The molecular basis of Boston-type craniosynostosis: The Pro148→His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences

Human Molecular Genetics

Volumn 5, Issue 12, 1996, Pages 1915-1920

  Ma, Liang ^a,b   Golden, Serge ^a   Wu, Linda ^a   Maxson, Rob ^a  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; DNA BINDING PROTEIN; HOMEODOMAIN PROTEIN; MUTANT PROTEIN;

AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BINDING AFFINITY; BINDING SITE; COMPLEX FORMATION; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; GEL ELECTROPHORESIS; HOMEOBOX; HUMAN; MOLECULAR STABILITY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DNA BINDING;

MUS MUSCULUS;

EID: 0029800845     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.12.1915     Document Type: Article

References (22)

1. Cohen, M.M., Jr. (1988) Craniosynostosis update 1987. Am. J. Med. Genet. Suppl. 4, 99-148.
2. Cohen, M.M., Jr. (1993) Sutural biology and the correlates of craniosynostosis. Am. J. Med. Genet. 47, 581-616.
3. Warman, M.L., Mulliken, J.B., Muller, U. and Hayward, P.G. (1993) Newly recognized autosomal dominant craniosynostotic syndrome. Am. J. Med. Genet. 46, 444-449.
4. Muller, U., Warman, M.L., Mulliken, J.B. and Weber, J.L. (1993) Assignment of a gene locus involved in craniosynostosis to chromosome 5qter. Hum. Mol. Genet. 2, 119-122.
5. Jabs, E.W. et al. (1993) A mutation in the homeodomain of the human Msx2 gene in a family affected with autosomal dominant craniosynostosis. Cell 75, 443-450.
6. Liu, Y. H. et al. (1995) Premature suture closure and ectopic cranial bone in mice expressing Msx2 transgenes in the developing skull. Proc. Natl Acad. Sci. USA 92, 6137-6141.
7. Kissinger, C.R., Liu, B.S., Martin-Blanco, E., Kornberg, T. and Pabo, C.O. (1990) Crystal structure of an engrailed homeodomain-DNA complex at 2.8A resolution: a framework for understanding homeodomain-DNA interactions. Cell 63, 579-590.
8. Wolberger, C., Vershon, A.K., Liu, B., Johnson, A.D. and Pabo, C.O. (1991) Crystal structure of a MAT alpha 2 homeodomain-operator complex suggests a general model for homeodomain-DNA interactions. Cell 67, 517-528.
9. Klemm, J.D., Rould, M.A. Aurora, R. Herr, W. and Pabo, C.O. (1994) Crystal structure of the Oct-1 POU domain bound to an octamer site: DNA recognition with tethered DNA-binding modules. Cell 77, 21-32.
10. Ekker, S.C., Jackson, D.G., von-Kessler, D.P., Sun, B.I. Young, K.E. and Beachy, P.A. (1994) The degree of variation in DNA sequence recognition among four Drosophila homeotic proteins. EMBO J. 13, 3551-3560.
11. Vershon, A.K. and Johnson, A.D. (1993) A short, disordered protein region mediates interactions between the homeodomain of the yeast a2 protein and the MCM1 protein. Cell 72, 105-112.
12. Semenza, G.L., Wang, G. L. and Kundu, R. (1995) DNA binding and transcriptional properties of wild-type and mutant forms of the homeodomain protein Msx2. Biochem. Biophys. Res. Commun. 209, 257-262.
13. Catron, K.M., Iler, N. and Abate, C. (1993) Nucleotides flanking a conserved TAAT core dictate the DNA binding specificity of three murine homeodomain proteins. Mol. Cell. Biol. 13, 2354-2365.
14. Shang, Z. et al. (1994) Design of a 'minimAl' homeodomain: the N-terminal arm modulates DNA binding affinity and stabilizes homeodomain structure. Proc. Natl Acad. Sci. USA 91, 8373-8377.
15. Emerson, B.M., Lewis, C.D. and Felsenfeld, G. (1985) Interaction of specific nuclear factors with the nuclease-hypersensitive region of the chicken adult beta-globin gene: nature of the binding domain. Cell, 41, 21-30.
16. Isaac, V.E., Sciavolino, P. and Abate, C. (1995) Multiple amino acids determine the DNA binding specificity of the Msx-1 homeodomain. Biochemistry 347, 127-134.
17. van Dijk, M.A. and Murre, C. (1994) Extradenticle raises the DNA binding specificity of homeotic selector gene products. Cell 78, 617-624.
18. Johnson, F.B., Parker, E. and Krasnow, M.A. (1995) Extradenticle protein is a selective cofactor for the Drosophila homeotics: role of the homeodomain and YPWM amino acid motif in the interaction. Proc. Natl Acad. Sci. USA 92, 739-743.
19. Chang, C.P., Shen, W.F., Rosenfeld, S., Lawrence, H.J., Largman, C. and Cleary, M.L. (1995) Pbx proteins display hexapeptide-dependent cooperative DNA binding with a subset of Hox proteins. Genes Dev. 9, 663-674.
20. Chan, S.K., Jaffe, L., Capovilla, M., Botas, J. and Mann, R.S. (1994) The DNA binding specificity of Ultrabithorax is modulated by cooperative interactions with extradenticle, another homeoprotein. Cell 78, 603-615.
21. Smith, D.B. (1993) Purification of glutathione-S-transferase fusion proteins. Methods Mol. Cell. Biol. 4, 220-229.
22. Ausubel, F.M., Brent, R., Kingston, R.E., Moore, D.D., Siedman, J.G., Smith, J.A. and Struhl, K. (1989) Current Protocols in Molecular Biology. Wiley, New York.