title: Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region.
abstract: Orofacial clefting (OFC) is a common congenital malformation. Here we report the refinement of three translocation breakpoints of patients exhibiting OFC within the 6p24 region, and the isolation and characterisation of novel genes, one of which is directly disrupted by the translocation breakpoint of a patient. The gene has been characterized and orthologues identified in bovine, murine and pufferfish.
authors.affiliation: The Wellcome Trust Centre for Human Genetics, Oxford, UK. s.davies@ucl.ac.uk
authors.forename: S J
authors.initials: SJ
authors.lastname: Davies
authors.forename: C
authors.initials: C
authors.lastname: Wise
authors.forename: B
authors.initials: B
authors.lastname: Venkatesh
authors.forename: G
authors.initials: G
authors.lastname: Mirza
authors.forename: A
authors.initials: A
authors.lastname: Jefferson
authors.forename: E V
authors.initials: EV
authors.lastname: Volpi
authors.forename: J
authors.initials: J
authors.lastname: Ragoussis
mesh_terms: D000818:Animals; D002417:Cattle; D002874:Chromosome Mapping; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D003001:Cloning, Molecular; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000502:physiology; D015870:Gene Expression; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D021141:Nucleic Acid Amplification Techniques; D011506:Proteins / Q000235:genetics / Q000502:physiology; D012333:RNA, Messenger / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D023721:Tetraodontiformes; D050656:Transcription Factor AP-2; D014157:Transcription Factors / Q000502:physiology; D014178:Translocation, Genetic
chemical_list: D004268:DNA-Binding Proteins; C491851:OFCC1 protein, human; D011506:Proteins; D012333:RNA, Messenger; D050656:Transcription Factor AP-2; D014157:Transcription Factors