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JAGGED1 expression in human embryos: correlation with the Alagille syndrome phenotype

Lookup NU author(s): Dr Elizabeth Jones, Dr David Wilson


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Alagille syndrome (AGS, MIM 118450) is an autosomal dominant disorder with a variable phenotype characterised by hepatic, eye, cardiac, and skeletal malformations and a characteristic facial appearance. Mutations within the gene JAGGED1 (JAG1), which encodes a ligand for NOTCH receptor(s), has been shown to cause Alagille syndrome. Interactions of NOTCH receptors and their ligands influence cell fate decisions in several developmental pathways. We report the tissue expression of JAG1 in human embryos. We have performed tissue in situ hybridisation on human embryos aged 32-52 days using S-35 labelled riboprobes for JAG1.JAG1 is expressed in the distal cardiac outflow tract and pulmonary artery, major arteries, portal vein, optic vesicle, otocyst, branchial arches, metanephros, pancreas, mesocardium, around the major bronchial branches, and in the neural tube. We conclude that JAG1 is expressed in the structures affected in Alagille syndrome, such as the pulmonary artery, anterior chamber of the eye, and face.

Publication metadata

Author(s): Jones EA; Wilson DI; Clement-Jones M

Publication type: Article

Publication status: Published

Journal: Journal of Medical Genetics

Year: 2000

Volume: 37

Issue: 9

Pages: 658-662

ISSN (print): 0022-2593

ISSN (electronic): 1468-6244

Publisher: BMJ Publishing Group Ltd


DOI: 10.1136/jmg.37.9.658


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Funder referenceFunder name
G9826762Medical Research Council