Reciprocal effect of Waardenburg syndrome mutations on DNA binding by the Pax-3 paired domain and homeodomain

Human Molecular Genetics

Volumn 6, Issue 11, 1997, Pages 1781-1790

  Fortin, Anouk S ^a   Underhill, D Alan ^a   Gros, Philippe ^a  

^a MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

DNA BINDING PROTEIN; HOMEODOMAIN PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; DNA BINDING; GENE CLUSTER; GENE LOSS; HUMAN; PETERS ANOMALY; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; WAARDENBURG SYNDROME;

AMINO ACID SEQUENCE; ANIMALS; BINDING SITES; CLONING, MOLECULAR; COS CELLS; DNA; DNA-BINDING PROTEINS; HOMEODOMAIN PROTEINS; HUMANS; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; PAIRED BOX TRANSCRIPTION FACTORS; PROTEIN BINDING; TRANSCRIPTION FACTORS; WAARDENBURG'S SYNDROME;

EID: 0030729548     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.11.1781     Document Type: Article

References (51)

1. Stuart, E.T., Kioussi, C. and Gruss, P. (1994) Mammalian Pax genes. Annu. Rev. Genet., 28, 219-236.
2. Bopp, D., Burri, M., Baumgartner, S., Frigerio, G. and Noll, M. (1986) Conservation of a large protein domain in the segmentation gene paired and in functionally related genes of Drosophila. Cell, 47, 1033-1040.
3. Noll, M. (1993) Evolution and role of Pax genes. Curr. Opin .Genet. Dev. 3, 595-605.
4. Mansouri, A., Hallonet, M. and Gruss, P. (1996) Pax genes and their roles in cell differentiation and development. Curr. Opin. Cell Biol., 8, 851-857.
5. Balling, R., Deutsch, U. and Gruss, P. (1988) undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax-1. Cell, 55, 531-535.
6. Glaser, T., Walton, D.S. and Maas, R.L. (1992) Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Nature Genet., 2, 232-239.
7. Jordan, T., Hanson, I., Zaletayev, D., Hodgson, S., Prosser, J., Seawright, A.,Hastie, N. and van Heyningen, V. (1992) The human PAX6 gene is mutated in two patients with aniridia. Nature Genet., 1, 328-332.
8. Hanson, I.M., Fletcher, J.M., Jordan, T., Brown, A., Taylor, D., Adams, R.J., Punnett, H.H. and van Heyningen, V. (1994) Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nature Genet., 6, 168-173.
9. Hill, R.E., Favor, J., Hogan, B.L., Ton, C.C., Saunders, G.F., Hanson , I.M., Prosser, J., Jordan, T., Hastie, N.D. and van Heyningen, V. (1991) Mouse Small eye results from mutations in a paired-like homeobox-containing gene. Nature, 354, 522-525.
10. Chisholm, A.D. and Horuitz, H.R. (1995) Paterning of Caenorhabditis elegans head region by the Pax-6 family member vab-3. Nature, 377, 52-55.
11. Zhang, Y. and Emmons, S. W. (1995) Specification of the sense-organ identity by a Caenorhabditis elegans Pax-6 homologue. Nature, 377, 55-59.
12. Torres, M., Gomez-Pardo, E., Dressier, G.R. and Gruss, P. (1995) Pax-2 controls multiple steps of urogenital development. Development, 121, 4057-4065.
13. Epstein, D.J., Vekemans, M. and Gros, P. (1991) Splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3. Cell, 67, 767-774.
14. Epstein, D.J.,Vogan, K.J.,Trasler, D.G. and Gros, P. (1993) A mutation within intron 3 of the Pax-3 gene produces aberrantly spliced mRNA transcripts in the splotch (Sp) mouse mutant. Proc. Natl Acad. Sci. USA, 90, 532-536.
15. Vogan, K.J., Epstein, D.J., Trasler, D.G. and Gros, P. (1993) The splotchdelayed (Spd) mouse mutant carries a point mutation within the paired box of the Pax-3 gene. Genomics, 17, 364-369.
