807 (1995).
28. Luo, G. et al. BMP-7 is an inducer of nephrogenesis, and is also required for eye development and skeletal patterning. Genes Dev. 9, 2808-2820 (1995).