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NOTCH, a new signaling pathway implicated in holoprosencephaly
Valérie Dupé1, Lucie Rochard, Sandra Mercier
1Institut de Génétique et Développement, CNRS UMR6061, Université de Rennes 1, IFR140 GFAS, Faculté de Médecine, Rennes, France.
Human Molecular Genetics
|January 4, 2011
Summary
Genetic defects in holoprosencephaly (HPE) are linked to the NOTCH pathway via DELTA Like 1 (DLL1). This study identifies DLL1 mutations in HPE patients, implicating it in forebrain development.
Area of Science:
- Developmental biology
- Human genetics
- Molecular signaling
Background:
- Holoprosencephaly (HPE) is a congenital forebrain malformation with complex genetic underpinnings.
- Known genetic factors in HPE primarily involve the sonic hedgehog signaling pathway.
Purpose of the Study:
- To identify novel genes involved in holoprosencephaly (HPE).
- To investigate the role of DELTA Like 1 (DLL1) in forebrain development and its potential link to HPE.
Main Methods:
- Array comparative genomic hybridization to identify deletions
- Gene expression analysis in chick embryos
- Pharmacological inhibition of signaling pathways
- Mutation analysis in HPE patients
Main Results:
- DELTA Like 1 (DLL1), a NOTCH ligand, was identified in 6qter deletions.
- DLL1 is co-expressed with Fgf8 in the developing chick forebrain.
- DLL1 was shown to interact with the FGF signaling pathway.
- A three-nucleotide deletion in DLL1 was found in HPE patients.
Conclusions:
- DELTA Like 1 (DLL1) is implicated in the early patterning of the forebrain.
- The NOTCH signaling pathway is newly identified as being involved in holoprosencephaly (HPE).
