Volume 116, Issue 5, Pages (May 1999)

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Volume 116, Issue 5, Pages 1141-1148 (May 1999) Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome Cécile Crosnier*, Catherine Driancourt*, Nicole Raynaud*, Sophie Dhorne–Pollet*, Nicolas Pollet*, Olivier Bernard‡, Michelle Hadchouel*, ‡, Michèle Meunier–Rotival* Gastroenterology Volume 116, Issue 5, Pages 1141-1148 (May 1999) DOI: 10.1016/S0016-5085(99)70017-X Copyright © 1999 American Gastroenterological Association Terms and Conditions

Fig. 1 Scheme of positions in the JAGGED1 protein of the 69 mutations identified in patients with AGS. SP, signal peptide; C-rich region, cysteine-rich region; TM, transmembrane domain; intracell., intracellular region. ○, Premature stop codon; ●, splice-site mutation; *, amino acid substitution. Gastroenterology 1999 116, 1141-1148DOI: (10.1016/S0016-5085(99)70017-X) Copyright © 1999 American Gastroenterological Association Terms and Conditions

Fig. 2 Examples of PCR-SSCP and heteroduplex (hdx) analyses of the JAGGED1 gene. (A) Exon 13: normal pattern (lanes 1 and 3) and A131r pattern with a delCT (lane 2). (B) Exon 17: normal pattern (lanes 1, 3, and 5), A8r pattern with an insA (lane 2), and A11r pattern with a delCAGT (lane 4). (C) Exon 9 patterns: affected father with a C>T (lane 1), propositus A28r with a C>T (lane 2), and unaffected mother (lane 3). Gastroenterology 1999 116, 1141-1148DOI: (10.1016/S0016-5085(99)70017-X) Copyright © 1999 American Gastroenterological Association Terms and Conditions

Fig. 3 Distribution of the 117 JAGGED1 mutations14-17 (including this study) in the 26 exons of the gene. ▩, Cases reported in the present study. The signal peptide is encoded by part of exon 1 and the DSL domain by part of exon 4, the 16 EGF-like repeats correspond to exons 5–21, the cysteine-rich region partially overlaps exons 22–24, and the transmembrane domain and the intracellular region are encoded by exon 26. Gastroenterology 1999 116, 1141-1148DOI: (10.1016/S0016-5085(99)70017-X) Copyright © 1999 American Gastroenterological Association Terms and Conditions