MSX1, PAX9, and TGFA contribute to tooth agenesis in humans

Journal of Dental Research

Volumn 83, Issue 9, 2004, Pages 723-727

  Vieira, A R ^a   Meira, R ^c,d   Modesto, A ^c   Murray, J C ^a,b  

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

^d Bolsista da CAPES   (Brazil)

Author keywords

Anodontia; Homeobox; Hypodontia; Transcription factors; Transforming growth factor alpha

Indexed keywords

DNA BINDING PROTEIN; HOMEODOMAIN PROTEIN; MSX1 PROTEIN, HUMAN; PAX9 PROTEIN, HUMAN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR MSX1; TRANSCRIPTION FACTOR PAX9; TRANSFORMING GROWTH FACTOR ALPHA;

ADOLESCENT; ADULT; ALLELE; ARTICLE; BASE PAIRING; CHILD; DNA SEQUENCE; EXON; FEMALE; GENETIC MARKER; GENETICS; GENOTYPE; HAPLOTYPE; HUMAN; HYPODONTIA; INTRON; MALE; MIDDLE AGED; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADOLESCENT; ADULT; ALLELES; ANODONTIA; BASE PAIRING; CHILD; DNA-BINDING PROTEINS; EXONS; FEMALE; GENETIC MARKERS; GENOTYPE; HAPLOTYPES; HOMEODOMAIN PROTEINS; HUMANS; INTRONS; MALE; MIDDLE AGED; MSX1 TRANSCRIPTION FACTOR; PAX9 TRANSCRIPTION FACTOR; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS; TRANSFORMING GROWTH FACTOR ALPHA;

EID: 4644312296     PISSN: 00220345     EISSN: None     Source Type: Journal    
DOI: 10.1177/154405910408300913     Document Type: Article

References (29)

1. Basart AM, Qian JF, May E, Murray JC (1994). A PCR method for detecting polymorphism in transforming growth factor-alpha gene. Hum Mol Genet 3:678.
2. Das P, Stockton DW, Bauer C, Shaffer LG, D'Souza RN, Wright JT, et al. (2002). Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. Hum Genet 110:371-376.
3. Das P, Hai M, Elcock C, Leal SM, Brown DT, Brook AH, et al. (2003). Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia. Am J Med Genet 118(A):35-42.
4. Dixon MJ, Garner J, Ferguson MWJ (1991). Immunolocalization of epidermal growth factor (EGF), EGF receptor and transforming growth factor alpha (TGFα) during murine palatogenesis in vivo and in vitro. Anat Embryol 184:83-91.
5. Frazier-Bowers SA, Guo DC, Cavender A, Xue L, Evans B, King T, et al. (2002). A novel mutation in human PAX9 causes molar oligodontia. J Dent Res 81:129-133.
6. Jugessur A, Lie RT, Wilcox A, Murray JC, Taylor JA, Saugstad OD, et al. (2003). Variants of developmental genes (TGFA, TGFB3, and MSX1) and their associations with orofacial clefts - a case-parent triad analysis. Genet Epidemiol 24:230-239.
7. Jumlongras D, Lin J-Y, Chapra A, Seidman CE, Seidman JG, Maas RL, et al. (2004). A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia. Hum Genet 114:242-249.
8. Lammi L, Halonen K, Pirinen S, Thesleff I, Arte S, Nieminen P (2003). A missense mutation in PAX9 in a family with distinct phenotype of oligodontia. Eur J Hum Genet 11:866-871.
9. Lidral AC, Reising BC (2002). The role of MSX1 in human tooth agenesis. J Dent Res 81:274-278.
10. Lidral AC, Romitti PA, Basart AM, Doetschman T, Leysens NJ, Daack-Hirsch S, et al. (1998). Association of MSX1 and TGFB3 with nonsyndromic clefting in humans. Am J Hum Genet 63:557-568.
11. Machida J, Yoshiura K, Funkhauser CD, Natsume N, Kawai T, Murray JC (1999). Transforming growth factor-α (TGFA): genomic structure, boundary sequences, and mutation analysis in nonsyndromic cleft lip/palate and cleft palate only. Genomics 61:237-242.
12. Mackenzie A, Leeming GL, Jowett AK, Ferguson MWJ, Sharpe PT (1991). The homeobox gene Hox 7.1 has specific regional and temporal expression patterns during early murine craniofacial embryogenesis, especially tooth development in vivo and in vitro. Development 11:269-285.
13. Mann GB, Fowler KJ, Gabriel A, Nice EC, Williams RL, Dunn AR (1993). Mice with a null mutation of the TGFα gene have abnormal skin architecture, wavy hair, and curly whiskers and often develop corneal inflammation. Cell 73:249-261.
14. Mitchell LE (2000). Relationship between case-control studies and the transmission/disequilibrium test. Genet Epidemiol 19:193-201.
15. Mostowska A, Kobielak A, Biedziak B, Trzerciak WH (2003). Novel mutation in the paired box sequence of PAX9 gene in a sporadic form of oligodontia. Eur J Oral Sci 111:272-276.
16. Nickerson DA, Tobe VO, Taylor SL (1997). PolyPhred: automating the detection nd genotyping of single nucleotide substitutions using fluorescence-based resequencing. Nucleic Acids Res 25:2745-2751.
17. Nieminen P, Arte S, Tanner D, Paulin L, Alaluusua S, Thesleff I, et al. (2001). Identification of a nonsense mutation in the PAX9 gene in molar oligodontia. Eur J Hum Genet 9:743-746.
18. Padanilam BJ, Stadler HS, Mills KA, McLeod LB, Solursh M, Lee B, et al. (1992). Characterization of the human HOX7 cDNA and identification of polymorphic markers. Hum Mol Genet 1:407-410.
19. Peters H, Balling R (1999). Teeth: where and how to make them. Trends Genet 15:59-65.
20. Peters H, Neubüser A, Kratochwil K, Balling R (1998). PAX9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities. Genes Dev 12:2735-2747.
21. Satokata I, Maas R (1994). MSX1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. Nat Genet 6:348-356.
22. Shi M (2002). Applications of kinetic PCR to high throughput genotyping and pooled sample analysis (dissertation). Iowa, IA: Univ. of Iowa.
23. Slayton RL, Williams L, Murray JC, Wheeler JJ, Lidral AC, Nishimura CJ (2003). Genetic association studies of cleft lip and/or palate with hypodontia outside the cleft region. Cleft Palate-Craniofac J 40:274-279.
24. Spielman RS, McGinnis RE, Ewens WJ (1993). Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 52:506-516.
25. Stockton DW, Das P, Goldenberg M, D'Souza RN, Patel PI (2000). Mutation of PAX9 is associated with oligodontia. Nat Genet 24:18-19.
26. Thomson G (1988). HLA disease associations: models for insulin dependent diabetes mellitus and the study of complex human genetic disorders. Annu Rev Genet 22:31-50.
27. Vastardis H, Karimbux N, Guthua SW, Seidman JG, Seidman CE (1996). A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nat Genet 13:417-421.
28. Vieira AR (2003). Oral clefts and syndromic forms of tooth agenesis may be the best models for genetics of isolated tooth agenesis. J Dent Res 82:162-165.
29. Vieira AR, Orioli IM (2001). Candidate genes for nonsyndromic cleft lip and palate. ASDC J Dent Child 68:272-279.