Abstract
Notch proteins are a family of closely related transmembrane receptors proven to be instrumental in cell fate decisions. Recently, Notch ligands Delta and Jagged have been identified in Drosophila and rat, respectively. We have isolated the human homolog of the rat Jagged1 gene, JAG1, from a CpG island in a YAC clone covering the Alagille syndrome critical region at chromosome 20p12 (tel-SNAP-D20S186-cen). Alagille syndrome is an autosomal dominant disorder characterized by neonatal jaundice, paucity of intrahepatic bile ducts, and abnormalities of the heart, skeleton, and eyes. The human Jagged1 (JAG1), therefore, appears to be a strong candidate gene for this disease. Here we describe the identification, full-length cDNA cloning, expression patterns, and precise physical location of this gene within the Alagille syndrome critical region.
MeSH terms
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Alagille Syndrome / genetics*
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Amino Acid Sequence
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Animals
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Base Sequence
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Calcium-Binding Proteins
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Chromosome Fragility*
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Chromosomes, Artificial, Yeast
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Chromosomes, Human, Pair 20 / genetics*
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Cloning, Molecular*
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CpG Islands / genetics
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DNA, Complementary / analysis
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DNA, Complementary / chemistry
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DNA, Complementary / isolation & purification
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Drosophila Proteins
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Genes / genetics
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Genetic Markers / genetics
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Humans
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Intercellular Signaling Peptides and Proteins
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Jagged-1 Protein
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Membrane Proteins / genetics*
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Molecular Sequence Data
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Proteins / genetics*
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Rats
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Sequence Homology, Nucleic Acid
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Serrate-Jagged Proteins
Substances
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Calcium-Binding Proteins
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DNA, Complementary
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Drosophila Proteins
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Genetic Markers
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Intercellular Signaling Peptides and Proteins
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JAG1 protein, human
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Jag1 protein, rat
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Jagged-1 Protein
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Membrane Proteins
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Proteins
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Ser protein, Drosophila
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Serrate-Jagged Proteins