Mutation of HAIRY-AND-ENHANCER-OF-SPLIT-7 in humans causes spondylocostal dysostosis

Human Molecular Genetics

Volumn 17, Issue 23, 2008, Pages 3761-3766

  Sparrow, Duncan B ^a,b   Guillén Navarro, Encarna ^c   Fatkin, Diane ^a,b,d   Dunwoodie, Sally L ^a,b  

^a VICTOR CHANG CARDIAC RESEARCH INSTITUTE   (Australia)

^b UNIVERSITY OF NEW SOUTH WALES   (Australia)

^c HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^d ST VINCENT S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

NOTCH RECEPTOR; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR HES 7; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CONTROLLED STUDY; DNA BINDING; GENE FUNCTION; GENE MAPPING; GENE REPRESSION; GENE TARGETING; HUMAN; JARCHO LEVIN SYNDROME; MISSENSE MUTATION; MUTANT; NEGATIVE FEEDBACK; NONHUMAN; POLYMERIZATION; PRIORITY JOURNAL; PROTEIN DOMAIN; RISK FACTOR; SIGNAL TRANSDUCTION;

AMINO ACID SEQUENCE; ANIMALS; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; CELL LINE; CHILD, PRESCHOOL; DYSOSTOSES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; HUMANS; MICE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ALIGNMENT; SIGNAL TRANSDUCTION; SPINE;

EID: 56049123626     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn272     Document Type: Article

References (26)

