Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (2024)

Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (1) https://doi.org/10.1093/hmg/ddi388 · Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (2) Full text

Journal: Human Molecular Genetics, 2005, №23, p.3605-3617

Publisher: Oxford University Press (OUP)

Authors:

  1. Ralf Kist
  2. Michelle Watson
  3. Xiaomeng Wang
  4. Paul Cairns
  5. Colin Miles
  6. Donald J. Reid
  7. Heiko Peters

List of references

  1. Rose, J. (1966) A survey of congenitally missing teeth, excluding third molars, in 6000 orthodontic patients. Dent. Pract. Dent. Rec., 17, 289–295.
  2. Mostowska, A., Kobielak, A. and Trzeciak, W.H. (2003) Molecular basis of non-syndromic tooth agenesis: mutations of MSX1 and PAX9 reflect their role in patterning human dentition. Eur. J. Oral Sci., 111, 365–370.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (3) https://doi.org/10.1034/j.1600-0722.2003.00069.x
  3. Stockton, D.W., Das, P., Goldenberg, M., D'Souza, R.N. and Patel, P.I. (2000) Mutation of PAX9 is associated with oligodontia. Nat. Genet., 24, 18–19.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (4) https://doi.org/10.1038/71634
  4. Kobielak, A., Kobielak, K., Wisniewski, A.S., Mostowska, A., Biedziak, B. and Trzeciak, W.H. (2001) The novel polymorphic variants within the paired box of the PAX9 gene are associated with selective tooth agenesis. Folia Histochem. Cytobiol., 39, 111–112.
  5. Frazier-Bowers, S.A., Guo, D.C., Cavender, A., Xue, L., Evans, B., King, T., Milewicz, D. and D'Souza, R.N. (2002) A novel mutation in human PAX9 causes molar oligodontia. J. Dent. Res., 81, 129–133.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (5) https://doi.org/10.1177/0810129
  6. Das, P., Hai, M., Elcock, C., Leal, S.M., Brown, D.T., Brook, A.H. and Patel, P.I. (2003) Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia. Am. J. Med. Genet., 118A, 35–42.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (6) https://doi.org/10.1002/ajmg.a.10011
  7. Jumlongras, D., Lin, J.Y., Chapra, A., Seidman, C.E., Seidman, J.G., Maas, R.L. and Olsen, B.R. (2004) A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia. Hum. Genet., 114, 242–249.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (7) https://doi.org/10.1007/s00439-003-1066-6
  8. Nieminen, P., Arte, S., Tanner, D., Paulin, L., Alaluusua, S., Thesleff, I. and Pirinen, S. (2001) Identification of a nonsense mutation in the PAX9 gene in molar oligodontia. Eur. J. Hum. Genet., 9, 743–746.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (8) https://doi.org/10.1038/sj.ejhg.5200715
  9. Lammi, L., Halonen, K., Pirinen, S., Thesleff, I., Arte, S. and Nieminen, P. (2003) A missense mutation in PAX9 in a family with distinct phenotype of oligodontia. Eur. J. Hum. Genet., 11, 866–871.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (9) https://doi.org/10.1038/sj.ejhg.5201060
  10. Das, P., Stockton, D.W., Bauer, C., Shaffer, L.G., D'Souza, R.N., Wright, T. and Patel, P.I. (2002) Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. Hum. Genet., 110, 371–376.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (10) https://doi.org/10.1007/s00439-002-0699-1
  11. Klein, M.L., Nieminen, P., Lammi, L., Niebuhr, E. and Kreiborg, S. (2005) Novel mutation of the initiation codon of PAX9 causes oligodontia. J. Dent. Res., 84, 43–47.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (11) https://doi.org/10.1177/154405910508400107
  12. Thesleff, I. (2003) Developmental biology and building a tooth. Quintessence Int., 34, 613–620.
  13. Miletich, I. and Sharpe, P.T. (2003) Normal and abnormal dental development. Hum. Mol. Genet., 12, R69–R73.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (12) https://doi.org/10.1093/hmg/ddg085
  14. Pispa, J. and Thesleff, I. (2003) Mechanisms of ectodermal organogenesis. Dev. Biol., 262, 195–205.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (13) https://doi.org/10.1016/S0012-1606(03)00325-7
  15. Tucker, A. and Sharpe, P. (2004) The cutting-edge of mammalian development; how the embryo makes teeth. Nat. Rev. Genet., 5, 499–508.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (14) https://doi.org/10.1038/nrg1380
