The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome

Human Molecular Genetics

Volumn 7, Issue 6, 1998, Pages 945-957

  Bourgeois, Patrice ^a   Bolcato Bellemin, Anne Laure ^a   Danse, Jean Marc ^a   Bloch Zupan, Agnes ^b   Yoshiba, Kunihiko ^a,c   Stoetzel, Corinne ^a   Perrin Schmitt, Fabienne ^a  

^a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^b INSERM   (France)

^c NIIGATA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ACROCEPHALOSYNDACTYLY; ALLELE; ANIMAL CELL; ANIMAL EXPERIMENT; ARTICLE; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; EAR MALFORMATION; EMBRYO; EMBRYO DEVELOPMENT; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENE TARGETING; HETEROZYGOTE; LIMB DEFECT; MIDDLE EAR; MOUSE; NONHUMAN; OSSIFICATION; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; SENSE ORGAN; SKULL DEFECT; TOOTH DEVELOPMENT;

ANIMALIA;

EID: 0031832127     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.6.945     Document Type: Article

References (60)

1. Chen, Z.F. and Behringer, R.R. (1995) twist is required in head mesenchyme for cranial neural tube morphogenesis. Genes Dev., 9, 686-699.
2. Wolf. C., Thisse, C., Stoetzel. C., Thisse, B., Gerlinger. P. and Perrin-Schmitt, F. (1991) The M-twist gene of Mus is expressed in subsets of mesodermal cells and is closely related to the Xenopus X-twi and Drosophila twist genes. Dev. Biol., 143, 363-373.
3. Hopwood, N.D., Pluck, A. and Gurdon, J.B. (1989) A Xenopus mRNA related to Drosophila twist is expressed in response to induction in the mesoderm and the neural crest, Cell, 59, 893-903.
4. Bourgeois, P., Sloetzel, C., Bolcato-Bellemin, A.-L., Mattéi, M.-G. and Perrin-Schmitt, F. (1996) The human H-twist gene is located at 7p21 and encodes a b-HLH protein which is 96% similar to its murine counterpart. Mamm. Genome, 7, 915-917.
5. Murre, C., McCaw, P.S. and Baltimore, D. (1989) A new DNA binding and dimerisation motif in immunoglobulin enhancer binding, daughterless. MyoD and myc proteins. Cell, 56, 777-783.
6. Stoetzel, C., Weber, B., Bourgeois, P., Bolcato-Bellemin, A.L. and Perrin-Schmitt, F. (1995) Dorso-ventral and rostro-caudal sequential expression of M-twist in postimplanted murine embryos, Mech. Dev., 51, 251-263.
7. Füchtbauer, E.M. (1995) Expression of M-twist during postimplantation development of the mouse. Dev. Dynam., 204, 316-322.
8. Gitelman, I. (1997) Twist protein in mouse embryogenesis. Dev. Biol., 189, 205-214.
9. Nüsslein-Volhard, C., Wieschaus, E. and Kluding, H. (1984) Mutations affecting the pattern of the larval cuticle in Drosophila melanogaster. Wilhelm Roux's Arch. Dev. Biol., 193, 267-282,
10. Simpson, P. (1983) Maternal-zygotic gene interactions during formation of the dorsoventral pattern in Drosophila embryos. Genetics, 105,615-632.
11. Thisse, B., Stoetzel, C., Gorostiza-Thisse, C. and Perrin-Schmitt, F. (1988) Sequence of the twist gene and nuclear localization of its protein in endomesodermal cells of early Drosophila embryos. EMBO J., 77,2175-2183.
12. Thisse, B., Stoetzel, C., El Messal, M. and Perrin-Schmitt, F. (1987) Genes of the Drosophila maternal dorsal group control the specific expression of the zygotic gene twist in presumptive mesodermal cells. Genes Dev., 1,709-715.
13. Thisse, C., Perrin-Schmitt. F., Stoetzel, C. and Thisse, B. (1991) Sequence-specific transactivation of the Drosophila twist gene by the dorsal gene product, Cell, 65, 1191-1201.
14. Jiang, J., Kosman, D., Ip, Y.T. and Levine, M. (1991) The dorsal morphogen gradient regulates the mesoderm determinant twist in early Drosophila embryos. Genes Dev., 5, 1881-1891.
15. Ip, T., Park, R.E., Kosman, D., Yazdanbakhsh, K. and Levine, M. (1992) dorsal-twist interactions establish snail expression in the presumptive mesoderm of the Drosophila embryo. Genes Dev., 6, 1518-1530.
