Analysis of the coding sequence of the MSX1 and PAX9 genes in patients with the congenital lack of permanent teeth;Analiza sekwencji kodującej genów MSX1 oraz PAX9 u chorych z wrodzonym brakiem zawiązków zębów stałych

Dental and Medical Problems

Volumn 49, Issue 2, 2012, Pages 157-165

  Mostowska, Adrianna ^a   Biedziak, Barbara ^a   Jagodziński, Paweł P ^a  

^a POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

Author keywords

Hypodontia; MSX1; Mutation; Oligodontia; PAX9

Indexed keywords

EID: 84864592556     PISSN: 1644387X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (45)

1. Polder B.J., Van't Hof M.A., Van der Linden F.P., Kuijpers-Jagtman A.M.: Ameta-analysis of the prevalence of dental agenesis of permanent teeth. Community Dent. Oral. Epidemiol. 2004, 32, 217-226.
2. De Coster P.J., Marks L.A., Martens L.C., Huysseune A.: Dental agenesis: genetic and clinical perspectives. J. Oral. Pathol. Med. 2009, 38, 1-17.
3. Vastardis H.: The genetics of human tooth agenesis: new discoveries for understanding dental anomalies. Am. J. Orthod. Dentofac. Orthop. 2000, 117, 650-656.
4. Schalk-Van Der Weide Y., Beemer F.A., Faber J.A., Bosman F.: Symptomatology of patients with oligodontia. J. Oral. Rehabil. 1994, 21, 247-261.
5. Bakri H., Rapp R., Hadeed G.: Clinical management of ectodermal dysplasia. J. Clin. Pediatr. Dent. 1995, 19, 167-172.
6. Vastardis H., Karimbux N., Guthua S.W., Seidman J.G., Seidman C.E.: Ahuman MSX1 homeodomain missense mutation causes selective tooth agenesis. Nat. Gen. 1996, 13, 417-421.
7. Stockton D.W., Das P., Goldenberg M., D'souza R.N., Patel P.I.: Mutation of PAX9 is associated with oligodontia. Nat. Gen. 2000, 24, 18-19.
8. Lammi L., Arte S., Somer M., Jarvinen H., Lahermo P., Thesleff I., Pirinen S., Nieminen P.: Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. Am. J. Hum. Gen. 2004, 74, 1043-1050.
9. Tao R., Jin B., Guo S.Z., Qing W., Feng G.Y., Brooks D.G., Liu L., Xu J., Li T., Yan Y., He L.: Anovel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia. J. Hum. Gen. 2006, 51, 498-502.
10. Vieira A.R., Meira R., Modesto A., Murray J.C.: MSX1, PAX9, and TGFA contribute to tooth agenesis in humans. J. Dent. Res. 2004, 83, 723-727.
11. Vieira A.R., Modesto A., Meira R., Barbosa A.R., Lidral A.C., Murray J.C.: Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis. Am. J. Med. Gen. A. 2007, 143, 538-545.
12. Kantaputra P., Sripathomsawat W.: WNT10A and isolated hypodontia. Am. J. Med. Gen. A. 2011, 155A, 1119-1122.
13. Mostowska A., Biedziak B., Dunin-Wilczynska I., Komorowska A., Jagodzinski P.P.: Polymorphisms in CHDH gene and the risk of tooth agenesis. Birth Defects Res. A. Clin. Mol. Teratol. 2011, 91, 169-176.
14. Matalova E., Fleischmannova J., Sharpe P.T., Tucker A.S.: Tooth agenesis: from molecular genetics to molecular dentistry. J. Dent. Res. 2008, 87, 617-623.
15. Kavitha B., Priyadharshini V., Sivapathasundharam B., Saraswathi T.R.: Role of genes in oro-dental diseases. Indian J. Dent. Res. 2010, 21, 270-274.
16. Chen Y., Bei M., Woo I., Satokata I., Maas R.: Msx1 controls inductive signaling in mammalian tooth morphogenesis. Development 1996, 122, 3035-3044.
17. Peters H., Neubüser A., Balling R.: Pax genes and organogenesis: Pax9 meets tooth development. Eur. J. Oral Sci. 1998, 106, 38-43.