  16. Mina, M. and Kollar, E.J. (1987) The induction of odontogenesis in non-dental mesenchyme combined with early murine mandibular arch epithelium. Arch. Oral Biol., 32, 123–127.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (15) https://doi.org/10.1016/0003-9969(87)90055-0
  17. Lumsden, A.G. (1988) Spatial organization of the epithelium and the role of neural crest cells in the initiation of the mammalian tooth germ. Development, 103 (suppl), 155–169.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (16) https://doi.org/10.1242/dev.103.Supplement.155
  18. Jernvall, J., Aberg, T., Kettunen, P., Keranen, S. and Thesleff, I. (1998) The life history of an embryonic signaling center: BMP-4 induces p21 and is associated with apoptosis in the mouse tooth enamel knot. Development, 125, 161–169.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (17) https://doi.org/10.1242/dev.125.2.161
  19. Peters, H., Neubuser, A., Kratochwil, K. and Balling, R. (1998) Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities. Genes Dev., 12, 2735–2747.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (18) https://doi.org/10.1101/gad.12.17.2735
  20. Neubuser, A., Peters, H., Balling, R. and Martin, G.R. (1997) Antagonistic interactions between FGF and BMP signaling pathways: a mechanism for positioning the sites of tooth formation. Cell, 90, 247–255.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (19) https://doi.org/10.1016/S0092-8674(00)80333-5
  21. Satokata, I. and Maas, R. (1994) Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. Nat. Genet., 6, 348–356.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (20) https://doi.org/10.1038/ng0494-348
  22. Chen, Y., Bei, M., Woo, I., Satokata, I. and Maas, R. (1996) Msx1 controls inductive signaling in mammalian tooth morphogenesis. Development, 122, 3035–3044.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (21) https://doi.org/10.1242/dev.122.10.3035
  23. Zhao, X., Zhang, Z., Song, Y., Zhang, X., Zhang, Y., Hu, Y., Fromm, S.H. and Chen, Y. (2000) Transgenically ectopic expression of Bmp4 to the Msx1 mutant dental mesenchyme restores downstream gene expression but represses Shh and Bmp2 in the enamel knot of wild-type tooth germ. Mech. Dev., 99, 29–38.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (22) https://doi.org/10.1016/S0925-4773(00)00467-6
  24. Garn, S., Lewis, A. and Bonne, B. (1961) Third molar polymorphism and the timing of tooth formation. Nature, 192, 989.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (23) https://doi.org/10.1038/192989a0
  25. Meyers, E.N., Lewandoski, M. and Martin, G.R. (1998) An Fgf8 mutant allelic series generated by Cre- and Flp-mediated recombination. Nat. Genet., 18, 136–141.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (24) https://doi.org/10.1038/ng0298-136
  26. Nagy, A., Moens, C., Ivanyi, E., Pawling, J., Gertsenstein, M., Hadjantonakis, A.K., Pirity, M. and Rossant, J. (1998) Dissecting the role of N-myc in development using a single targeting vector to generate a series of alleles. Curr. Biol., 8, 661–664.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (25) https://doi.org/10.1016/S0960-9822(98)70254-4
  27. Sheng, G., Harris, E., Bertuccioli, C. and Desplan, C. (1997) Modular organization of Pax/homeodomain proteins in transcriptional regulation. Biol. Chem., 378, 863–872.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (26) https://doi.org/10.1515/bchm.1997.378.8.863
  28. Rodriguez, C.I., Buchholz, F., Galloway, J., Sequerra, R., Kasper, J., Ayala, R., Stewart, A.F. and Dymecki, S.M. (2000) High-efficiency deleter mice show that FLPe is an alternative to Cre-loxP. Nat. Genet., 25, 139–140.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (27) https://doi.org/10.1038/75973
  29. Harada, H., Kettunen, P., Jung, H.S., Mustonen, T., Wang, Y.A. and Thesleff, I. (1999) Localization of putative stem cells in dental epithelium and their association with Notch and FGF signaling. J. Cell Biol., 147, 105–120.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (28) https://doi.org/10.1083/jcb.147.1.105
  30. Kettunen, P., Laurikkala, J., Itaranta, P., Vainio, S., Itoh, N. and Thesleff, I. (2000) Associations of FGF-3 and FGF-10 with signaling networks regulating tooth morphogenesis. Dev. Dyn., 219, 322–332.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (29) https://doi.org/10.1002/1097-0177(2000)9999:9999<::AID-DVDY1062>3.0.CO;2-J
