Abstract
Several homologs of the Drosophila Notch receptor and its ligands, Delta/Serrate, have been cloned in man. Three human disorders including a neoplasia (a T-cell acute lymphoblastic leukemia/lymphoma), a late onset neurological disease (CADASIL) and a developmental disorder (the Alagille syndrome) are associated with mutations in, respectively, the Notch1, Notch3 and Jagged1 genes, pointing out the broad spectrum of Notch activity in humans. We report herein on what has been learned on the role of these human Notch genes and the mechanisms leading from mutations in those genes to the observed phenotypes.
MeSH terms
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Alagille Syndrome / genetics*
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Calcium-Binding Proteins
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Cerebral Arterial Diseases / genetics*
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Drosophila Proteins
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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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Leukemia-Lymphoma, Adult T-Cell / genetics*
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Membrane Proteins / genetics
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Membrane Proteins / physiology*
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Proteins / genetics
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Proto-Oncogene Proteins / genetics
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Receptor, Notch1
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Receptor, Notch3
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Receptors, Cell Surface*
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Receptors, Notch
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Serrate-Jagged Proteins
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Signal Transduction
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Transcription Factors*
Substances
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Calcium-Binding Proteins
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Drosophila Proteins
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Intercellular Signaling Peptides and Proteins
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JAG1 protein, human
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Jagged-1 Protein
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Membrane Proteins
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NOTCH1 protein, human
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NOTCH3 protein, human
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Proteins
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Proto-Oncogene Proteins
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Receptor, Notch1
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Receptor, Notch3
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Receptors, Cell Surface
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Receptors, Notch
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Ser protein, Drosophila
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Serrate-Jagged Proteins
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Transcription Factors