16. Baldwin, C. T., Hoth, C. F., Macina, R. A. and Milunsky, A. (1995) Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature. Am. J. Med. Genet., 58, 115-122.
17. Waardenburg, P.J. (1951) A new syndrome combining developmental anomalities of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair with congenital deafness. Am. J. Hum. Genet., 3, 195-253.
18. Auerbach R. (1954) Analysis of the developmental effects of a lethal mutation in the house mouse. J. Exp. Zool., 127, 305-329.
19. Beechey, C.V. and Searle, A.G. (1986) Mutations at the Sp locus. Mouse News Lett., 75, 28.
20. Franz T. (1990) Defective ensheathment of motoric nerves in the Splotch mutant mouse. Acta. Anat., 138, 246-253.
21. Bober, E., Franz, T., Arnold, H.H., Gruss, P. and Tremblay, P. (1994) Pax-3 is required for the development of limb muscles: a possible role for the migration of dermomyotomal muscle progenitor cells. Development, 120, 603-612.
22. Xu, W., Rould, M.A., Jun, S., Desplan, C. and Pabo, C.O. (1995) Crystal structure of a paired domain-DNA complex at 2.5 A resolution reveals structural basis for Pax developmental mutations. Cell, 80, 639-650.
23. Epstein, J.A., Glaser, T., Cai, J., Jepeal, L., Walton, D.S. and Maas, R.L. (1994) Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing. Genes Dev., 8, 2022-2034.
24. Vogan, K.J., Underhill, D.A. and Gros, P. (1996) An alternative splicing event in the Pax-3 paired domain identifies the linker region as a key determinant of paired domain DNA-binding activity. Mol. Cell. Biol., 16, 6677-6686.
25. Czerny, T., Schaffner, G. and Busslinger, M. (1993) DNA sequence recognition by Pax proteins: bipartite structure of the paired domain and its binding site. Genes Dev., 7, 2048-2061
26. Wilson, D., Sheng, G., Lecuit, T., Dostatni, N. and Desplan, C. (1993) Cooperative dimerization of paired class homeo domains on DNA. Genes Dev., 7, 2120-2134.
27. Schafer, B.W., Czerny, T., Bernasconi, M., Genini, M. and Busslinger, M. (1994) Molecular cloning and characterization of a human PAX-7 cDNA expressed in normal and neoplastic myocytes. Nucleic Acids Res., 22, 4574-4582.
28. Underhill, D.A., Vogan, K.J. and Gros,P. (1995) Analysis of the mouse Splotch-delayed mutation indicates that the Pax-3 paired domain can influence homeodomain DNA-binding activity. Proc. Natl Acad. Sci. USA, 92, 3692-3696.
29. Miskiewicz, P., Morrissey, D., Lan, Y., Raj, L., Kessler, S., Fujioka, M., Goto, T. and Weir, M. (1996) Both the paired domain and homeodomain are required for in vivo function of Drosophila Paired. Development, 122, 2709-2718.
30. Bertuccioli, C., Fasano, L., Jun, S., Wang, S., Sheng, G. and Desplan, C. (1996) In vivo requirement for the paired domain and homeodomain of the paired segmentation gene product. Development, 122, 2673-2685.
31. Jun, S. and Desplan, C. (1996) Cooperative interactions between paired domain and homeodomain. Development, 122, 2639-2650.
32. Chalepakis, G., Fritsch, R., Fickenscher, H., Deutsch, U., Goulding, M. and Gruss, P. (1991) The molecular basis of the undulated/Pax-1 mutation. Cell, 66, 873-884.
33. Epstein, J.A., Lam, P., Japeal, L., Maas, R.L. and Shapiro, D.N. (1995) Pax3 inhibits myogenic differentiation of cultured myoblast cells. J. Biol. Chem., 270, 11719-11722.
