Human Molecular Genetics, Vol 8, 2443-2449, Copyright © 1999 by Oxford University Press
KM Loomes, LA Underkoffler, J Morabito, S Gottlieb, DA Piccoli, NB Spinner, HS Baldwin and RJ Oakey
The establishment of the cardiovascular system represents an early,
critical event essential for normal embryonic development, and defects in
cardiovascular development are a frequent cause of both in utero and
neonatal demise. Congenital cardio-vascular malformations, the most
frequent birth defect, can occur as isolated events, but are frequently
presented clinically within the context of a constellation of defects that
involve multiple organs and that define a specific syndrome. In addition,
defects can be a primary effect of gene mutations or result from secondary
effects of altered cardiac physiology. Alagille syndrome (AGS) is an
autosomal dominant disorder characterized by developmental abnormalities of
the heart, liver, eye, skeleton and kidney. Congenital heart defects, the
majority of which affect the right-sided or pulmonary circulation,
contribute significantly to mortality in AGS patients. Recently, mutations
in Jagged1 ( JAG1 ), a conserved gene of the Notch intercellular signaling
pathway, have been found to cause AGS. In order to begin to delineate the
role of JAG1 in normal heart development we have studied the expression
pattern of JAG1 in both the murine and human embryonic heart and vascular
system. Here, we demonstrate that JAG1 is expressed in the developing heart
and multiple associated vascular structures in a pattern that correlates
with the congenital cardiovascular defects observed in AGS. These data are
consistent with an important role for JAG1 and Notch signaling in early
mammalian cardiac development.
ARTICLES
The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular disease in Alagille syndrome
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