18. Satokata I., Maas R.: Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. Nat. Gen. 1994, 6, 348-356.
19. Peters H., Neubüser A., Kratochwil K., Balling R.: Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities. Genes Dev. 1998, 12, 2735-2747.
20. Ogawa T., Kapadia H., Feng J.Q., Raghow R., Peters H., D'souza R.N.: Functional consequences of interactions between Pax9 and Msx1 genes in normal and abnormal tooth development. J. Biol. Chem. 2006, 281, 18363-18369.
21. Nakatomi M., Wang X.P., Key D., Lund J.J., Turbe-Doan A., Kist R., Aw A., Chen Y., Maas R.L., Peters H.: Genetic interactions between Pax9 and Msx1 regulate lip development and several stages of tooth morphogenesis. Dev. Biol. 2010, 340, 438-449.
22. Thesleff I., Keränen S., Jernvall J.: Enamel knots as signaling centers linking tooth morphogenesis and odontoblast differentiation. Adv. Dent. Res. 2001, 15, 14-18.
23. Mostowska A., Kobielak A., Biedziak B., Trzeciak W.H.: Novel mutation in the paired box sequence of PAX9 gene in a sporadic form of oligodontia. Eur. J. Oral Sci. 2003, 111, 272-276.
24. Mostowska A., Biedziak B., Trzeciak W.H.: Anovel mutation in PAX9 causes familial form of molar oligodontia. Eur. J. Hum. Gen. 2006, 14, 173-179.
25. Mostowska A., Biedziak B., Trzeciak W.H.: Anovel c.581C>T transition localized in a highly conserved homeobox sequence of MSX1: is it responsible for oligodontia? J. Appl. Gen. 2006, 47, 159-164.
26. Mostowska A., Biedziak B., Jagodzinski P.P.: Novel MSX1 mutation in a family with autosomal-dominant hypodontia of second premolars and third molars. Arch. Oral. Biol. 2012, http://dx.doi.org/10.1016/j.archoralbio. 2012.01.003.
27. Pawlowska E., Janik-Papis K., Poplawski T., Blasiak J., Szczepanska J.: Mutations in the PAX9 gene in sporadic oligodontia. Orthod. Craniofac. Res. 2010, 13, 142-152.
28. Wang J., Jian F., Chen J., Wang H., Lin Y., Yang Z., Pan X., Lai W.: Sequence analysis of PAX9, MSX1 and AXIN2 genes in a C hinese oligodontia family. Arch. Oral Biol. 2011, 56, 1027-1034.
29. Pereira T.V., Salzano F.M., Mostowska A., Trzeciak W.H., Ruiz-Linares A., Chies J.A., Saavedra C., Nagamachi C., Hurtado A.M., Hill K., Castro-de-Guerra D., Silva-Júnior W.A., Bortolini M.C.: Natural selection and molecular evolution in primate PAX9 gene, a major determinant of tooth development. Proc. Natl. Acad. Sci. USA 2006, 103, 5676-5681.
30. Mendoza-Fandino G.A., Gee J.M., Ben-Dor S., Gonzalez-Quevedo C., Lee K., Kobayashi Y., Hartiala J., Myers R.M., Leal S.M., Allayee H., Patel P.I.: Anovel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia. Clin. Gen. 2011, 80, 265-272.
31. Das P., Stockton D.W., Bauer C., Shaffer L.G., D'souza R.N., Wright T., Patel P.I.: Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. Hum. Gen. 2002, 110, 371-376.
32. Haldeman-Englert C.R., Biser A., Zackai E.H., Ming J.E.: A223-kb de novo deletion of PAX9 in a patient with oligodontia. J. Craniofac. Surg. 2010, 21, 837-839.
33. Wang Y., Wu H., Wu J., Zhao H., Zhang X., Mues G., D'souza R.N., Feng H., Kapadia H.: Identification and functional analysis of two novel PAX9 mutations. Cells Tissues Organs 2009, 189, 80-87.
34. Zhu J., Yang X., Zhang C., Ge L., Zheng S.: Anovel nonsense mutation in PAX9 is associated with sporadic hypodontia. Mutagenesis 2011, doi:10.1093/mutage/ger080.