34. Epstein, J.A., Glaser, T., Cai, T., Jepeal,L., Walton, D.S. and Maas, R.L. (1994) Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing. Genes Dev., 17, 2022-2034.
35. Chalepakis, G., Jones, F.S., Edelman, G.M. and Gruss, P. (1994) Pax-3 contains domains for transcription activation and transcription inhibition. Proc. Natl Acad. Sci. USA, 91, 12745-12749.
36. Treisman, J., Harris, E. and Desplan, C. (1991) The paired box encodes a second DNA-binding domain in the paired homeo domain protein. Genes Dev., 5, 594-604.
37. Kappen, C., Schughart, K. and Ruddle, F.H. (1993) Early evolutionary origin of major homeodomain sequence classes. Genomics, 18, 54-70.
38. Kissinger, C.R., Liu, B.S., Martin-Blanco, E., Komberg, T.B. and Pabo, C.O. (1990) Crystal structure of an engrailed homeodomain-DNA complex at 2.8 Å resolution: a framework for understanding homeodomain-DNA interactions. Cell, 63, 579-590.
39. Wilson, D.S., Guenther, B., Desplan, C.and Kuriyan, J. (1995) High resolution crystal structure of a paired (Pax) class cooperative homeodomain dimer on DNA. Cell, 82, 709-719.
40. Gehring, W.J., Qian, Y.Q., Billeter, M., Furukubo-Tokunaga, K., Schier, A.F., Resendez-Perez, D., Affolter, M., Otting, G. and Wuthrich, K. (1994) Homeodomain-DNA recognition. Cell, 78, 211-223.
41. Lalwani, A.K., Brister, J.R., Fex, J., Grundfast, K.M., Ploplis, B., San Agustin, T.B. and Wilcox, E.R. (1995) Further elucidation of the genomic structure of PAX3 and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families. Am. J. Hum. Genet., 56, 75-83.
42. Underhill, D.A. and Gros, P. (1997) The paired domain regulates DNA-binding by the homeodomain within the intact Pax-3 protein. J. Biol. Chem., 272, 14775-14782.
43. Zlotogora, J., Lerer, I., Bar-David, S., Ergaz, Z. and Abeliovich, D. (1995) Homozygosity for Waardenburg syndrome. Am. J. Hum. Genet., 56, 1173-1178.
44. Asher, J.H., Jr, Harrison, R.W., Morell, R., Carey, M.L. and Freidman, T.B. (1996) Effects of Pax3 modifier genes on craniofacial morphology, pigmentation and viability: a murine model of Waardenburg syndrome variation. Genomics, 34, 285-298.
45. Tang, H.K., Chao, L.-Y. and Saunders, G.F. (1997) Functional analysis of paired box missense mutation in the PAX-6 gene. Hum Mol Genet., 6, 381-386.
46. Hoth, C.F., Milunsky, A., Lipsky, N., Sheffer, R., Clarren, S.K. and Baldwin, C.T. (1993) Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). Am. J. Hum. Genet., 52, 455-462.
47. Tassabehji, M., Read, A.P., Newton, V.E., Patton, M., Gruss, P., Harris, R. and Strachan, T. (1993) Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. Nature Genet., 3, 26-30.
48. Fujioka, M., Mieskiewicz, P., Gulledge, A.A., Weir, M.and Tadaatsu, G. (1996) Drosophila Paired regulates late even-skipped expression through a composite binding site for the paired domain and the homeodomain. Development, 122, 2697-2707.
49. Chalepakis, G., Goulding, M., Read, A., Strachan, T. and Gruss, P. (1994) Molecular basis of splotch and Waardenburg Pax-3 mutations. Proc. Natl Acad. Sci. USA, 91, 3685-3689.
50. Tassabehji, M., Newton, V.E., Leverton, K., Tumbull, K., Seemanova, E., Kunze, J., Sperling, K., Strachan, T. and Read, A.P. (1994) PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse. Hum. Mol. Genet., 3, 1069-1074.
51. Sanger, F., Nicklen, S. and Coulson, A.R. (1977) DNA sequencing with chain-terminating inhibitors. Proc. Natl Acad. Sci. USA, 74, 5463-5467.