Novel missense mutations in PAX9 causing oligodontia

Archives of Oral Biology

Volumn 57, Issue 6, 2012, Pages 784-789

  Liang, Jia ^a   Song, Guangtai ^a   Li, Qing ^a   Bian, Zhuan ^a  

^a WUHAN UNIVERSITY   (China)

Author keywords

Missense mutation; Oligodontia; PAX9

Indexed keywords

LUCIFERASE; PAX9 PROTEIN, HUMAN; TRANSCRIPTION FACTOR PAX9;

ARTICLE; CASE CONTROL STUDY; CELL CULTURE; CHINA; CODON; FEMALE; GEL MOBILITY SHIFT ASSAY; GENETIC TRANSFECTION; GENETICS; HUMAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; SITE DIRECTED MUTAGENESIS; TOOTH MALFORMATION; WESTERN BLOTTING;

BLOTTING, WESTERN; CASE-CONTROL STUDIES; CELLS, CULTURED; CHINA; CODON; DNA MUTATIONAL ANALYSIS; ELECTROPHORETIC MOBILITY SHIFT ASSAY; FEMALE; HUMANS; LUCIFERASES; MALE; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; PAX9 TRANSCRIPTION FACTOR; PEDIGREE; PHENOTYPE; TOOTH ABNORMALITIES; TRANSFECTION;

EID: 84862796579     PISSN: 00039969     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.archoralbio.2011.12.005     Document Type: Article

References (27)

1. I. Thesleff The genetic basis of tooth development and dental defects Am J Med Genet A 140 23 2006 2530 2535
2. H. Vastardis, N. Karimbux, S.W. Guthua, J.G. Seidman, and C.E. Seidman A human MSX1 homeodomain missense mutation causes selective tooth agenesis Nat Genet 13 4 1996 417 421
3. D.W. Stockton, P. Das, M. Goldenberg, R.N. D'Souza, and P.I. Patel Mutation of PAX9 is associated with oligodontia Nat Genet 24 1 2000 18 19
4. L. Lammi, S. Arte, M. Somer, H. Jarvinen, P. Lahermo, and I. Thesleff Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer Am J Hum Genet 74 5 2004 1043 1050
5. R. Tao, B. Jin, S.Z. Guo, W. Qing, G.Y. Feng, and D.G. Brooks A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia J Hum Genet 51 5 2006 498 502
6. H. Peters, A. Neubuser, K. Kratochwil, and R. Balling Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities Genes Dev 12 17 1998 2735 2747
7. P. Das, D.W. Stockton, C. Bauer, L.G. Shaffer, R.N. D'Souza, and T. Wright Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia Hum Genet 110 4 2002 371 376
8. P. Das, M. Hai, C. Elcock, S.M. Leal, D.T. Brown, and A.H. Brook Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia Am J Med Genet A 118A 1 2003 35 42
9. M.L. Klein, P. Nieminen, L. Lammi, E. Niebuhr, and S. Kreiborg Novel mutation of the initiation codon of PAX9 causes oligodontia J Dent Res 84 1 2005 43 47
10. A. Mostowska, B. Biedziak, and W.H. Trzeciak A novel mutation in PAX9 causes familial form of molar oligodontia Eur J Hum Genet 14 2 2006 173 179
11. V. Tallon-Walton, M.C. Manzanares-Cespedes, S. Arte, P. Carvalho-Lobato, I. Valdivia-Gandur, and A. Garcia-Susperregui Identification of a novel mutation in the PAX9 gene in a family affected by oligodontia and other dental anomalies Eur J Oral Sci 115 6 2007 427 432
12. N. Suda, T. Ogawa, T. Kojima, C. Saito, and K. Moriyama Non-syndromic oligodontia with a novel mutation of PAX9 J Dent Res 90 3 2011 382 386
13. H. Kapadia, S. Frazier-Bowers, T. Ogawa, and R.N. D'Souza Molecular characterization of a novel PAX9 missense mutation causing posterior tooth agenesis Eur J Hum Genet 14 4 2006 403 409
14. T. Ogawa, H. Kapadia, J.Q. Feng, R. Raghow, H. Peters, and R.N. D'Souza Functional consequences of interactions between Pax9 and Msx1 genes in normal and abnormal tooth development J Biol Chem 281 27 2006 18363 18369
15. Y. Wang, J.C. Groppe, J. Wu, T. Ogawa, G. Mues, and R.N. D'Souza Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9 Hum Mol Genet 18 15 2009 2863 2874
16. H. Fan, X. Ye, L. Shi, W. Yin, B. Hua, and G. Song Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia and hypodontia in Chinese kindreds Eur J Oral Sci 116 5 2008 412 417
17. J.K. Mensah, T. Ogawa, H. Kapadia, A.C. Cavender, and R.N. D'Souza Functional analysis of a mutation in PAX9 associated with familial tooth agenesis in humans J Biol Chem 279 7 2004 5924 5933
18. T. Czerny, and M. Busslinger DNA-binding and transactivation properties of Pax-6: three amino acids in the paired domain are responsible for the different sequence recognition of Pax-6 and BSAP (Pax-5) Mol Cell Biol 15 5 1995 2858 2871
19. S. Kawai, and T. Sugiura Characterization of human bone morphogenetic protein (BMP)-4 and -7 gene promoters: activation of BMP promoters by Gli, a sonic hedgehog mediator Bone 29 1 2001 54 61
20. Y. Wang, H. Wu, J. Wu, H. Zhao, X. Zhang, and G. Mues Identification and functional analysis of two novel PAX9 mutations Cells Tissues Organs 189 1-4 2009 80 87
21. A. Mostowska, A. Kobielak, B. Biedziak, and W.H. Trzeciak Novel mutation in the paired box sequence of PAX9 gene in a sporadic form of oligodontia Eur J Oral Sci 111 3 2003 272 276
22. L. Lammi, K. Halonen, S. Pirinen, I. Thesleff, S. Arte, and P. Nieminen A missense mutation in PAX9 in a family with distinct phenotype of oligodontia Eur J Hum Genet 11 11 2003 866 871
23. D. Jumlongras, J.Y. Lin, A. Chapra, C.E. Seidman, J.G. Seidman, and R.L. Maas A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia Hum Genet 114 3 2004 242 249
24. J. Zhao, Q. Hu, Y. Chen, S. Luo, L. Bao, and Y. Xu A novel missense mutation in the paired domain of human PAX9 causes oligodontia Am J Med Genet A 143A 21 2007 2592 2597
25. V.R. Paixao-Cortes, T. Braga, F.M. Salzano, K. Mundstock, C.A. Mundstock, and M.C. Bortolini PAX9 and MSX1 transcription factor genes in non-syndromic dental agenesis Arch Oral Biol 56 4 2011 337 344
26. A. Mostowska, B. Biedziak, and P.P. Jagodzinski Axis inhibition protein 2 (AXIN2) polymorphisms may be a risk factor for selective tooth agenesis J Hum Genet 51 3 2006 262 266
27. N. Callahan, A. Modesto, R. Meira, F. Seymen, A. Patir, and A.R. Vieira Axis inhibition protein 2 (AXIN2) polymorphisms and tooth agenesis Arch Oral Biol 54 1 2009 45 49