Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome

Human Molecular Genetics

Volumn 7, Issue 3, 1998, Pages 563-569

  Price, Jennifer A ^a   Bowden, Donald W ^a   Wright, J Tim ^b   Pettenati, Mark J ^a   Hart, Thomas C ^a  

^a WAKE FOREST SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF NORTH CAROLINA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE DENSITY; BONE DISEASE; CHROMOSOME 17Q; CONTROLLED STUDY; ENAMEL HYPOPLASIA; FRAMESHIFT MUTATION; GENE FUNCTION; HAIR DISEASE; HOMEOBOX; HUMAN; HUMAN CELL; KINKY HAIR; PLEIOTROPY; PRIORITY JOURNAL; SKULL; STOP CODON; TOOTH DISEASE; TRICHODONTOOSSEOUS SYNDROME;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; BONE AND BONES; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 17; DNA MUTATIONAL ANALYSIS; EXONS; GENES, HOMEOBOX; GENETIC MARKERS; HAIR; HAPLOTYPES; HOMEODOMAIN PROTEINS; HUMANS; MICE; MOLECULAR SEQUENCE DATA; MULTIGENE FAMILY; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; SYNDROME; TOOTH ABNORMALITIES; TRANSCRIPTION FACTORS;

EID: 0031912018     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.3.563     Document Type: Article

References (35)

