PUBLICATION

Regulation of facial morphogenesis by endothelin signaling: Insights from mice and fish

Authors
Clouthier, D.E., Garcia, E., and Schilling, T.F.
ID
ZDB-PUB-100806-21
Date
2010
Source
American journal of medical genetics   152A(12): 2962-2973 (Review)
Registered Authors
Schilling, Tom
Keywords
endothelin, craniofacial development, neural crest cell, endothelin antagonist, zebrafish, morpholino, knockout mice, transgenic mice, Dlx
MeSH Terms
  • Animals
  • Body Patterning/genetics
  • Branchial Region/metabolism
  • Endothelin-1/genetics
  • Endothelin-1/metabolism
  • Endothelins/genetics
  • Endothelins/metabolism*
  • Face/embryology*
  • Fishes/genetics*
  • Fishes/metabolism
  • Gene Expression Regulation, Developmental
  • Genes, Homeobox/genetics
  • Jaw/metabolism
  • Mandible/metabolism
  • Mice
  • Mice, Knockout
  • Mice, Mutant Strains
  • Models, Biological
  • Morphogenesis/genetics
  • Neural Crest/metabolism
  • Receptor, Endothelin A/genetics
  • Receptor, Endothelin A/metabolism
  • Signal Transduction/genetics
  • Signal Transduction/physiology*
  • Zebrafish/genetics
  • Zebrafish/metabolism
PubMed
20684004 Full text @ Am. J. Med. Genet.
Abstract
Craniofacial morphogenesis is accomplished through a complex set of developmental events, most of which are initiated in neural crest cells within the pharyngeal arches. Local patterning cues from the surrounding environment induce gene expression within neural crest cells, leading to formation of a diverse set of skeletal elements. Endothelin-1 (Edn1) is one of the primary signals that establishes the identity of neural crest cells within the mandibular portion of the first pharyngeal arch. Signaling through its cognate receptor, the endothelin-A receptor, is critical for patterning the ventral/distal portion of the arch (lower jaw) and also participates with Hox genes in patterning more posterior arches. Edn1/Ednra signaling is highly conserved between mouse and zebrafish, and genetic analyses in these two species have provided complementary insights into the patterning cues responsible for establishing the craniofacial complex as well as the genetic basis of facial birth defect syndromes.
Genes / Markers
Figures
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping