Human Molecular Genetics, Vol 7, 1363-1369, Copyright © 1998 by Oxford University Press
ZR Yuan, T Kohsaka, T Ikegaya, T Suzuki, S Okano, J Abe, N Kobayashi and M Yamada
Alagille syndrome (AGS) is an autosomal dominant disease characterized by
five major abnormalities in the liver, heart, face, vertebrae and eye. The
responsible gene has been recently identified as the human Jagged 1 (JAG1)
gene, which encodes a ligand for the Notch receptor. We analyzed the JAG1
gene in eight AGS families, including affected and unaffected individuals,
at the genomic DNA level, mainly by single- strand conformational
polymorphism (SSCP) and DNA sequencing analysis. Four categories of
mutations were identified: (i) four frameshift mutations in exons 9, 22, 24
and 26 were exhibited respectively in affected individuals of four AGS
families, which resulted in moving the translational frame of JAG1; (ii)
one nonsense mutation, a 1 bp substitution in exon 5 of the EGF-like repeat
domain, was detected in two unrelated AGS families, which altered codon 235
from arginine to stop; (iii) one acceptor splice site mutation of exon 5
was revealed in a sporadic patient; and (iv) a 1.3 Mb deletion, which
included the entire JAG1 gene, was found in another patient. Our results
further demonstrate that AGS is a dominant disease and suggest that the
JAG1 gene exerts a fundamental role in regulating genes involved in
development.
ARTICLES
Mutational analysis of the Jagged 1 gene in Alagille syndrome families
National Children's Medical Research Center, 3-35-31 Taishido, Setagaya- ku, Tokyo 154, Japan and National Children's Hospital, Tokyo, Japan.
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