NOTCH, a new signaling pathway implicated in holoprosencephaly. - Archive ouverte HAL Access content directly
Journal Articles Human Molecular Genetics Year : 2011

NOTCH, a new signaling pathway implicated in holoprosencephaly.

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Abstract

Genetics of Holoprosencephaly (HPE), a congenital malformation of the developing human forebrain, is due to multiple genetic defects. Most genes that have been implicated in HPE belong to the sonic hedgehog signaling pathway. Here we describe a new candidate gene isolated from array comparative genomic hybridization redundant 6qter deletions, DELTA Like 1 (DLL1), which is a ligand of NOTCH. We show that DLL1 is co-expressed in the developing chick forebrain with Fgf8. By treating chick embryos with a pharmacological inhibitor, we demonstrate that DLL1 interacts with FGF signaling pathway. Moreover, a mutation analysis of DLL1 in HPE patients revealed a three-nucleotide deletion. These various findings implicate DLL1 in early patterning of the forebrain and identify NOTCH as a new signaling pathway involved in HPE.
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Dates and versions

inserm-00554387 , version 1 (03-01-2012)

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Valérie Dupé, Lucie Rochard, Sandra Mercier, Yann Le Pétillon, Isabelle Gicquel, et al.. NOTCH, a new signaling pathway implicated in holoprosencephaly.. Human Molecular Genetics, 2011, 20 (6), pp.1122-31. ⟨10.1093/hmg/ddq556⟩. ⟨inserm-00554387⟩
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