35. Chishti M.S., Muhammad D., Haider M., Ahmad W.: Anovel missense mutation in MSX1 underlies autosomal recessive oligodontia with associated dental anomalies in Pakistani families. J. Hum. Gen. 2006, 51, 872-878.
36. Mikkola M.L.: Molecular aspects of hypohidrotic ectodermal dysplasia. Am. J. Med. Gen. A. 2009, 149A, 2031-2036.
37. Mostowska A., Biedziak B., Jagodzinski P.P.: Axis inhibition protein 2 (AXIN2) polymorphisms may be a risk factor for selective tooth agenesis. J. Hum. Gen. 2006, 51, 262-266.
38. Murthy J., Bhaskar L.: Current concepts in genetics of nonsyndromic clefts. Indian J. Plast. Surg. 2009, 42, 68-81.
39. Galluccio G., Castellano M., La Monaca C.: Genetic basis of non-syndromic anomalies of human tooth number. Arch. Oral Biol. 2012, http://dx.doi.org/10.1016/j.archoralbio.2012.01.005.
40. Qiu M., Bulfone A., Ghattas I., Meneses J.J., Christensen L., Sharpe P.T., Presley R., Pedersen R.A., Rubenstein J.L.: 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. 1997, 185, 165-184.
41. Vieira A.R.: Oral clefts and syndromic forms of tooth agenesis as models for genetics of isolated tooth agenesis. J. Dent. Res. 2003, 82, 162-165.
42. Pillas D., Hoggart C.J., Evans D.M., O'reilly P.F., Sipilä K., Lähdesmäki R., Millwood I.Y., Kaakinen M., Netuveli G., Blane D., Charoen P., Sovio U., Pouta A., Freimer N., Hartikainen A.L., Laitinen J., Vaara S., Glaser B., Crawford P., Timpson N.J., Ring S.M., Deng G., Zhang W., Mccarthy M.I., Deloukas P., Peltonen L., Elliott P., Coin L.J., Smith G.D., Jarvelin M.R.: Genome-wide association study reveals multiple loci associated with primary tooth development during infancy. PLoS Gen. 2010, 6, e1000856.
43. Birnbaum S., Ludwig K.U., Reutter H., Herms S., Steffens M., Rubini M., Baluardo C., Ferrian M., Almeida De Assis N., Alblas M.A., Barth S., Freudenberg J., Lauster C., Schmidt G., Scheer M., Braumann B., Bergé S.J., Reich R.H., Schiefke F., Hemprich A., Pötzsch S., Steegers-Theunissen R.P., Pötzsch B., Moebus S., Horsthemke B., Kramer F.J., Wienker T.F., Mossey P.A., Propping P., Cichon S., Hoffmann P., Knapp M., Nöthen M.M., Mangold E.: Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nat. Gen. 2009, 41, 473-477.
44. Beaty T.H., Murray J.C., Marazita M.L., Munger R.G., Ruczinski I., Hetmanski J.B., Liang K.Y., Wu T., Murray T., Fallin M.D., Redett R.A., Raymond G., Schwender H., Jin S.C., Cooper M.E., Dunnwald M., Mansilla M.A., Leslie E., Bullard S., Lidral A.C., Moreno L.M., Menezes R., Vieira A.R., Petrin A., Wilcox A.J., Lie R.T., Jabs E.W., Wu-Chou Y.H., Chen P.K., Wang H., Ye X., Huang S., Yeow V., Chong S.S., Jee S.H., Shi B., Christensen K., Melbye M., Doheny K.F., Pugh E.W., Ling H., Castilla E.E., Czeizel A.E., Ma L., Field L.L., Brody L., Pangilinan F., Mills J.L., Molloy A.M., Kirke P.N., Scott J.M., Arcos-Burgos M., Scott A.F.: Agenome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nat. Gen. 2010, 42, 525-529.
45. Mostowska A., Hozyasz K.K., Wojcicki P., Biedziak B., Paradowska P., Jagodzinski P.P.: Association between genetic variants of reported candidate genes or regions and risk of cleft lip with or without cleft palate in the Polish population. Birth Defects Res. A. Clin. Mol. Teratol. 2010, 88, 538-545.