Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development (original) (raw)

References

  1. Hill, R.E. et al. A new family of mouse homeo box-containing genes: molecular structure chromosomal location & developmental expression of Hox-7.1. Genes Dev. 3, 26–37 (1989).
    Article CAS PubMed Google Scholar
  2. Robert, B., Sassoon, D., Jacq, B., Gehring, W. & Buckingham, M. >Hox-7, a mouse homeobox gene with a novel pattern of expression during embryogenesis. EMBO J. 8, 91–100 (1989).
    Article CAS PubMed PubMed Central Google Scholar
  3. Gehring, W.J. The homeobox: Structural and evolutionary aspects, in Molecular Approaches toDevelopmental Biology (eds Firtel, R.A. & Davidson, E.H.) 115–129 (Liss, New York, 1987).
    Google Scholar
  4. Holland, P.W.H. Cloning and evolutionary analysis of msh like homeobox genes from mouse, zebrafish and ascidian. Gene 98, 253–257 (1991).
    Article CAS PubMed Google Scholar
  5. Monaghan, A.P. et al. The _Msh_-like homeobox genes define domains in the developing vertebrate eye. Development 112,1053–1061 (1991).
    CAS PubMed Google Scholar
  6. Bell, J.R. et al. Genomic structure, chromosomal location, and evolution of the mouse Hox-8 gene. Genomics 16, 123–131 and 17, 800 (1993).
    Article CAS PubMed Google Scholar
  7. Ivens, A. et al. The human homeobox gene Hox7 maps chromosome 4p16.1 and may be implicated in Wolf-Hirschhorn syndrome. Human Genet. 84, 473–476 (1990).
    Article CAS Google Scholar
  8. Hewitt, J.E., Clark, L.N., Ivens, A. & Williamson, R. Structure and sequence of the human homeobox gene Hox7. Genomics 11, 670–678 (1991).
    Article CAS PubMed Google Scholar
  9. Jabs, E.W. et al. A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell 75, 443–450 (1993).
    Article CAS PubMed Google Scholar
  10. MacKenzie, A., Leeming, G.L., Jowett, A.K., Ferguson, M.W.J. & Sharpe, P.T. The homeobox gene Hox7.1 has specific regional and temporal expression patterns during early murine craniofacial embryogenesis, especially tooth development in vivo and in vitro. Development 111, 269–285 (1991).
    CAS PubMed Google Scholar
  11. MacKenzie, A., Ferguson, M.W.J. & Sharpe, P.T. Hox-7 expression during murine craniofacial development. Development 113, 601–611 (1991).
    CAS PubMed Google Scholar
  12. MacKenzie, A., Ferguson, M.W.J. & Sharpe, P.T. Expression patterns of the homeobox gene Hox 8 in the mouse embryo suggest a role in specifying tooth initiation and shape. Development 115, 403–420 (1992).
    CAS PubMed Google Scholar
  13. Suzuki, H.R., Padanilam, B.J., Vitale, E., Ramirez, F. & Solursh, M. Repeating developmental expression of G-Hox7, a novel homeobox-containing gene in the chicken. Dev. Biol. 148, 375–388 (1991).
    Article CAS PubMed Google Scholar
  14. Lyons, G.E., Houzelstein, D., Sassoon, D., Robert, B. & Buckingham, M. Multiple sites of Hox-7 expression during mouse embryogenesis: comparison with retinoic acid receptor mRNA localization. Molec. repro. Dev. 32, 303–314(1992).
    Article CAS Google Scholar
  15. Chan-Thomas, P.S., Thompson, R.P., Robert, B., Yacoub, M.H. & Barton, P.J.R. Expression of homeobox genes Msx-1 (Hox-7) and Msx-2 (Hox-8) during cardiac development in chick. Develop. Dyn. 197, 203–216 (1993).
    Article CAS Google Scholar
  16. Robert, B., Lyons, G., Simandl, B.K., Kuroiwa, A. & Buckingham, M. The apical ectodermal ridge regulates Hox-7 and Hox-8 gene expression in developing chick limb buds. Genes Dev. 5, 2363–2374 (1991).
    Article CAS PubMed Google Scholar
  17. Davidson, D.R., Crawley, A., Hill, R.E. & Tickle, C. Position dependent expression of two related homeobox genes in developing vertebrate limbs. Nature 352, 429–431 (1991).
    Article CAS PubMed Google Scholar
  18. Coelho, C.N.D., Krabbenhoft, K.M., Upholt, W.B., Fallon, J.F. & Kosher, R.A. Altered expression of the chicken homeobox-containing gene GHox-7 and GHox-8 in the limb buds of limbless mutant chick embryos. Development 113, 1487–1493 (1991).
    CAS PubMed Google Scholar
  19. Coelho, C.N.D., Upholt, W.B. & Kosher, R.A. Role of the chicken homeobox-containing genes GHox-4.6 and GHox-8 in the specification of positional identities during the development of normal and polydactylous chick limb buds. Development 115, 629–637 (1992).