16. Leptin, M. (1991) twist and snail as positive and negative regulators during Drosophila mesoderm development. Genes Dev., 5, 1568-1576.
17. Dunin Borkowski, O.M., Brown, N.H. and Bate, M. (1995) Anterior-posterior subdivision and the diversification of the mesoderm in Drosophila. Development, 121, 4183-4193.
18. Baylies, M.K, and Bate, M. (1996) twist: a myogenic switch in Drosophila. Science,272, 1481-1484.
19. Perrin-Schmitt, F., Bolcato-Bellemin, A.L., Bourgeois, P., Stoetzel, C. and Danse, J.M. (1997) The locations of the H-twist and H-dermo-l genes are distinct on the human genome. Biochim. Biophys. Acta, 1360, 1-2.
20. El Ghouzzi, V., Le Merrer, M., Perrin-Schmitt, F., Lajeunie, E., Benit, P., Renier, D., Bourgeois, P., Bolcato-Bellemin, A.L., Munnich, A. and Bonaventure. J. (1997) Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nature Genet., 15, 42-46.
21. Howard,T.D., Paznekas, W.A., Green, E.D., Chiang, L.C., Ma. N.. De Luna, R.I.O., Delgado, C.G., Gonzales-Ramos, M., Kline, A.D. and Jabs, E.W. (1997) Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nature Genet., 15, 36-41.
22. Rose, C.S.P., Reardon, W., Malcolm, S. and Winter, R.M. (1997) The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases. Hum. Mol. Genet., 8, 1369-1373.
23. Krebs, I., Weis, I., Hudler, M., Rommens, J.M., Rolh, H., Scherer, S.W.,Tsui. L.C., Füchtbauer, E.M., Grzeschik, K.H., Tsuji, K. and Kunz, J. (1997) Translocation breakpoint maps 5 kb 3′ from TWIST in a patient affected with Saethre-Chotzen syndrome. Hum. Mol. Genet., 6, 1079-1086.
24. Reardon, W. and Winter, R.M. (1994) Saethre-Chotzen syndrome. J. Med Genet., 31. 393-396.
25. Chotzen, F. (1932) Eine eigenartige familiäre Entwicklungsstörung ( Akrocephalosyndaktylie, Dysostosis, Craniofacialis und Hypertelorismus). Monatsschr. Kinderheidkd., 55, 97-122.
26. Bartsocas, C.S., Weber, A.L. and Crawford. J.D. (1970) Chotzen's syndrome. J. Pediat., 77, 267-272.
27. Inouye, M. (1976) Differential staining of cartilage and bone in fetal mouse skeleton by alcyan blue and alizarin red. Congenital Anomalies, 16. 171-173.
28. Fukuta, K., Goto. N., Inoue. T., Imamura, K., Mikami, H. and Onishi, A. (1988) Appearance of interftontal bone in chimeric mouse. Jikken Dob., 37, 165-170.
29. Allin, E.P, (1975) Evolution of the mammalian middle ear. J. Morphol., 4, 403-437.
30. Trainor, P.A., Tan, S.S. and Tarn, P.P.L (1994) Cranial paraxial mesoderm: regionalisation of cell fate and impact on craniofacial development in mouse embryos, Development, 120, 2397-2408.
31. Trainor, P.A. and Tam, P.P.L. (1995) Cranial paraxial mesoderm and neural crest cells of the mouse embryo: co-distribution in the craniofacial mesenchyme but distinct segregation in branchial arches. Development, 121, 2569-2582.
32. Hinchliffe, J.R. and Johnson, D.R. (1980) The Development of the Vertebrate Limb. Clarendon Press, Oxford, UK.
33. Hinchliffe, J.R. (1994) Evolutionary developmental biology of tetrapod limb. Development, (suppl.), 163-168.
34. Zeller, R. and Duboule, D. (1997) Dorso-ventral limb polarity and origin of the ridge: on the fringe of independence? BioEssays, 7, 541-546.
35. Goldfarb, M. (1996) Functions of fibroblast growth factors in vertebrate development. Cvtokine Growth Factor Rev., 4, 311-325.
36. Eichele, G. (1989) Retinoids and vertebrate limb pattern formation. Trends Genet., 8, 246-251.
37. Tickle, C., Lee, J. and Eichele, G. (1985) A quantitative analysis of the effect of all-(trans-retinoic acid on the pattern of chick wing development. Dev. Biol., 1, 82-95.
38. Ros, M.A., Lopez-Martines. A., Simandl, B.K., Rodriguez, C., Belmonte, R.C.I.. Dahn, R. and Fallon, J.F. (1996) The limb field mesodem determines initial limb bud anteroposterior asymmetry and budding independent of sonic hedgehog or apical ectodermal gene expressions. Development, 122, 2319-2330.
