title: Utilizing the chicken as an animal model for human craniofacial ciliopathies.
abstract: The chicken has been a particularly useful model for the study of craniofacial development and disease for over a century due to their relatively large size, accessibility, and amenability for classical bead implantation and transplant experiments. Several naturally occurring mutant lines with craniofacial anomalies also exist and have been heavily utilized by developmental biologist for several decades. Two of the most well known lines, talpid(2) (ta(2)) and talpid(3) (ta(3)), represent the first spontaneous mutants to have the causative genes identified. Despite having distinct genetic causes, both mutants have recently been identified as ciliopathic. Excitingly, both of these mutants have been classified as models for human craniofacial ciliopathies: Oral-facial-digital syndrome (ta(2)) and Joubert syndrome (ta(3)). Herein, we review and compare these two models of craniofacial disease and highlight what they have revealed about the molecular and cellular etiology of ciliopathies. Furthermore, we outline how applying classical avian experiments and new technological advances (transgenics and genome editing) with naturally occurring avian mutants can add a tremendous amount to what we currently know about craniofacial ciliopathies.
authors.affiliation: Division of Plastic Surgery, Department of Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Division of Developmental Biology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
authors.forename: Elizabeth N
authors.initials: EN
authors.lastname: Schock
authors.affiliation: Division of Plastic Surgery, Department of Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Division of Developmental Biology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
authors.forename: Ching-Fang
authors.initials: CF
authors.lastname: Chang
authors.affiliation: College of Agricultural and Environmental Sciences, Department of Animal Science, University of California Davis, Davis, CA 95616, USA.
authors.forename: Ingrid A
authors.initials: IA
authors.lastname: Youngworth
authors.affiliation: Division of Developmental Biology, The Roslin Institute and R(D)SVS, University of Edinburgh, Midlothian, UK.
authors.forename: Megan G
authors.initials: MG
authors.lastname: Davey
authors.affiliation: College of Agricultural and Environmental Sciences, Department of Animal Science, University of California Davis, Davis, CA 95616, USA.
authors.forename: Mary E
authors.initials: ME
authors.lastname: Delany
authors.affiliation: Division of Plastic Surgery, Department of Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Division of Developmental Biology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA. Electronic address: samantha.brugmann@cchmc.org.
authors.forename: Samantha A
authors.initials: SA
authors.lastname: Brugmann
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000378:metabolism; D000818:Animals; D030801:Animals, Genetically Modified; D018797:Cell Cycle Proteins / Q000235:genetics / Q000502:physiology; D002531:Cerebellum / Q000002:abnormalities / Q000378:metabolism; D002642:Chick Embryo; D002645:Chickens / Q000235:genetics*; D000072661:Ciliopathies / Q000196:embryology / Q000235:genetics* / Q000662:veterinary; D019465:Craniofacial Abnormalities / Q000196:embryology / Q000235:genetics* / Q000662:veterinary; D004195:Disease Models, Animal; D005124:Eye Abnormalities / Q000235:genetics / Q000378:metabolism; D005804:Genes, Lethal; D056726:Genetic Association Studies; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000235:genetics / Q000378:metabolism; D008445:Maxillofacial Development / Q000235:genetics*; D051379:Mice; D009154:Mutation; D009958:Orofaciodigital Syndromes / Q000196:embryology / Q000235:genetics; D017689:Polydactyly / Q000235:genetics / Q000662:veterinary; D011201:Poultry Diseases / Q000196:embryology / Q000235:genetics; D012160:Retina / Q000002:abnormalities / Q000378:metabolism
chemical_list: D018797:Cell Cycle Proteins
keywords: Chicken; Ciliopathies; Craniofacial; Joubert syndrome; Oral-facial-digital syndrome; Primary cilia; talpid(2); talpid(3)