1. Kula,K., Hall,K.I., Hart,T.C. and Wright,J.T. (1997) Craniofacial morphology of the tricho-dento-osseous syndrome. Clin. Genet., 50, 446-454.
2. Wright,J.T., Roberts,M.W., Wilson,A.S. and Kudhail,K. (1994) Trichodento-osseous syndrome: features of the hair and teeth. Oral Surg. Oral Med. Oral Pathol., 77, 487-493.
3. Lichtenstein,J., Warson,R., Jorgenson,R., Dorst,J.P. and McKusick,V.A. (1972) The tricho-dento-osseous (TDO) syndrome. Am. J. Hum Genet., 24, 569-582.
4. Quattromani,F.L., Shapiro,S.D., Young,R.S., Jorgenson,R.J., Parker,J.W., Blumhardt,R. and Reece,R.R. (1983) Clinical heterogeneity in the tricho-dento-osseous syndrome. Hum. Genet., 64, 116-121.
5. Wright,J.T., Hall,K.I., Kula,K. and Hart,T.C. (1997) Analysis of the tricho-dento-osseous syndrome genotype and phenotype. Am. J. Med. Genet., 72, 197-204.
6. Jorgenson,R.J. and Warson,R.W. (1973) Dental abnormalities in the tricho-dento-osseous syndrome. Oral Surg., 36, 693-700.
7. Ogden,G.R. (1988) Tricho-dento-osseous syndrome. Ann. Dent., 46, 12-14.
8. Seow,W.K. (1993) Trichodentoosseous (TDO) syndrome: case report and literature review. J. Pediat. Dent., 15, 355-361.
9. Shapiro,S.D., Quattromani,F.L., Jorgenson,R.J. and Young,R.S. (1983) Tricho-dento-osseous syndrome: heterogeneity or clinical variability. Am. J. Med. Genet., 16, 225-236.
10. Maas,R. and Bei,M. (1997) The genetic control of early tooth development. Crit. Rev. Oral Biol. Med., 8, 4-39.
11. MacKenzie,A., Ferguson,M.W.J. and Sharpe,P.T. (1992) Expression patterns of the homeobox gene, hox-8, in the mouse embryo suggest a role in specifying tooth initiation and shape. Development, 115, 403-420.
12. Sharpe,P.T. (1995) Homeobox genes and orofacial development. Connective Tissue Res., 32, 17-25.
13. Jowett,AK., Vainio,S., Ferguson,M.W.J., Sharpe,P.T. and Thesleff,I. (1993) Epithelial-mesemchymal interactions are required for msx 1 and msx 2 gene expression in the developing murine molar tooth. Development, 117, 461-470.
14. Thomas,B.L., Porteus,M.H., Rubenstein,J.L.R. and Sharpe,P.T. (1995) The spatial localization of Dlx-2 during tooth development. Connective Tissue Res., 32, 27-34.
15. Simeone,A., Acampora,D., Pannese,M., d'Esposito,M., Stomaiuolo,A., Gulisano.M., Mallamaci,A., Kastury,K., Druck,T., Huebner,K. and Boncinelli,E. (1994) Cloning and characterization of two members of the vertebrate Dlx gene family. Proc. Natl. Acad. Sci. USA, 91, 2250-2254.
16. Qui,M., Bulfone,A., Ghattas,I., Meneses,J., Christensen,L., Sharpe.P.T., Presley,R., Pedersen,R.A. and Rubenstein,J.L.R. (1997) Role of the Dlx homeobox genes in proximodistal patterning of the branchial arches: mutations of Dlx-1, Dlx-2, and Dlx-1 and -2 alter morphogenesis of proximal skeletal and soft tissue structures derived from the first and second arches. Dev. Biol., 185, 165-184.
17. Robinson,G.W. and Mahon,K.A. (1994) Differential and overlapping expression domains of Dlx-2 and Dlx-3 suggest distinct roles for Distal-less homeobox genes in craniofacial development. Mech. Dev., 48, 199-215.
18. Satokata,I. and Maas,R. (1994) Msx 1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. Nature Genet., 6, 348-356.
19. Vastardis,H., Karimbux,N., Guthua,S.W., Seidman,J.G. and Seidman,C.E. (1996) A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nature Genet., 13, 417-421.
20. Jabs,E.W., Muller,U., Li,X., Ma,L., Luo,W., Haworth,I.S., Klisak,I., Sparkes,R., Warman,M. L., Mulliken,J.B., Snead,M.L. and Maxson,R. (1993) A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell, 75, 443-450.
21. Akimenko,M.-A, Ekker,M., Wegner,J., Lin.W. and Westerfield,M. (1994) Combinatorial expression of three zebrafish genes related to Distal-Less: part of a homeobox gene code for the head. J. Neurosci., 14, 3475-3486.
22. Dirksen,M.-L., Morasso,M.I., Sargent,T.D. and Jamrich,M. (1994) Differential expression of a Distal-less homeobox gene Xdll-2 in ectodermal cell lineages. Mech. Dev., 46, 63-70.
23. McGinnis,W. and Krumlauf,R. (1992) Homeobox genes and axial patterning. Cell, 68, 283-302.
24. Papalpulu,N. and Kintner,C. (1993) Xenopus Distal-less related homeobox genes are expressed in the developing forebrain and are induced by planar signals. Development, 117, 961-975.
25. Weiss,K.M., Bollekens,J., Ruddle,F.H. and Takshita,K. (1994) Distal-Less and other homeobox genes in the development of the dentition. J. Exp. Zool., 270, 273-284.
26. Weiss,K.M., Ruddle,F.H. and Bollekens,J. (1995) Dlx and other homeobox genes in the morphological development of the dentition. Connective Tissue Res., 32, 35-40.
27. McGuiness,T., Porteus,M.H., Smiga,S., Bulfone,A., Kingsley,C., Qiu,M., Liu,J.K., Long,J.E., Xu,D. and Rubenstein,J.L.R. (1996) Sequence, organization, and transcription of the Dlx-1 and Dlx-2 locus. Genomics, 35, 473-485.
28. Nakamura,S., Stock,D.W., Wydner,K.L., Bollekens,J.A., Takeshita,K., Nagai,B.M., Chiba,S., Kitamura,T., Freeland,T.M., Zhao,Z., Minowada,J., Lawrence,J.B., Weiss,K.M. and Ruddle,R.H. (1996) Genomic analysis of a new mammalian distal-less gene: Dlx7. Genomics, 38, 314-324.
29. Hart,T.C, Bowden,D.W., Bolyard,J., Kula,K., Hall,K. and Wright,J.T. (1997) Genetic linkage of the tricho-dento-osseous syndrome to chromosome 17q21. Hum. Mol. Genet., 6, 2279-2284.
30. Dib,C, Faure,S., Fizames,C., Samson,D., Drouot,N., Vignal,A., Millasseau,P., Marc,S., Hazan,J., Seboun,E., Lathrop,M., Gyapay,G., Morissette,J. and Weissenbach,J. (1996) A Comprehensive genetic map of the human genome based on 5,264 microsattelites. Nature, 280, 152-154.
31. Hudson,T.J. et al. (1995) An STS-based map of the human genome. Science, 270, 1945-1954.
32. Stewart,E.A. et al. (1997) An STS-based radiation hybrid map of the human genome. Genome Res., 7, 422-433.
33. Lunetta,K.L., Boehnke,M., Lange,K. and Cox,D.R. (1996) Selected locus and multiple panel models for radiation hybrid mapping. Am. J. Hum. Genet., 59, 717-725.
34. Kozak,M. (1986) Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes. Cell, 44, 283-292.
35. Semina,E.V., Reiter,R., Leysens,N.J., Alward,W.L., Small,K.W., Datson,N.A., Siegel-Bartelt,J., Bierke-Nelson,D., Bitoun,P., Zabel,B.U., Carey,J.C. and Murray,J.C. (1996) Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Reiger syndrome. Nature Genet., 14, 392-399.