Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome

Gastroenterology

Volumn 116, Issue 5, 1999, Pages 1141-1148

  Crosnier, C ^a   Driancourt, C ^a   Raynaud, N ^a   Dhorne Pollet, S ^a   Pollet, N ^a   Bernard, O ^a   Hadchouel, M ^a   Meunier Rotival, M ^a  

^a INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALAGILLE SYNDROME; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL FEATURE; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; TISSUE DISTRIBUTION;

EID: 0032930909     PISSN: 00165085     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0016-5085(99)70017-X     Document Type: Article

References (30)

1. D Alagille A Estrada M Hadchouel M Gautier M Odièvre JP Dommergues Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases J Pediatr 110 1987 195 200
2. S Dhorne-Pollet JF Deleuze M Hadchouel C Bonaïti-Pellié Segregation analysis of Alagille syndrome J Med Genet 31 1994 453 457
3. DM Danks PE Campbell I Jack J Rogers L Smith Studies of the aetiology of neonatal hepatitis and biliary atresia Arch Dis Child 52 1977 360 367
4. S Schnittger C Höfers P Heidemann F Beermann I Hansmann Molecular and cytogenetic analysis of an interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia (Alagille syndrome) Hum Genet 83 1989 239 244
5. F Zhang JF Deleuze A Aurias AM Dutrillaux RN Hugon D Alagille G Thomas M Hadchouel Interstitial deletion of the short arm of chromosome 20 in arteriohepatic dysplasia (Alagille syndrome) J Pediatr 116 1990 73 77
6. F Anad J Burn D Matthews I Cross BCC Davison R Mueller M Sands DM Lillington E Eastham Alagille syndrome and deletion of 20p J Med Genet 27 1990 729 737
7. FA Hol BCJ Hamel MPA Geurds I Hansmann FAE Nabben O Daniëls ECM Mariman Localization of Alagille syndrome in 20p11.2-p12 by linkage analysis of a three-generation family Hum Genet 95 1995 687 690
8. EB Rand NB Spinner DA Piccoli PF Whitington R Taub 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 1995 1068 1073
9. N Pollet S Dhorne-Pollet JF Deleuze C Boccaccio C Driancourt N Raynaud D Le Paslier M Hadchouel M Meunier-Rotival Construction of a 3.7-Mb physical map within human chromosome 20p12 ordering 18 markers in the Alagille syndrome locus Genomics 27 1995 467 474
10. N Pollet C Boccaccio S Dhorne-Pollet C Driancourt N Raynaud C Auffray M Hadchouel M Meunier-Rotival Construction of an integrated physical and gene map of human chromosome 20p12 providing candidate genes for Alagille syndrome Genomics 42 1997 489 498
11. L Li LA Milner Y Deng M Iwata A Banta L Graf S Marcovina C Friedman BJ Trask L Hood B Torok-Storb The human homolog of rat Jagged1 expressed by marrow stroma inhibits differentiation of 32D cells through interaction with Notch1 Immunity 8 1998 43 55
12. T Oda AG Elkahloun PS Meltzer SC Chandrasekharappa Identification and cloning of the human homolog (JAG1) of the rat Jagged1 gene from the Alagille syndrome critical region in 20p12 Genomics 43 1997 376 379
13. CE Lindsell CJ Shawber J Boulter G Weinmaster Jagged: a mammalian ligand that activates Notch1 Cell 80 1995 909 917
14. T Oda AG Elkahloun BL Pike K Okajima ID Krantz A Genin DA Piccoli PS Meltzer NB Spinner FS Collins SC Chandrasekharappa Mutations in the human Jagged1 gene are responsible for Alagille syndrome Nat Genet 16 1997 235 242
15. L Li ID Krantz Y Deng A Genin AM Banta CC Collins M Qi BJ Trask WL Kuo J Cochran T Costa MEM Pierpont EB Rand DA Piccoli L Hood NB Spinner Alagille syndrome is caused by mutations in human Jagged1 , which encodes a ligand for Notch1 Nat Genet 16 1997 243 251
16. ID Krantz RP Colliton A Genin EB Rand L Li DA Piccoli NB Spinner Spectrum and frequency of Jagged1 (JAG1) mutations in Alagille syndrome patients and their families Am J Hum Genet 62 1998 1361 1369
17. ZR Yuan T Kohsaka T Ikegaya T Suzuki S Okano J Abe N Kobayashi M Yamada Mutational analysis of the Jagged1 gene in Alagille syndrome families Hum Mol Genet 7 1998 1363 1369
18. SE Antonarakis Nomenclature Working Group Recommendations for a nomenclature system for human gene mutations Hum Mutat 11 1998 1 3
19. AL Beaudet Ad Hoc Committee on Mutation Nomenclature Update on nomenclature for human mutations Hum Mutat 8 1996 197 202
20. FJ Cameron RM Hageman C Cooke-Yarborough C Kwok LL Goodwin DO Sillence AH Sinclair A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal Hum Mol Genet 10 1996 1625 1630
21. JRW Yates I van Bakel T Sepp SJ Payne DW Webb NC Nevin AJ Green Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis Hum Mol Genet 6 1997 2265 2269
22. ID Krantz EB Rand A Genin P Hunt M Jones AA Louis JM Graham Jr S Bhatt DA Piccoli NB Spinner Deletions of 20p12 in Alagille syndrome: frequency and molecular characterization Am J Med Genet 70 1997 80 86
23. C Klein MF Brin D de Leon SA Limborska IA Ivanova-Smolenskaya SB Bressman A Friedman ED Markova NJ Risch XO Breakefield LJ Ozelius De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia Hum Mol Genet 7 1998 1133 1136
24. GA Fichant Constraints acting on the exon positions of the splice site sequences and local amino acid composition of the protein Hum Mol Genet 1 1992 259 267
25. ST Henderson D Gao EJ Lambie J Kimble Lag-2 may encode a signaling ligand for the GLP-1 and LIN-12 receptors of C. elegans Development 120 1994 2913 2924
26. S Artavanis-Tsakonas Alagille syndrome: a notch up for the Notch receptor Nat Genet 16 1997 212 213
27. X Sun S Artavanis-Tsakonas The intracellular deletions of DELTA and SERRATE define dominant negative forms of the Drosophila Notch ligands Development 122 1996 2465 2474
28. MJ Ruiz-Echevarria CI Gonzalez SW Peltz Identifying the right stop: determining how the surveillance complex recognizes and degrades an aberrant mRNA EMBO J 17 1998 575 589
29. P Zerr JP Adelman J Maylie Episodic ataxia mutations in Kv1.1 alter potassium channel function by dominant negative effects or haploinsufficiency J Neurosci 18 1998 2842 2848
30. E Fan DB Levin BW Glickman DM Logan Limitations in the use of SSCP analysis Mutat Res 288 1993 85 92