NOTCH, a new signaling pathway implicated in holoprosencephaly
| Autor: | Valérie Dupé, Véronique David, Isabelle Gicquel, Christèle Dubourg, Yann Le Pétillon, Claude Bendavid, Timothy P. Bohan, Sandra Mercier, Usha Kini, Georges Bourrouillou, Sylvie Odent, Christel Thauvin-Robinet, Lucie Rochard |
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| Přispěvatelé: | Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Génétique Moléculaire, Hôpital Pontchaillou, Service de génétique médicale, CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Department of Clinical Genetics [Churchill Hospital], Churchill Hospital Oxford Centre for Haematology, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Baylor University-Baylor University, Service de génétique clinique, hôpital Sud, Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de génétique moléculaire et génomique médicale [CHU Rennes], CHU Pontchaillou [Rennes], Service Génétique Médicale [CHU Toulouse], Institut Fédératif de Biologie (IFB), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle Biologie [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de génétique clinique [Rennes], Université de Rennes (UR)-CHU Pontchaillou [Rennes]-hôpital Sud, De Villemeur, Hervé |
| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
Male
MESH: Signal Transduction Candidate gene [SDV.GEN] Life Sciences [q-bio]/Genetics Chick Embryo MESH: Amino Acid Sequence MESH: Base Sequence Holoprosencephaly MESH: Animals [SDV.BDD]Life Sciences [q-bio]/Development Biology Genetics (clinical) Sequence Deletion Genetics 0303 health sciences Receptors Notch MESH: Androstenediols 030305 genetics & heredity MESH: Infant Newborn Intracellular Signaling Peptides and Proteins General Medicine MESH: Sequence Deletion MESH: Chick Embryo Cell biology embryonic structures Female [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] MESH: Membrane Proteins Signal transduction MESH: Holoprosencephaly Signal Transduction Adult musculoskeletal diseases Cell signaling congenital hereditary and neonatal diseases and abnormalities animal structures Molecular Sequence Data Notch signaling pathway MESH: Sequence Alignment Biology Article 03 medical and health sciences FGF8 [SDV.BDD] Life Sciences [q-bio]/Development Biology Androstenediols medicine Animals Humans [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] Amino Acid Sequence Molecular Biology 030304 developmental biology [SDV.GEN]Life Sciences [q-bio]/Genetics MESH: Molecular Sequence Data MESH: Humans Base Sequence Infant Newborn Membrane Proteins MESH: Adult medicine.disease MESH: Male Forebrain Mutation testing MESH: Receptors Notch Sequence Alignment MESH: Female |
| Zdroj: | Human Molecular Genetics Human Molecular Genetics, Oxford University Press (OUP), 2011, 20 (6), pp.1122-31. ⟨10.1093/hmg/ddq556⟩ Human Molecular Genetics, 2011, 20 (6), pp.1122-31. ⟨10.1093/hmg/ddq556⟩ |
| ISSN: | 0964-6906 1460-2083 |
| DOI: | 10.1093/hmg/ddq556⟩ |
| Popis: | International audience; 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. |
| Databáze: | OpenAIRE |
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