Mutational analysis of the Jagged 1 gene in Alagille syndrome families

Human Molecular Genetics

Volumn 7, Issue 9, 1998, Pages 1363-1369

  Yuan, Zeng Rong ^a   Kohsaka, Takao ^a,b   Ikegaya, Takeshi ^b   Suzuki, Teruaki ^b   Okano, Sachiko ^b   Abe, Jun ^a   Kobayashi, Noboru ^b   Yamada, Masao ^a  

^a NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b NATIONAL CHILDREN S HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE;

ALAGILLE SYNDROME; ARTICLE; CLINICAL ARTICLE; CODON; DNA SEQUENCE; EXON; EYE; FACE; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; HEART; HUMAN; LIVER; MALE; NONSENSE MUTATION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; VERTEBRA;

ALAGILLE SYNDROME; BASE SEQUENCE; CALCIUM-BINDING PROTEINS; CODON, NONSENSE; DNA; DNA PRIMERS; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENES, DOMINANT; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE PROTEINS; MUTATION; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS; RNA SPLICING;

EID: 0031705770     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.9.1363     Document Type: Article

References (36)

1. Alagille, D., Estrada, A., Hadchonel, M., Gautier, M., Odievre, A.M. and Dommergues, J.P. (1987) Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases. J. Pediat., 110, 195-200.
2. Alagille, D. (1996) Alagille syndrome today. Clin. Invest. Med., 19, 325-330.
3. Dhome-Pollet, S., Deleuze, J.F., Hadchouel, M. and Bonaiti-Pellie, C. (1994) Segregation analysis of Alagille syndrome. J. Med. Genet., 31, 453-457.
4. Anad, F., Burn, J., Matthews, D., Cross, I., Davison, B.C., Mueller, R., Sands, M. Lillington, D.M. and Eastham, E. (1990) Alagille syndrome and deletion of 20p. J. Med. Genet., 27, 729-737.
5. Byrne, J.L., Harrod, M.J., Friedman, J.M. and Howard-Peebles, P.N. (1986) Del(20p) with manifestations of arteriohepatic dysplasia. Am. J. Med. Genet., 24, 673-678.
6. Krantz, I.D., Rand, E.B., Genin, A., Hunt, P., Jones, M., Louis, A.A. and Graham, J.M. (1997) Deletion of 20p12 in Alagille syndrome: frequency and molecular characterization. Am. J. Med. Genet., 70, 80-86.
7. Legius, E., Fryns, J.R. Eyskens, B., Eggermont, E., Desmet, V., de-Bethune, G. and Van-den-Berghe, H. (1990) Alagille syndrome (arteriohepatic dysplasia) and del (20) (p11.2). Am. J. Med. Genet., 35, 532-535.
8. Schnittger, S., Hofers, C., Heidemann, P., Beermann, F. and Hansmann, I. (1989) Molecular and cytogenetic analysis of interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia (Alagille syndrome). Hum. Genet., 83, 239-244.
9. Zhang, F.R., Deleuze, J.F., Aurias, A., Dutrillaux, A.M., Hugon, R.N., Alagille, D., Thomas, G. and Hadchouel, M. (1990) Interstitial deletion of short arm of chromosome 20 in arteriohepatic dysplasia (Alagille syndrome). J. Pediat., 116, 73-77.
10. Spinner, N.B., Rand, E.B., Fortina, P., Genin, A., Taub, R., Semeraro, A. and Piccoli, D.A. (1994) Cytologically balanced t(2;20) in a two-generation family with Alagille syndrome: cytogenetic and molecular studies. Am. J. Hum Genet., 55, 238-243.
11. Deleuze, J.F., Hazan, J., Dhorne, S., Weissenbach, J. and Hadchouel, M. (1994) Mapping of microsatellite markers in the Alagille region and screening of microdeletion by genotyping 23 patients. Eur. J. Hum. Genet., 2, 185-190.
12. Desmaze, C., Deleuze, J.F., Dutrillaux, A.M., Thomas, G., Hadchouel, M. and Aurias, A. (1992) Screening of micro deletions of chromosome 20 in patients with Alagille syndrome. J. Med. Genet., 29, 233-235.
13. Rand, E.B., Spinner, N.B., Piccoli, D.A., Whitington, P.F. and Taub, R. (1995) Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and futher localizes the Alagille region within 20p12. Am. J. Hum Genet., 57, 1068-1073.
14. Hol, F.A., Hamel, B.C. Geurds, M.P.A., Hansmann, I., Nabben, F.A., Daniels, O. and Mariman, E.C. (1995) Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family. Hum. Genet., 95, 687-690.
15. Pollet, N., Deorne-Pollet, S., Deleuze, J., Boccaccio, C., Driancourt, C., Raynaud, N., Le-Paslier, D., Hadchouel, M. and Meunier-Rotival, M. (1995) Construction of a 3.7-Mb physical map within human chromosome 20p12 ordering 18 markers in the Alagille syndrome locus. Genomics, 27, 467-474.
