title: YPEL1 overexpression in early avian craniofacial mesenchyme causes mandibular dysmorphogenesis by up-regulating apoptosis.
abstract: BACKGROUND
  The YPEL (Yippee-like) gene family comprises five highly conserved members (YPEL1-5), but their biological function remains largely unknown. Early studies of YPEL1 function suggested that it plays a role in the development of structures derived from the pharyngeal arches. Human YPEL1 localises to distal chromosome 22q11.2 and copy number changes at this locus lead to diverse phenotypes that include facial dysmorphism, facial asymmetry, and palatal anomalies comprising the distal 22q11.2 deletion/duplication syndromes (OMIM 611867). We therefore investigated the role of chick YPEL1 in craniofacial development using ex vivo and in vivo approaches in the avian model.
  
  
  RESULTS
  We found that retroviral-mediated in vivo overexpression of YPEL1 causes abnormal mandibular morphogenesis associated with increased apoptosis and involvement of the BMP/MSX pathway.
  
  
  CONCLUSIONS
  Our results suggest that YPEL1 expression is regulated by bone morphogenetic protein signaling and suggest a role for YPEL1 in the pathogenesis of the craniofacial abnormalities observed in humans with distal chromosome 22q11.2 deletions or duplications.
authors.affiliation: Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Australia.|Murdoch Children's Research Institute, Melbourne, Australia.|Department of Paediatrics, University of Melbourne, Melbourne, Australia.
authors.forename: Tiong Yang
authors.initials: TY
authors.lastname: Tan
authors.affiliation: Murdoch Children's Research Institute, Melbourne, Australia.
authors.forename: Christopher T
authors.initials: CT
authors.lastname: Gordon
authors.affiliation: Murdoch Children's Research Institute, Melbourne, Australia.
authors.forename: Kerry A
authors.initials: KA
authors.lastname: Miller
authors.affiliation: Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Australia.|Murdoch Children's Research Institute, Melbourne, Australia.|Department of Paediatrics, University of Melbourne, Melbourne, Australia.
authors.forename: David J
authors.initials: DJ
authors.lastname: Amor
authors.affiliation: Murdoch Children's Research Institute, Melbourne, Australia.|Department of Paediatrics, University of Melbourne, Melbourne, Australia.
authors.forename: Peter G
authors.initials: PG
authors.lastname: Farlie
mesh_terms: D000818:Animals; D030161:Avian Proteins / Q000235:genetics / Q000378:metabolism*; D002645:Chickens; D005147:Facial Bones / Q000196:embryology* / Q000378:metabolism*; D009024:Morphogenesis / Q000235:genetics / Q000502:physiology; D015533:Transcriptional Activation
chemical_list: D030161:Avian Proteins
keywords: YPEL1; chick; craniofacial; distal chromosome 22q11; overexpression