Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families

American Journal of Human Genetics

Volumn 62, Issue 6, 1998, Pages 1361-1369

  Krantz, Ian D ^a   Colliton, Raymond P ^a   Genin, Anna ^a   Rand, Elizabeth B ^a   Li, Linheng ^b   Piccoli, David A ^a   Spinner, Nancy B ^a,c  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALAGILLE SYNDROME; ARTICLE; DNA SEQUENCE; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SIGNAL TRANSDUCTION;

EID: 0031778069     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301875     Document Type: Article

References (31)

1. Alagille D, Estrada A, Hadchouel M, Gautier M, Odievre M, Dommergues JP (1987) Syndromic paucity of interlobular bile ducts. J Pediatr 110:195-200
2. Alagille D, Odievre M, Gautier M, Dommergues JP (1975) Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur. J Pediatr 86: 63-71
3. Anad F, Burn J, Matthews D, Cross I, Davison BCC, Mueller R, Sands M, et al (1990) Alagille syndrome and deletion of 20p. J Med Genet 27:729-737
4. Artavanis-Tsakonas S, Matsuno K, Fortini ME (1995) Notch signaling. Science 268:225-232
5. Beaudet AL, Tsui LC (1993) A suggested nomenclature for designating mutations. Hum Mutat 2:245-248
6. Becker K-F (1996) Nonradioactive protein truncation test (nrPTT) for rapid detection of gene mutations. Trends Genet 12:250
7. Byrne JLB, Harrod MJE, Friedman JM, Howard-Peebles PN (1986) Del(20p) with manifestations of arteriohepatic dysplasia. Am J Med Genet 24:673-678
8. Danks DM, Campbell PE, Jack I, Rogers J, Smith AL (1977) Studies of the aetiology of neonatal hepatitis and biliary atresia. Arch Dis Child 52:360-367
9. Dhorne-Pollet S, Deleuze J-F, Hadchouel M, Bonaiti-Pellie C (1994) Segregation analysis of Alagille syndrome. J Med Genet 31:453-457
10. Ellisen LW, Bird J, West DC, Soreng AL, Reynolds TC, Smith SD, 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
11. Elmslie FV, Vivian AJ, Gardiner H, Hall C, Mowat AP, Winter RM (1995) Alagille syndrome: family studies. J Med Genet 32:264-268
12. Hol FA, Hamel BCJ, Geurds MPA, Hansmann I, Nabben FAE, Daniels O, Mariman ECM (1995) Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family. Hum Genet 95:687-690
13. Joutel A, Corpechot C, Docros A, Vahedi K, Chabriat H, Mouton P, Alamowitch S, et al (1996) Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 383:707-710
14. Kopan R, Weintraub H (1993) Mouse Notch: expression in hair follicles correlates with cell fate determination. J Cell Biol 121:631-641
15. Krantz ID, Piccoli DA, Spinner NB (1997a) Syndrome of the month: Alagille syndrome. J Med Genet 34:152-157
16. Krantz ID, Rand EB, Genin A, Hunt P, Jones M, Louis AA, Graham JM, et al (1997b) Deletions of 20p12 in Alagille syndrome: frequency and molecular characterization. Am J Med Genet 70:80-86
17. Legius E, Fryns F-P, Eyskens B, Eggermont E, Desmet V, de Bethune G, Van den Berghe H (1990) Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2). Am J Med Genet 35:532-535
18. Li L, Krantz ID, Yu D, Genin A, Banta AB, Collins CC, Ming Q, et al (1997) Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet 16:243-250
19. Lindsell CE, Shawber CJ, Boulter J, Weinmaster G (1995) Jagged: a mammalian ligand that activates Notch1. Cell 80: 909-917
20. Muskavitch MAT (1994) Delta-Notch signaling and Drosophila cell fate choice. Dev Biol 166:415-430
21. Oda T, Elkahloun AG, Pike BL, Okajima K, Krantz ID, Genin A, Piccoli DA, et al (1997) Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet 16: 235-242
22. Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T (1989) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 86:2766-2770
23. Rand EB, Spinner NB, Piccoli DA, Whitington PF, Taub R (1995) Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12. Am J Hum Genet 57:1068-1073
24. Robey E, Chang D, Itano A, Cado D, Alexander H, Lans D, Weinmaster G, et al (1996) An activated form of Notch influences the choice between CD4 and CD8 T cell lineages. Cell 87:483-492
25. Roest PAM, Roberts RG, Sugino S, van Ommen GJB, den Dunnen JT (1993) Protein truncation test (PTT) for rapid detection of translation-terminating mutations. Hum Mol Genet 2:1719-1721
26. Schnittger S, Hofers C, Heidemann P, Beermann F, Hansmann I (1989) Molecular and cytogenetic analysis of an interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia (Alagille syndrome). Hum Genet 83: 239-244
27. Shulman SA, Hyams JS, Gunta R, Greenstein RM, Cassidy SB (1984) Arteriohepatic dysplasia (Alagille syndrome): extreme variability among affected family members. Am J Med Genet 19:325-332
28. Spinner NB, Rand EB, Fortina P, Genin A, Taub R, Semeraro A, Piccoli DA (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
29. Sun X, Artavanis-Tsakonas S (1996) The intracellular deletions of DELTA and SERRATE define dominant negative forms of the Drosophila Notch ligands. Development 122: 2465-2474
30. Teebi AS, Murthy DSK, Ismail EAR, Redha AA (1992) Alagille syndrome with de novo del(20) (p11.2). Am J Med Genet 42:35-38
31. Zhang F, Deleuze J-F, Aurias A, Dutrillaux A-M, Hugon R-N, Alagille D, Thomas G, et al (1990) Interstitial deletion of the short arm of chromosome 20 in arteriohepatic dysplasia (Alagille syndrome). J Pediatr 116:73-77