39. Yang, Y. and Niswander, L. (1995) Interaction between the signalling molecules WNT7a and SHH during vertebrate limb development: dorsal signals regulate anteroposterior patterning. Cell, 80, 939-947.
40. Oliver, G., Wright, C.V.E., Hardwicke, J. and De Robertis, E.M. (1988) A gradient of homeo domain protein in developing forelimbs of Xenopus and mouse embryos. Cell, 55, 1017-1024.
41. Oliver, G., Sidell, N., Fiske, W., Heinzmann, C., Mohandas, T., Sparkes, R.S. and De Robertis, E.M. (1989) Complementary homeo protein gradients in developing limb buds, Genes Dev., 3, 641-650.
42. Wedden, S., Pang. K. and Eichele, G. (1989) Expression pattern of homeobox containing genes during chick embryogenesis. Development, 105,639-650.
43. Noden, D. (1988) Interactions and fates of avian craniofacial mesenchyme. Development, 103 (suppl.), 121-140.
44. Mattei, M.-G., Stoetzel, C. and Perrin-Schmitt, F. (1993) The B-HLH protein encoding M-twist gene is located by in situ hybridization on murine chromosome 12. Mamm. Genome, 4, 127-128.
45. Helwig, V, Imai, K., Schmahl), W., Thomas, B.E., Vannum, D.S., Nadeau. J.H. and Balling, R. (1995) Interaction between undulated and Patch leads to an extreme form of spina bifida in double mutant mice. Nature Genet., 11, 60-63.
46. Lufkin, T., Mark, M., Hart, C.P., Dolle, P., LeMeur, M. and Chambon, P. (1992) Homeotic transformation of the occipital bones of the skull by ectopic expression of a homeobox gene. Nature, 359, 835-841.
47. Tanaka, Y, Naruse, I., Maekawa, T., Masuya, H., Shiroishi, T. and Ishii, S. (1997) Abnormal skeletal patterning in embryos lacking a single Cbp allele: a partial similarity with Rubinstein-Taybi syndrome. Proc. Natl Acad, Sci. USA, 94. 10215-10220.
48. Petrij, F., Giles, R.H., Dauwerse, H.G., Saris. J.J., Hennekam, R.C., Masuno, M., Tommerup, N., van Ommen, G.B., Goodman, R.H., Peters, D.J.M. and Breuning, M.H. (1995) Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature, 376, 348-351.
49. Hennekam, R.C., Van den Boogaard, M.J., Sibbles, B.J. and Van Spijker, H.G. (1990) Rubinstein-Taybi syndrome in the Netherlands. Am. J. Med. Genet., 6 (suppl.), 17-29.
50. Rivera-Pérez, J.A., Mallo, M., Gendron-Maguire, M., Gridley, T. and Behringer, R.R. (1995) goosecoid is not an essential component of the mouse gastrula organizer but is required for craniofacial and rib development. Development. 121, 3005-3012.
51. Yamada, G., Mansouri, A., Torres, M., Stuart, E.T., Blum, M., Schultz, M., De Robertis, E.M. and Gruss, P. (1995) Targeted mutation of the murine goosecoid gene results in craniofacial defects and neonatal death. Development, 121, 2917-2922.
52. Wilke, A.O.M. (1997) Craniosynostosis: genes and mechanisms. Hum. Mol. Genet., 10, 1647-1656.
53. Reddy, G., Smith, D.B., Rich, M.M., Leferovitch, J.M., Reilly, P., Davis, B.M., Tran, K., Rayburn, H., Bronson, R., Cros, D., Balice-Gordon, R.J. and Housman, D. (1996) Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy. Nature Genet., 13, 325-335.
54. Jansen, G. (1996) Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. Nature Genet., 13, 316-324.
55. Deng, C.X., Wynshaw-Boris, A., Zhou, F., Kuo, A. and Leder, P. (1996) Fibroblast growth factor receptor 3 is a negative regulator of bone growth. Cell, 84, 911-921.
56. Colvin, J.S., Bohne, B.A., Harding, G.W., McEwen, D.G.and Ornitz, D.M. (1996) Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3. Nature Genet., 12, 390-397.
57. Wynshaw-Boris, A. (1996) Model mice and human disease. Nature Genet., 13, 259-260.
58. Darling, S. (1996) Mice as model of human developmental disorders: natural and artificial mutants. Curr. Opin. Genet. Dev., 6, 289-294.
59. Sambrook, J., Fritsch, E.F. and Maniatis, T. (1989) Molecular Cloning: A Laboratory Manual, 2nd edn. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
60. Jegalian, B.G. and De Robertis, E.M. (1992) Homeotic transformations in the mouse induced by overexpression of a human Hox3.3 transgene. Cell, 71, 901-910.