16. Oda, T., Elkahloun, A.G., Meltzer, P.S. and Chandrasekharappa, S.C. (1997) Identification and cloning of the human homolog (JAG1) of the rat Jagged1 gene from the Alagille syndrome critical region at 20p12. Genomics, 43, 376-379.
17. Oda, T., Elkahloun, A.G., Pike, B.L., Okajima, K., Krants, I.D., Genin, A., Piccoli, D.A., Meltzer, P.S., Spinner, N.B., Collins, F.S. and Chandrasekharappa, S.C. (1997) Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nature Genet., 16, 235-242.
18. Li, L., Krantz, I.D., Deng, Y., Genin, A., Banta, A.B., Collins, C.C., Qi, M., Trask, B.J., Kuo, W.L., Cochran, J., Costa, T., Pierpont, M.E.M., Rand, E.B., Piccoli, D.A., Hood, L. and Spinner, N.B. (1997) Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nature Genet., 16, 243-251.
19. Gardella, R., Belletti, L., Zoppi, N., Marini, D., Barlati, S. and Colombi, M. (1996) Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa. Am. J. Hum. Genet., 59, 292-300.
20. Haire, R.N., Ohta, Y., Strong, S.J., Litman, R.T., Liu, Y., Prchal, J.T., Cooper, M.D. and Litman, G.W. (1997) Unusual patterns of exon skipping in Bruton Tyrosine Kinase are associated with mutations involving the intron 17 3′ splice site. Am. J. Hum Genet., 60, 798-807.
21. Gyapay, G., Morissette, J., Vignal, A., Dib, C., Fizames, C., Millasseau, P., Marc, S, Bernardi, G., Lathrop, M. and Weissenbach, J. (1994) The 1993-94 Genethon human genetic linkage map. Nature Genet., 7, 246-339.
22. Hazan, J., Dubay, C., Pankowiak, M.P., Becuwe, N. and Weissenbach, J. (1992) A genetic linkage map of human chromosome 20 composed entirely of microsatellite markers. Genomics. 12, 183-189.
23. NIH/CEPH Collaborative Mapping Group (1992) A comprehensive genetic linkage map of the human genome. Science, 258, 67-86.
24. Buetow, K.H., Weber, J.L., Ludwigsen, S., Scherpbier-Heddema, T., Duyk, G.M., Sheffield, V.C., Wang, Z. and Murray, J.C. (1994) Integrated human genome-wide maps constructed using the CEPH reference panel. Nature Genet., 6, 391-393.
25. Smith, C.L., Keith, T., Hansmann, I., Weissenbach, J., Asimakopoulos, F.A., Bowden, D.W., Deleuze, J.F., Dutton, E.R., Fasman, K.H. and Green, T. (1994) Report of the First International Workshop on Human Chromosome 20 Mapping 1993. Cytogenet. Cell Genet., 66, 78-82.
26. Weissenbach, J., Gyapay, G., Dib, C., Vignal, A., Morissette, J., Millasseau, P., Vaysseix, G. and Lathrop, M. (1992) A second-generation linkage map of the human genome. Nature, 359, 794-801.
27. Cohen, D., Chumakov, I. and Weissenbach, J. (1993) A first-generation physical map of the human genome. Nature, 359, 380-387.
28. Artavanis-Tsakonas, S., Matsuno, K. and Fortini, M.E. (1995) Notch signaling. Science, 268, 225-232.
29. Lindsell, C.E., Shawber, C.J., Boulter, J. and Weinmaster, G. (1995) Jagged: a mammalian ligand that activates Notch1. Cell, 80, 909-917.
30. Swiatek, P.J., Lindsell, C.E., del Amo, F., Weinmaster, G. and Gridley, T. (1994) Notch1 is essential for postimplantation development in mice. Genes Der., 8, 707-719.
31. Ellisen, L.W., Bird, J., West, D.C., Soreng, A.L., Reynolds, T.C., Smith, S.D. and Sklar, J. (1991) TAN-1, the human homolog of the Drosophila notch gene, is broken by chromosomal translocations in T lymphoblastic neoplasms. Cell, 66, 649-661.
32. Joutel, A., Corpechot, C., Ducros, A., Vahedi, K., Chabriat, H., Mouton, P., Alamowitch, S., Domenga, V., Cecillion, M., Marechal, E., Maciazek, J., Vayssiere, C. Cruaud, C., Cabanis, E.A., Ruchoux, M.M., Weissenbach, J., Bach, J.F. Bousser, M.G. and Toumier-Lasserve, E. (1996) Notch3 mutations in CADASIL. a hereditary adult-onset condition causing stroke and dementia. Nature, 383, 707-710.
33. Hadehouel, M. (1992) Paucity of interlobular bile ducts. Semin. Diagnostic Pathol., 9, 24-30.
34. Perez, B.E., Fuster, M., Fraga, M., Antunez, J., Pintos, E., Pavon, P. and Forteza, J. (1991) Alagille syndrome: a family case and its associated with hepatocellular carcinoma. Rev. Clin. Esp., 188, 459-462.
35. Alagille, D. (1985) Management of paucity of interlobular bile ducts. J. Hepatol., 1, 561-565.
36. Novotny, N.M., Zetterman, R.K., Antonson, D.L.and Vanderhoof, J.A. (1981) Variation in liver histology in Alagilles syndrome. Am. J. Gastroenterol., 75, 449-506.