    CAS PubMed Google Scholar
  20. Ros, M.A. et al. Apical ridge dependent and independent mesodermal domains of GHox-7 and GHox-8 expression in chick limb buds. Development 116, 811–818 (1992).
    CAS PubMed Google Scholar
  21. Brown, J.M. et al. Experimental analysis of the control of expression of the homeobox-gene Msx-1 in the developing limb and face. Development 119, 41–48 (1993).
    CAS PubMed Google Scholar
  22. Takahashi, Y., Bontoux, M. & Le Douarin, N.M. Epithelio-mesenchymal interactions are critical for Quox 7 expression and membrane bone differentiation in the neural crest derived mandibular mesenchyme. EMBOJ. 10, 2387–2393(1991).
    Article CAS Google Scholar
  23. Jowett, A.K., Vainio, S., Ferguson, M.W.J., Sharpe, P.T. & Thesleff, I. Epithelial-mesenchymal interactions are required for msx1 and msx2 gene expression in the developing murine molar tooth. Development 117, 461–470(1993).
    CAS PubMed Google Scholar
  24. Takahashi, Y., Monsoro-Burg, A.-H., Bontoux, M. & Le Douarin, N.M. A role for Quox-8 in the establishment of the dorsoventral pattern during vertebrate development. Proc. natn. Acad. Sci. U.S.A. 89, 10237–10241 (1992).
    Article CAS Google Scholar
  25. Davidson, D.R. & Hill, R.E. Msh-like genes: a family of homeobox genes with wide ranging expression during vertebrate development. Sem. Dev. Biol. 2, 405–412 (1991).
    Google Scholar
  26. Muneoka, K. & Sasoon, D. Molecular aspects of regeneration in developing vertebrate limbs. Dev. Biol. 152, 37–49 (1992).
    Article CAS PubMed Google Scholar
  27. Izpisúa-Belmonte, J.-C. & Duboule, D. Homeobox genes and pattern formation in the vertebrate limb. Dev. Biol. 152, 26–36 (1992).
    Article PubMed Google Scholar
  28. Davidson, E.H. Later embryogenesis: regulatory circuitry in morphogenetic fields. Development 118, 665–690 (1993).
    CAS PubMed Google Scholar
  29. Robert, B. et al. Induction phenomena in vertebrate limb formation and expression of homeobox genes. Ann. Génétique 36, 39–45 (1993).
    CAS Google Scholar
  30. Gorlin, R.J., Cohen, M.M.Jr., & Levin, L.S. Syndromes of the Head and Neck. Oxford Monograph on Medical genetics No. 19, Third edition. 693–714 (Oxford University Press, Oxford, England, 1990).
    Google Scholar
  31. Ranta, R. A review of tooth formation in children with cleft lip/palate. A. J. Orthod. Dentofac. Orthop. 90, 11–18 (1986).
    Article CAS Google Scholar
  32. Randall, P., Krogman, W.M. & Jahina, S., Robin and the syndrome that bears his name. Cleft Palate J. 2, 237–246 (1965).
    Google Scholar
  33. McKusick, V.A. Mendelian Inheritance in Man. 8th edn 1138–1139 (Johns Hopkins University Press, Baltimore 1988).
    Google Scholar
  34. Couly, G. and Le Douarin, N.M. The fate map of the cephalic neural primordium at the presomitic to the 3-somite stage in the avian embryo. Development Supp. 103, 101–113 (1988).
    Google Scholar
  35. Couly, G.F., Coltey, P.M. & Le Douarin, N.M. The triple origin of skull in higher vertebrates: a study in quail-chick chimeras. Development 117, 409–429 (1993).
    CAS PubMed Google Scholar
  36. Noden, D.M. Interactions and fates of avian craniofacial mesenchyme. Development Supp. 103, 121–140 (1988).
    Google Scholar
  37. Lumsden, A.G.S. Spatial organization of the epithelium and the role of neural crest cells in the initiation of the mammalian tooth germ. Development Supp. 103, 155–169 (1988).
    Google Scholar
  38. Johnston, M.C. The neural crest in abnormalities of the face and brain. Birth Defects: Original Article Series, Vol. Xl(7), 1 18 (The National March of Dimes Foundation, 1975).
    Google Scholar
  39. Sulik, K.K., Cook, C.S. & Webster, W.S. Teratogenesis and craniofacial malformations: relationships to cell death. Development Supp. 103, 213–232 (1988).
    CAS Google Scholar
  40. Palmer, R.M. & Lumsden, A.G.S. Development of periodontal ligament and alveolar bone in homografted recombinations of enamel organs and papillary, pulpal and follicular mesenchyme in the mouse. Arch. Oral Biol. 32, 281–289 (1987).
