Gene: [20p122/JAG1] jagged 1; arteriohepatic dysplasia (Alagille-Watson syndrome; MIM:118450); cholestasis with peripheral pulmonary stenosis (MIM:118450); syndromatic hepatic ductular hypoplasia (MIM:118450); [JAGL1 AGS ]


COM

 The JAG1 was isolated by Oda-1997 as a human homolog of the rat Jagged gene encoding a potential ligand for Notch proteins (GEM:09q343/NOTCH1). Northern blot analysis of RNA from adult tissues indicated that JAG1 is widely expressed in many tissues. The most abundant expression was observed in ovary, prostate, pancreas, placenta, and heart."

GEN

 The gene length: 36 kb; exons: 26 (Oda-1997).

PAT

 Alagille-Watson syndrome is a complex malformation syndrome characterized by five major features:
[1] chronic cholestasis due to intrahepatic biliary hypoplasia;
[2] typical facial dismorphosis, such as prominent forehead, mild hypotelorism, antimongoloid slant of the palpebral-fissures, deep-set eyes, and small chin;
[3] peripheral or valvular pulmonary stenosis with or without other heart defects;
[4] vertebral arch defects like butterfly vertebrae and lack of increase in the interpedicular distance of the lumbar spine; and
[5] embryotoxon posterior. Abnormalities occurring less frequently are pre- and postnatal growth retardation, delay of puberty, renal glomerular involvement, mentel retardation, and high-pitched voice (Watson-1973; Alagille-1975, Alagille-1987; RFE:Grosse-1979)."

FOG

 The Alagille-Watson syndrome inheritance is autosomal dominant with reduced penetrance and variable expressivity (Mueller-1984; Shulman-1984; see also Alagille-1975; Henriksen-1977)."

MUT

 In families with Alagille syndrome Li-1997 and Oda-1997 found a coding mutations segregating with the disease phenotype."

REL

 GEM:14q32/JAG2.

REF

 HIS,PHE,FOG,PAT "Alagille D &: J Pediatr, 110, 195-200, 1987
HIS,PHE,FOG,PAT "Alagille D &: J Pediatr, 86, 63-71, 1975
MUT,CYG,ASS "Anad F &: J Med Genet, 27, N12, 729-737, 1990
LOC,CYG "Byrne JL &: Am J Med Genet, 24, 673-678, 1986
HIS,PHE,FOG,PAT "Grosse KP: Leber Magen Darm, 9, 247-252, 1979
HIS,PHE,FOG,PAT "Henriksen &: Acta Paediatr Scand, 66, 7-15, 1977
HIS,PHE,FOG,PAT "LaBrecque &: Hepatology, 2, 467-474, 1982a
HIS,PHE,FOG,PAT "LaBrecque, Mitros: Clin Res, 30, 285A, 1982b
LOC,LIN,PAT "Legius E &: Am J Med Genet, 35, 532-535, 1990
LOC,MUT "Li L &: Nature Genet, 16, N3, 243-251, 1997
HIS,PHE,FOG,PAT "Mueller RF: J Med Genet, 24, 621-626, 1987
HIS,PHE,FOG,PAT "Mueller RF &: Clin Genet, 25, 323-331, 1984
CLO,SEQ,LOC "Oda T &: Genomics, 43, 376-379, 1997a
MUT "Oda T &: Nature Genet, 16, 235-242, 1997b
LIN,MAF "Pollet N &: Genomics, 42, 489-498, 1997
HIS,PHE,FOG,PAT "Rosenfeld &: Am J Roentgenol, 135, 1217-1223, 1980
LOC,CYG "Schnittger S &: CCG, 51, (HGM10), 1074, 1989a
LOC,CYG "Schnittger S &: Hum Genet, 83, 239-244, 1989b
HIS,PHE,FOG,PAT "Shulman &: Am J Med Genet, 19, 325-332, 1984
HIS,PHE,FOG,PAT "Watson, Miller: Arch Dis Child, 48, 459-466, 1973
LIN,MUT,CYG,PAT "Zhang F &: J Pediatr, 116, 73-77, 1990
FUN "Zimrin AB &: JBC, 271, N51, 32499-32502, 1996

KEY

 devd, card, git, bone

CLA

 coding, basic

LOC

 20 p12.2

MIM

 MIM: 601920

SYN

 JAGL1 AGS