  31. Harada, H., Toyono, T., Toyoshima, K., Yamasaki, M., Itoh, N., Kato, S., Sekine, K. and Ohuchi, H. (2002) FGF10 maintains stem cell compartment in developing mouse incisors. Development, 129, 1533–1541.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (30) https://doi.org/10.1242/dev.129.6.1533
  32. Line, S.R. (2003) Variation of tooth number in mammalian dentition: connecting genetics, development, and evolution. Evol. Dev., 5, 295–304.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (31) https://doi.org/10.1046/j.1525-142X.2003.03036.x
  33. Pemberton, T.J., Das, P. and Patel, P.I. (2005) Hypodontia: genetics and future perspectives. Braz. J. Oral Sci., 4, 695–706.
  34. 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. Nat. Genet., 13, 417–421.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (32) https://doi.org/10.1038/ng0896-417
  35. van den Boogaard, M.J., Dorland, M., Beemer, F.A. and van Amstel, H.K. (2000) MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. Nat. Genet., 24, 342–343.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (33) https://doi.org/10.1038/74155
  36. Jumlongras, D., Bei, M., Stimson, J.M., Wang, W.F., DePalma, S.R., Seidman, C.E., Felbor, U., Maas, R., Seidman, J.G. and Olsen, B.R. (2001) A nonsense mutation in MSX1 causes Witkop syndrome. Am. J. Hum. Genet., 69, 67–74.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (34) https://doi.org/10.1086/321271
  37. Conrad, M., Brielmeier, M., Wurst, W. and Bornkamm, G.W. (2003) Optimized vector for conditional gene targeting in mouse embryonic stem cells. Biotechniques, 34, 1136–1138.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (35) https://doi.org/10.2144/03346bm03
  38. Wiles, M.V., Vauti, F., Otte, J., Fuchtbauer, E.M., Ruiz, P., Fuchtbauer, A., Arnold, H.H., Lehrach, H., Metz, T., von Melchner, H. et al. (2000) Establishment of a gene-trap sequence tag library to generate mutant mice from embryonic stem cells. Nat. Genet., 24, 13–14.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (36) https://doi.org/10.1038/71622
  39. McMahon, A.P. and Bradley, A. (1990) The Wnt-1 (int-1) proto-oncogene is required for development of a large region of the mouse brain. Cell, 62, 1073–1085.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (37) https://doi.org/10.1016/0092-8674(90)90385-R
  40. Matise, M.P., Auerbach, W. and Joyner, A.L. (2000) Production of targeted embryonic stem cell clones. In Joyner, A.L. (ed.), Gene Targeting: A Practical Approach, 2nd edn. Oxford University Press, Oxford, UK, pp. 101–132.
  41. Church, G.M. and Gilbert, W. (1984) Genomic sequencing. Proc. Natl Acad. Sci. USA, 81, 1991–1995.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (38) https://doi.org/10.1073/pnas.81.7.1991
  42. Nagy, A., Gertsenstein, M., Vintersten, K. and Behringer, R. (2003) Manipulating the Mouse Embryo: A Laboratory Manual, 3rd edn. Cold Spring Harbor Laboratory Press, New York, USA.
  43. Hall, T.A. (1999) BioEdit: a user-friendly biological sequence alignment editor and analysis program for Windows 95/98/NT. Nucl. Acids Symp. Ser., 41, 95–98.
  44. Livak, K.J. and Schmittgen, T.D. (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method. Methods, 25, 402–408.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (39) https://doi.org/10.1006/meth.2001.1262
  45. Reid, D.J., Schwartz, G.T., Dean, C. and Chandrasekera, M.S. (1998) A histological reconstruction of dental development in the common chimpanzee, Pan troglodytes. J. Hum. Evol., 35, 427–448.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (40) https://doi.org/10.1006/jhev.1998.0248
  46. Gerber, J.K., Richter, T., Kremmer, E., Adamski, J., Hofler, H., Balling, R. and Peters, H. (2002) Progressive loss of PAX9 expression correlates with increasing malignancy of dysplastic and cancerous epithelium of the human oesophagus. J. Pathol., 197, 293–297.
    Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (41) https://doi.org/10.1002/path.1115
  47. Rozen, S. and Skaletsky, H. (2000) Primer3 on the WWW for general users and for biologist programmers. Methods Mol. Biol., 132, 365–386.

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Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia (2024)

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