title: Upper beak truncation in chicken embryos with the cleft primary palate mutation is due to an epithelial defect in the frontonasal mass.
abstract: In this study, we used the chicken mutant strain known as cleft primary palate (cpp) to study the mechanisms of beak outgrowth. cpp mutants have complete truncation of the upper beak with normal development of the lower beak. Based on structural analysis and grafts of facial prominences, we localized the defect to the frontonasal mass and its derivatives. Several explanations that would account for the outgrowth defect were investigated, including abnormal expression of genes in the frontonasal epithelium, intrinsic defects in epithelium and/or mesenchyme defects in epithelial-mesenchymal signalling, a localized decrease in cell proliferation or a localized increase in programmed cell death. One of the genes expressed in the frontonasal epithelial growth zone, Fgf8, failed to down-regulate and was maintained for at least 48 hr beyond the time when down-regulation normally occurs. Recombination experiments further illustrated that the frontonasal mass epithelium was abnormal in the cpp mutants, whereas mutant mesenchyme was capable of normal outgrowth when combined with wild-type epithelium. Cell proliferation was not decreased in mutant embryos nor was cell death initially increased. Later, at stages 31-32, when the prenasal cartilage begins directed outgrowth, there was an increase in cell death within the mutant upper but not lower beak cartilage. The cpp beak truncation, therefore, is due to an epithelial defect in the frontonasal mass that is coincident with a failure to down-regulate expression of Fgf8.
authors.affiliation: Dalhousie University Medical School, Halifax, Nova Scotia, Canada.
authors.forename: Mary E
authors.initials: ME
authors.lastname: MacDonald
authors.forename: Ursula K
authors.initials: UK
authors.lastname: Abbott
authors.forename: Joy M
authors.initials: JM
authors.lastname: Richman
mesh_terms: D000818:Animals; D017209:Apoptosis; D030161:Avian Proteins / Q000235:genetics*; D001502:Beak / Q000002:abnormalities* / Q000196:embryology*; D049109:Cell Proliferation; D002642:Chick Embryo; D002645:Chickens / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics; D015536:Down-Regulation; D004848:Epithelium / Q000002:abnormalities* / Q000378:metabolism; D051524:Fibroblast Growth Factor 8; D005346:Fibroblast Growth Factors / Q000235:genetics; D018507:Gene Expression Regulation, Developmental; D008648:Mesoderm / Q000378:metabolism; D009154:Mutation / Q000235:genetics*; D009666:Nose / Q000002:abnormalities* / Q000196:embryology; D010641:Phenotype; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D019737:Transplants
chemical_list: D030161:Avian Proteins; D012333:RNA, Messenger; D051524:Fibroblast Growth Factor 8; D005346:Fibroblast Growth Factors