Msx1 mutations: How do they cause tooth agenesis?

Journal of Dental Research

Volumn 90, Issue 3, 2011, Pages 311-316

  Wang, Y ^a   Kong, H ^a   Mues, G ^a   D'Souza, R ^a  

^a TEXAS A AND M HEALTH SCIENCE CENTER   (United States)

Author keywords

Bmp4; missense mutation; Msx1; Pax9; tooth agenesis

Indexed keywords

BONE MORPHOGENETIC PROTEIN 4; PAIRED BOX TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR MSX1; TRANSCRIPTION FACTOR PAX9;

ANIMAL; ARTICLE; BIOSYNTHESIS; CELL STRAIN COS1; CERCOPITHECUS; GENE EXPRESSION REGULATION; GENETICS; HUMAN; HYPODONTIA; METABOLISM; MISSENSE MUTATION; MOUSE; PROMOTER REGION; PROTEIN BINDING; SITE DIRECTED MUTAGENESIS; TOOTH DEVELOPMENT; TOOTH FLORA; TRANSCRIPTION INITIATION;

ANIMALS; ANODONTIA; BONE MORPHOGENETIC PROTEIN 4; CERCOPITHECUS AETHIOPS; COS CELLS; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HUMANS; MICE; MSX1 TRANSCRIPTION FACTOR; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; ODONTOGENESIS; PAIRED BOX TRANSCRIPTION FACTORS; PAX9 TRANSCRIPTION FACTOR; PROMOTER REGIONS, GENETIC; PROTEIN BINDING; TOOTH GERM; TRANSCRIPTIONAL ACTIVATION;

EID: 79952050683     PISSN: 00220345     EISSN: 15440591     Source Type: Journal    
DOI: 10.1177/0022034510387430     Document Type: Article

References (27)

1. Bei M, Maas R (1998). FGFs and BMP4 induce both Msx1-independent and Msx1-dependent signaling pathways in early tooth development. Development 125:4325-4333. (Pubitemid 28528939)
2. Bei M, Kratochwil K, Maas RL (2000). BMP4 rescues a non-cell-autonomous function of Msx1 in tooth development. Development 127:4711-4718.
3. Catron KM, Iler N, 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. (Pubitemid 23097714)
4. Chandler KJ, Chandler RL, Mortlock DP (2009). Identification of an ancient Bmp4 mesoderm enhancer located 46 kb from the promoter. Dev Biol 327:590-602.
5. Chen Y, Bei M, Woo I, Satokata I, Maas R (1996). Msx1 controls inductive signaling in mammalian tooth morphogenesis. Development 122:3035-3044. (Pubitemid 26371969)
6. Chishti MS, Muhammad D, Haider M, Ahmad W (2006). A novel missense mutation in MSX1 underlies autosomal recessive oligodontia with associated dental anomalies in Pakistani families. J Hum Genet 51:872-878. (Pubitemid 44465697)
7. D'Souza RN, Åberg T, Gaikwad J, Cavender A, Owen M, Karsenty G, et al. (1999). Cbfa1 is required for epithelial-mesenchymal interactions regulating tooth development in mice. Development 126:2911-2920.
8. 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 A 118:35-42. (Pubitemid 37063967)
9. Hovde S, Abate-Shen C, Geiger JH (2001). Crystal structure of the Msx-1 homeodomain/DNA complex. Biochemistry 40:12013-12021. (Pubitemid 32946543)
10. Jumlongras D, Lin JY, 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. (Pubitemid 38208301)
11. Kapadia H, Frazier-Bowers S, Ogawa T, D'Souza RN (2006). Molecular characterization of a novel PAX9 missense mutation causing posterior tooth agenesis. Eur J Hum Genet 14:403-409.
12. 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. (Pubitemid 37406990)
13. Lidral AC, Reising BC (2002). The role of MSX1 in human tooth agenesis. J Dent Res 81:274-278. (Pubitemid 41709807)
14. Lin D, Huang Y, He F, Gu S, Zhang G, Chen Y, et al. (2007). Expression survey of genes critical for tooth development in the human embryonic tooth germ. Dev Dyn 236:1307-1312. (Pubitemid 46750262)
15. Liu F, Chu EY, Watt B, Zhang Y, Gallant NM, Andl T, et al. (2008). Wnt/ beta-catenin signaling directs multiple stages of tooth morphogenesis. Dev Biol 313:210-224. (Pubitemid 350298315)
16. Mostowska A, Kobielak A, Biedziak B, Trzeciak 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. (Pubitemid 37465520)
17. Mostowska A, Biedziak B, Trzeciak WH (2006). A novel c.581C>T transition localized in a highly conserved homeobox sequence of MSX1: is it responsible for oligodontia? J Appl Genet 47:159-164.
18. Nakatomi M, Wang XP, Key D, Lund JJ, Turbe-Doan A, Kist R, et al. (2010). Genetic interactions between Pax9 and Msx1 regulate lip development and several stages of tooth morphogenesis. Dev Biol 340:438-449.
19. Ogawa T, Kapadia H, Feng JQ, Raghow R, Peters H, D'Souza RN (2006). Functional consequences of interactions between Pax9 and Msx1 genes in normal and abnormal tooth development. J Biol Chem 281:18363-18369. (Pubitemid 44035493)
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. (Pubitemid 28420653)
21. Stockton DW, Das P, Goldenberg M, D'Souza RN, Patel PI (2000). Mutation of PAX9 is associated with oligodontia. Nat Genet 24:18-19. (Pubitemid 30041414)
22. 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. (Pubitemid 26256614)
23. Wang XP, O'Connell DJ, Lund JJ, Saadi I, Kuraguchi M, Turbe-Doan A, et al. (2009). Apc inhibition of Wnt signaling regulates supernumerary tooth formation during embryogenesis and throughout adulthood. Development 136:1939-1949.
24. Wang Y, Groppe JC, Wu J, Ogawa T, Mues G, D'Souza RN, et al. (2009a). Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9. Hum Mol Genet 18:2863-2874.
25. Wang Y, Wu H, Wu J, Zhao H, Zhang X, Mues G, et al. (2009b). Identification and functional analysis of two novel PAX9 mutations. Cells Tissues Organs 189:80-87.
26. Wilkie AO, Tang Z, Elanko N, Walsh S, Twigg SR, Hurst JA, et al. (2000). Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. Nat Genet 24:387-390. (Pubitemid 30187438)
27. Xuan K, Jin F, Liu YL, Yuan LT, Wen LY, Yang FS, et al. (2008). Identification of a novel missense mutation of MSX1 gene in Chinese family with autosomal-dominant oligodontia. Arch Oral Biol 53: 773-779.