1. Turnpenny, P.D., Alman, B., Cornier, A.S., Giampietro, P.F., Offiah, A., Tassy, O., Pourquie, O., Kusumi, K. and Dunwoodie, S. (2007) Abnormal vertebral segmentation and the notch signaling pathway in man. Dev. Dyn., 236, 1456-1474.
2. Bulman, M.P., Kusumi, K., Frayling, T.M., McKeown, C., Garrett, C., Lander, E.S., Krumlauf, R., Hattersley, A.T., Ellard, S. and Turnpenny, P.D. (2000) Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nat. Genet., 24, 438-441.
3. Sparrow, D.B., Clements, M., Withington, S.L., Scott, A.N., Novotny, J., Sillence, D., Kusumi, K., Beddington, R.S. and Dunwoodie, S.L. (2002) Diverse requirements for Notch signalling in mammals. Int. J. Dev. Biol., 46, 365-374.
4. Whittock, N.V., Sparrow, D.B., Wouters, M.A., Sillence, D., Ellard, S., Dunwoodie, S.L. and Turnpenny, P.D. (2004) Mutated MESP2 causes spondylocostal dysostosis in humans. Am. J. Hum. Genet., 74, 1249-1254.
5. Sparrow, D.B., Chapman, G., Wouters, M.A., Whittock, N.V., Ellard, S., Fatkin, D., Turnpenny, P.D., Kusumi, K., Sillence, D. and Dunwoodie, S.L. (2006) Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. Am. J. Hum. Genet., 78, 28-37.
6. Tassabehji, M., Fang, Z.M., Hilton, E.N., McGaughran, J., Zhao, Z., de Bock, C.E., Howard, E., Malass, M., Donnai, D., Diwan, A. et al. (2008) Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. Hum. Mut., 29 1017-27.
7. Sparrow, D.B., Chapman, G., Turnpenny, P.D. and Dunwoodie, S.L. (2007) Disruption of the somitic molecular clock causes abnormal vertebral segmentation. Birth Defects Res. C Embryo Today, 81, 93-110.
8. Dequeant, M.L., Glynn, E., Gaudenz, K., Wahl, M., Chen, J., Mushegian, A. and Pourquie, O. (2006) A complex oscillating network of signaling genes underlies the mouse segmentation clock. Science, 314, 1595-1598.
9. Bolos, V., Grego-Bessa, J. and de la Pompa, J.L. (2007) Notch signaling in development and cancer. Endocrin. Rev., 28, 339-363.
10. Davis, R.L. and Turner, D.L. (2001) Vertebrate hairy and Enhancer of split related proteins: Transcriptional repressors regulating cellular differentiation and embryonic patterning. Oncogene, 20, 8342-8357.
11. Fischer, A. and Gessler, M. (2007) Delta-Notch-and then? Protein interactions and proposed modes of repression by Hes and Hey bHLH factors. Nucleic Acids Res., 35, 4583-4596.
12. Bessho, Y., Sakata, R., Komatsu, S., Shiota, K., Yamada, S. and Kageyama, R. (2001) Dynamic expression and essential functions of Hes7 in somite segmentation. Genes Dev., 15, 2642-2647.
13. Dunwoodie, S.L., Clements, M., Sparrow, D.B., Sa, X., Conlon, R.A. and Beddington, R.S. (2002) Axial skeletal defects caused by mutation in the spondylocostal dysplasia/pudgy gene D113 are associated with disruption of the segmentation clock within the presomitic mesoderm. Development, 129, 1795-1806.
14. Jouve, C., Palmeirim, I., Henrique, D., Beckers, J., Gossler, A., Ish-Horowicz, D. and Pourquie, O. (2000) Notch signalling is required for cyclic expression of the hairy-like gene HES1 in the presomitic mesoderm. Development, 127, 1421-1429.
15. Lander, E.S. and Botstein, D. (1987) Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children. Science, 236, 1567-1570.
16. Hamblet, N.S., Lijam, N., Ruiz-Lozano, P., Wang, J., Yang, Y., Luo, Z., Mei, L., Chien, K.R., Sussman, D.J. and Wynshaw-Boris, A. (2002) Dishevelled 2 is essential for cardiac outflow tract development, somite segmentation and neural tube closure. Development, 129 5827-5838.
17. Malbon, C.C. and Wang, H.Y. (2006) Dishevelled: A mobile scaffold catalyzing development. Curr. Top. Dev. Biol., 72, 153-166.
18. George, R.A., Liu, J.Y., Feng, L.L., Bryson-Richardson, R.J., Fatkin, D. and Wouters, M.A. (2006) Analysis of protein sequence and interaction data for candidate disease gene prediction. Nucleic Acids Res., 34, e130.
19. Collins, J.S. and Schwartz, C.E. (2002) Detecting polymorphisms and mutations in candidate genes. Am. J. Hum. Genet., 71, 1251-1252.
20. Ellenberger, T., Fass, D., Arnaud, M. and Harrison, S.C. (1994) Crystal structure of transcription factor E47: E-box recognition by a basic region helix-loop-helix dimer. Genes Dev., 8, 970-980.
21. Longo, A., Guanga, G.P. and Rose, R.B. (2008) Crystal structure of E47-NeuroD1/beta2 bHLH domain-DNA complex: Heterodimer selectivity and DNA recognition. Biochemistry, 47, 218-229.
22. Paznekas, W.A., Cunningham, M.L., Howard, T.D., Korf, B.R., Lipson, M.H., Grix, A.W., Feingold, M., Goldberg, R., Borochowitz, Z., Aleck, K. et al. (1998) Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. Am. J. Hum. Genet., 62, 1370-1380.
23. Bessho, Y., Miyoshi, G., Sakata, R. and Kageyama, R. (2001) Hes7: a bHLH-type repressor gene regulated by Notch and expressed in the presomitic mesoderm. Genes Cells, 6, 175-185.
24. Gray, P.A., Fu, H., Luo, P., Zhao, Q., Yu, J., Ferrari, A., Tenzen, T., Yuk, D.I., Tsung, E.F., Cai, Z. et al. (2004) Mouse brain organization revealed through direct genome-scale TF expression analysis. Science, 306, 2255-2257.
25. Ishibashi, M., Ang, S.L., Shiota, K., Nakanishi, S., Kageyama, R. and Guillemot, F. (1995) Targeted disruption of mammalian hairy and Enhancer of split homolog-1 (HES-1) leads to up-regulation of neural helix-loop-helix factors, premature neurogenesis, and severe neural tube defects. Genes Dev., 9, 3136-3148.
26. Paskulin, G.A., Zen, P.R.G., Rosa, R.F.M., Manique, R.C. and Cotter, P.D. (2007) Report of a child with a complete de novo 17p duplication localized to the terminal region of the long-arm of chromosome 17. Am. J. Med. Genet. A, 143A, 1366-1370.