    Article CAS PubMed Google Scholar
  41. Vainio, S., Karavanova, I., Jowett, A. & Thesleff, I. Identification of BMP-4 as a signal mediating secondary induction between epithelial and mesenchymal tissues during early tooth development. Cell 75, 45–58 (1993).
    Article CAS PubMed Google Scholar
  42. Coelho, C.N.D. et al. Expression of the chicken homeobox-containing gene GHox-8 during embryonic chick limb development. Mech. Dev. 34, 143–154 (1991).
    Article CAS PubMed Google Scholar
  43. Coelho, C.N.D., Sumoy, L., Kosher, R.A. & Upholt, W.B., GHox-7: A chicken homeobox-containing gene expressed in a fashion consistent with a role in patterning events during embryonic chick limb development. Differentiation 49, 85–92 (1992).
    Article CAS PubMed Google Scholar
  44. Ferguson, M. Palate development. Development Supp. 103, 41–60 (1988).
    Google Scholar
  45. Fitch, N. Development of cleft palate in mice homozygous for the shorthead mutation. J. Morphot. 109, 151–157 (1961).
    Article CAS Google Scholar
  46. Seegmiller, R.E. & Fraser, F.C. Mandibular growth retardation as a cause of cleft palate in mice homozygous for the chondrodysplasia gene. J. Embryol. exp. Morph. 38, 227–238 (1977).
    CAS PubMed Google Scholar
  47. Juriloff, D.M. & Harris, M.J. Abnormal facial development in the mouse mutant first arch. J. Cranio. Gen. devl. Biol. 3, 317–337 (1983).
    CAS Google Scholar
  48. Culiat, C.T. et al. Concordance between isolated cleft palate in mice and alterations within a region including the gene encoding the β3 subunit of the type Aγ-aminobutyric acid receptor. Proc. natn. Acad. Sci. U.S.A. 90, 5105–5109(1993).
  49. Nakatsu, Y. et al. A cluster of three GABA receptor subunit genes is deleted in a neurological mutant of the mouse p locus. Nature 364, 448–450 (1993).
    Article CAS PubMed Google Scholar
  50. Gendron-Maguire, M. et al. Hoxa-2 mutant mice exhibit homeotic transformation of skeletal elements derived from cranial neural crest. Cell 75, 1317–1331 (1993).
    Article CAS PubMed Google Scholar
  51. Rijli, F.M. et al. A homeotic transformation is generated in the rostral branchial region of the head by disruption of Hoxa-2, which acts as a homeotic selector gene. Cell 75, 1333–1349 (1993).
    Article CAS PubMed Google Scholar
  52. Farrall, M. & Holder, S. Familal recurrence-pattern analysis of cleft lip with or without cleft palate. Am. J. hum. Gen. 50, 270–277 (1992).
    CAS Google Scholar
  53. Marazita, M.L., Hu, D-N, Spence, M.A., Liu, Y-E., Melnick, M. Cleft lip with or without cleft palate in Shanghai, China: evidence for an autosomal major locus. Am. J. hum. Gen. 51, 648–653 (1992).
    CAS Google Scholar
  54. Kurnit, D.M., Layton, W.M. & Matthysse, S., Genetics, chance, and morphogenesis. Am. J. hum. Gen. 41, 979–995 (1987).
    CAS Google Scholar
  55. Li, E., Bestor, T. & Jaenisch, R. argeted mutation of the DNA methyl transferase gene results in embryonic lethality. Cell 69, 915–926 (1992).
    Article CAS PubMed Google Scholar
  56. Zijlstra, M., Li, E., Sajjadi, F., Subramani, S. & Jaensich, R. Germ line transmission of adisrupted β2-microglobulin gene produced by homologous recombination in embryonic stem cells. Nature 342, 435–438 (1989).
    Article CAS PubMed Google Scholar
  57. Robertson, E.J. Embryo-derived stem cell lines in Teratocarcinomas and embryonic stem cells a practical approach (ed. Roberston. E.J.)71–112(IRL press, Oxford, 1987).
    Google Scholar
  58. Thomas, K. & Capecchi, M. Site directed mutagenesis by gene targeting in mouse embryo derived stem cells. Cell 51, 503–512 (1987).
    Article CAS PubMed Google Scholar
  59. Bradley, A. Production and analysis of chimaeric mice. in Teratocarcinomas and embryonic stem cells, a practical approach (ed. Robertson, E.J.) 113–151 (IRL Press, Oxford, 1987).
    Google Scholar
  60. Laird, P.W. et al. Simplified mammalian DNA isolation procedure. Nuc. Acid Res. 19, 4293 (1991).
    Article CAS Google Scholar
  61. McLeod, M.J. Differential staining of cartilage and bone in whole mouse fetuses by alcian blue and alizarin red S. Teratology 22, 299–301 (1980).
    Article CAS PubMed Google Scholar

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