Mutations in TWIST , a basic helix–loop–helix transcription factor, in Saethre-Chotzen syndrome

作者: Timothy D. Howard , William A. Paznekas , Eric D. Green , Lydia C. Chiang , Nancy Ma

DOI: 10.1038/NG0197-36

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摘要: Saethre-Chotzen syndrome is one of the most common autosomal dominant disorders craniosynostosis in humans and characterized by craniofacial limb anomalies. The locus for maps to chromosome 7p21–p22. We have evaluated TWIST, a basic helix–loop–helix transcription factor, as candidate gene this condition because its expression pattern mutant phenotypes Drosophila mouse are consistent with phenotype. mapped TWIST human 7p21–p22 mutational analysis reveals nonsense, missense, insertion deletion mutations patients. These occur within DNA binding, helix I loop domains, or result premature termination protein. Studies indicate that twist may affect fibroblast growth factor receptors (FGFRs), another family implicated craniosynostosis. emerging cascade molecular components involved development now includes which function an upstream regulator FGFRs.

参考文章(36)
Amy Feldman Lewanda, Wendy Mouradian, Murray Feingold, Ethylin Wang Jabs, Sterling K. Clarren, John A. Phillips, Jean Weissenbach, Eugene Taylor, Melinda Cohen, Heather Jerald, Marshall L. Summar, Eric D. Green, Evidence That the Saethre-Chotzen Syndrome Locus Lies between D7S664 and D7S507, by Genetic Analysis and Detection of a Microdeletion in a Patient American Journal of Human Genetics. ,vol. 55, pp. 1195- 1201 ,(1994)
M. Michael Cohen, Samuel Pruzansky, Craniosynostosis : diagnosis, evaluation, and management Oxford University Press. ,(1986)
B. Thisse, C. Stoetzel, C. Gorostiza-Thisse, F. Perrin-Schmitt, Sequence of the twist gene and nuclear localization of its protein in endomesodermal cells of early Drosophila embryos The EMBO Journal. ,vol. 7, pp. 2175- 2183 ,(1988) , 10.1002/J.1460-2075.1988.TB03056.X
L. A. Brueton, S. Malcolm, W. Reardon, R. M. Winter, C. S. P. Rose, J. Weissenbach, L. Van Herwerden, Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p-- and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q American Journal of Human Genetics. ,vol. 54, pp. 669- 674 ,(1994)
S.-I. Higashijima, E. Shishido, Y. Emori, K. Saigo, Two FGF-receptor homologues of Drosophila: one is expressed in mesodermal primordium in early embryos Development. ,vol. 117, pp. 751- 761 ,(1993) , 10.1242/DEV.117.2.751
Cheryl S. Reid, Lydia E. McMorrow, Donna M. McDonald-McGinn, Kimberly J. Grace, Feliciano J. Ramos, Elaine H. Zackai, M. Michael Cohen, Ethylin Wang Jabs, Saethre-Chotzen syndrome with familial translocation at chromosome 7p22. American Journal of Medical Genetics. ,vol. 47, pp. 637- 639 ,(1993) , 10.1002/AJMG.1320470511
Amy Feldman Lewanda, M.Michael Cohen, Charles E. Jackson, Eugene W. Taylor, Xiang Li, Michelle Beloff, Donald Day, Sterling K. Clarren, Rosa Ortiz, Constanza Garcia, Ellyn Hauselman, Alvaro Figueroa, Eric Wulfsberg, Melba Wilson, Matthew L. Warman, Bonnie L. Padwa, David A.H. Whiteman, John B. Mulliken, Ethylin Wang Jabs, Genetic heterogeneity among craniosynostosis syndromes : mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p Genomics. ,vol. 19, pp. 115- 119 ,(1994) , 10.1006/GENO.1994.1020
C. Stoetzel, B. Weber, P. Bourgeois, A.L. Bolcato-Bellemin, F. Perrin-Schmitt, Dorso-ventral and rostro-caudal sequential expression of M-twist in the postimplantation murine embryo Mechanisms of Development. ,vol. 51, pp. 251- 263 ,(1995) , 10.1016/0925-4773(95)00369-X
Ethylin Wang Jabs, Xiang Li, Alan F Scott, Gregory Meyers, Wendy Chen, Michael Eccles, Jen-i Mao, Lawrence R Charnas, Charles E Jackson, Michael Jaye, None, Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2 Nature Genetics. ,vol. 8, pp. 275- 279 ,(1994) , 10.1038/NG1194-275