NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

Nature Genetics

Volumn 36, Issue 6, 2004, Pages 636-641

  Tonkin, Emma T ^a   Wang, Tzu Jou ^a   Lisgo, Steven ^a   Bamshad, Michael J ^b   Strachan, Tom ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DE LANGE SYNDROME; DIPLOIDY; DNA SEQUENCE; EMBRYO PATTERN FORMATION; FACIES; GENE; GENE CONTROL; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENE NIPBL; GENE NIPPED B; GENE SCC2; GENETIC ANALYSIS; GENETIC CODE; GROWTH RETARDATION; HUMAN; HUMAN CELL; LIMB DEFECT; MENTAL RETARDATION MALFORMATION SYNDROME; MULTIPLE MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; ORTHOLOGY; PRIORITY JOURNAL; ROBERTS SYNDROME; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; SISTER CHROMATID;

ANIMALS; CELL CYCLE PROTEINS; CHROMOSOMES, HUMAN, PAIR 5; DE LANGE SYNDROME; DNA-BINDING PROTEINS; DROSOPHILA PROTEINS; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; PROTEINS; SACCHAROMYCES CEREVISIAE PROTEINS; SPECIES SPECIFICITY;

ANIMALIA; DANIO RERIO; FUNGI; MELANOGASTER; VERTEBRATA;

EID: 2642565901     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1363     Document Type: Article

References (30)

1. Jackson, L., Kline, A.D., Barr, M.A. & Koch, S. de Lange syndrome: a clinical review of 310 individuals. Am. J. Med. Genet. 47, 940-946 (1993).
2. Ireland, M., Donnai, D. & Burn, J. Brachmann-de Lange syndrome Delineation of the clinical phenotype. Am. J. Med. Genet. 47, 959-964 (1993).
3. Tonkin, E.T. et al. A giant novel gene undergoing extensive alternative processing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3. Hum. Genet. (in the press).
4. Ireland, M., English, C., Cross, I., Houlsby, W.T. & Burn, J. A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome. J. Med. Genet. 28, 639-640 (1991).
5. Wilson, W.G., Kennaugh, J.M., Kugler, J.P. & Wyandt, H.E. Reciprocal translocation 14q;21q in a patient with the Brachmann-de Lange syndrome. J. Med. Genet. 20, 469-471 (1983).
6. Steinbach, P. et al. The dup(3q) syndrome: report of eight cases and review of the literature. Am. J. Med. Genet. 10, 159-177 (1981).
7. Wilson, G.N., Dasouki, M. & Barr, M. Jr. Further delineation of the dup(3q) syndrome. Am. J. Med. Genet. 22, 117-123 (1985).
8. Kraiewska-Walasek, M., Chrzanowska, K., Tylki-Szymanska, A. & Bialecka, M. A further report of Brachmann-de Lange syndrome in two sibs with normal parents. Clin. Genet. 47, 324-327 (1995).
9. Ciosk, R. et al. Cohesin's binding to chromosomes depends on a separate complex consisting of Scc2 and Scc4 proteins. Mol. Cell 5, 243-254 (2000).
10. Furuya, K., Takahashi, K. & Yanagida, M. Faithful anaphase is ensured by Mis4, a sister chromatid cohesion molecule required in S phase and not destroyed in G1 phase. Genes Dev. 12, 3408-3418 (1998).
11. Seitz, L.C., Tang, K., Cummings, W.J. & Zolan, M.E. The rad9 gene of Coprinus cinereus encodes a proline-rich protein required for meiotic chromosome condensation and synapsis. Genetics 142, 1105-1117 (1996).
12. Rollins, R.A., Morcillo, P. & Dorsett, D. Nipped-B, a Drosophila homologue of chromosomal adherins, participates in activation by remote enhancers in the cut and Ultrabithorax genes. Genetics 152, 577-593 (1999).
13. Dorsett, D. Distant liaisons: long-range enhancer-promoter interactions in Drosophila. Curr. Opin. Genet. Dev. 9, 505-514 (1999).
14. Fougerousse, F. et al. Human-mouse differences in the embryonic expression patterns of developmental control genes and disease genes. Hum. Mol. Genet. 9, 165-173 (2000).
15. Luzzani, S., Macchini, F., Valade, A., Milani, D. & Selicorni, A. Gastroesophageal reflux and Cornelia de Lange syndrome: typical and atypical syndromes. Am. J. Med. Genet. 119A, 283-287 (2003).
16. Mehta, A.V. & Ambalavanan, S.K. Occurrence of congenital heart disease in children with Brachmann-de Lange syndrome. Am. J. Med. Genet. 71, 434-435 (1997).
17. Sataloff, R.T., Spiegel, J.R., Hawkshaw, M., Epstein, J.M. & Jackson, L. Cornelia de Lange syndrome. Otolaryngologic manifestations. Arch. Otolaryngol. Head Neck Surg. 116, 1044-1046 (1990).
18. Yamaguchi, K. & Ishitobi, F. Brain dysgenesis in Cornelia de Lange syndrome. Clin. Neuropathol. 18, 99-105 (1999).
19. Vuilleumier, N. et al. Neuropathological analysis of an adult case of the Cornelia de Lange syndrome. Acta Neuropathol. (Berl.) 104, 327-332 (2002).
20. Gebelein, B., Culi, J., Ryoo, H.D., Zhang, W. & Mann, R.S. Specificity of Distalless repression and limb primordia development by abdominal Hox proteins. Dev. Cell 3, 487-498 (2002).
21. Panganiban, G. & Rubinstein, J.L.R. Developmental functions of the Distal-less/Dlx homeobox genes. Development 129, 4371-4386 (2002).
22. Iulianella, A., Vanden Heuvel, G. & Trainor, P. Dynamic expression of murine Cux2 in craniofacial, limb, urogenital and neuronal primordia. Gene Expr. Patterns 3, 571-577 (2003).
23. Ellis, T. et al. The transcriptional repressor CDP (Cutl1) is essential for epithelial cell differentiation of the lung and the hair follicle. Genes Dev. 15, 2307-2319 (2001).
24. Rollins, R.A., Korom, M., Aulner, N., Martens, A. & Dorsett, D. Drosophila Nipped-B protein supports sister chromatid cohesion and opposes the Stromalin/Scc3 Cohesion factor to facilitate long-range activation of the cut gene. Mol. Cell. Biol. 24, 3100-3111 (2004).
25. Rooney D.E. (ed.) Human Cytogenetics: Constitutional Analysis. A Practical Approach. 3rd. edn. (Oxford University Press, Oxford, 2001).
26. Russell, K.L. et al. Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences. Am. J. Med. Genet. 104, 267-276 (2001).
27. Breitschopf, H., Suchanek, G., Gould, R.M., Colman, D.R. & Lassmann, H. In situ hybridization with digoxigenin-labeled probes: sensitive and reliable detection method applied to myelinating rat brain. Acta Neuropathol., 84, 581-587 (1992).
28. Lako, M. et al. A novel mammalian Wnt gene, WNT8B, shows brain-restricted expression in early development, with sharply delimited expression boundaries in the developing forebrain. Hum. Mol. Genet. 7, 813-822 (1998).
29. Van Allen, M.I. et al. Clinical variability within Brachmann-de Lange syndrome: a proposed classification system. Am. J. Med. Genet. 47, 947-958 (1993).
30. Allanson, J.E., Hennekam, R.C. & Ireland, M. De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes. J. Med. Genet. 34, 645-650 (1997).