A human MSX1 homeodomain missense mutation causes selective tooth agenesis

Nature Genetics

Volumn 13, Issue 4, 1996, Pages 417-421

  Vastardis, Heleni ^a,b   Karimbux, Nadeem ^b   Guthua, Symon W ^c   Seidman, J G ^a   Seidman, Christine E ^a,d  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b HARVARD SCHOOL OF DENTAL MEDICINE   (United States)

^c UNIVERSITY OF NAIROBI   (Kenya)

^d BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; PROLINE;

ARTICLE; CHROMOSOME 4P; CLINICAL ARTICLE; FEMALE; GENETIC LINKAGE; HOMEOBOX; HUMAN; HYPODONTIA; MALE; MISSENSE MUTATION; MOLAR TOOTH; PREMOLAR TOOTH; PRIORITY JOURNAL;

ALLELES; AMINO ACID SEQUENCE; ANODONTIA; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 4; DNA PRIMERS; FEMALE; GENES, DOMINANT; GENES, HOMEOBOX; HOMEODOMAIN PROTEINS; HUMANS; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; MSX1 TRANSCRIPTION FACTOR; PEDIGREE; POINT MUTATION; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; STRUCTURE-ACTIVITY RELATIONSHIP; TRANSCRIPTION FACTORS;

EID: 0030017452     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0896-417     Document Type: Article

References (23)

1. McKusick, V.A. Mendelian Inheritance in Man 11th edn. (The Johns Hopkins University Press, Baltimore, 1994).
2. Graber, L.W. Congenital absence of teeth: a review with emphasis on inheritance patterns. J. Am. Dent. Assoc. 96, 266-275 (1978).
3. Gorlin, R., Cohen, M. & Levin, L. Syndromes of the Head and Neck. (Oxford University Press, New York, 1990).
4. Burzynski, N.J. & Escobar, V.H. Classification and genetics of numeric anomalies of dentition. Birth Defects 19, 95-106 (1983).
5. Symons, A.L., Stritzel, F. & Stamatiou, J. Anomalies associated with hypodontia of the permanent lateral incisor and second premolar. J. Clin. Pediat. Dent. 17, 109-111 (1993).
6. Sharpe, P.T. Homeobox genes and orofacial development. Connect. Tissue. Res. 32, 17-25 (1995).
7. Jowett, A.K., Vainio, S., Ferguson, M.W., Sharpe, P.T. & Thesleff, I. Epithelial-mesenchymal interactions are required for msx1 and msx2 gene expression in the developing murine molar tooth. Development 117, 461-470 (1993).
8. Robert, B., Sassoon, D., Jacq, B., Gehring, W. & Buckingham, M. Hox-7, a mouse homeobox gene with a novel pattern of expression during embryogenesis. EMBO J. 8, 91-100 (1989).
9. Satokata, I. & Maas, R. Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. Nature Genet. 6, 348-356 (1994).
10. Gyapay, G., et al. The 1993-94 Généthon human genetic linkage map. Nature Genet. 7, 246-339 (1994).
11. Murray, J.C., et al. A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC). Science 265, 2049-2054 (1994).
12. Padanilam, B.J. et al. Characterization of the human HOX 7 cDNA and identification of polymorphic markers. Hum. Mol. Genet. 1, 407-410 (1992).
13. Genome Data Base. Chromosome 4.
14. Ferguson, M. Craniofacial malformations: towards a molecular understanding. Nature Genet. 6, 329-330 (1994).
15. Hewitt, J.E., Clark, L.N., Ivans, A. & Williamson, R. Structure and sequence of the human homeobox gene HOX7. Genomics 11, 670-678 (1991).
16. Davidson, D. The function and evolution of Msx genes: pointers and paradoxes. Trends Genet. 11, 405-411 (1995).
17. Nieminen, P., Arte, S., Pirinen, S., Peltonen, L. & Thesleff, I. Gene defect in hypodontia: exclusion of MSX1 and MSX2 as candidate genes. Hum. Genet. 96, 305-308 (1995).
18. Gehring, W.J. et al. Homeodomain-DNA recognition. Cell 78, 211-223 (1994).
19. Muller, M. et al. Isolation and sequence-specific DNA binding of the Antennapedia homeodomain. EMBO J. 7, 4299-4304 (1988).
20. Laughon, A. DNA binding specificity of homeodomains. Biochemistry 30, 11357-11367 (1991).
21. Zhang, H., Catron, K. & Abate-Shen, C. A role for the Msx-1 homeodomain in transcriptional regulation: Residues in the N-terminal arm mediate TATA binding protein interactions and transcriptional repression. Proc. Natl. Acad. Sci. USA 93 1764-1769 (1996).
22. Watkins, H. et al. A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3. Nature Genet. 3, 333-337 (1993).
23. Ausubel, F. et al. Current Protocols in Molecular Biology. (Greene Publishing, New York, 1989).