Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region.

Journal article

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: Davies, S; Wise, C; Venkatesh, B; Mirza, G; Jefferson, A

• Publication status: Published
• Journal: Cytogenetic and genome research
• Volume: 105
• Issue: 1
• Pages: 47-53
• Publication date: 2004-01-01
• DOI: 10.1159/000078008
• EISSN: 1424-859X
• ISSN: 1424-8581
• Language: English
• Keywords: RNA, Messenger; Craniofacial Abnormalities; DNA-Binding Proteins; Cleft Lip; Translocation, Genetic; Cleft Palate; Cattle; Transcription Factor AP-2; Reverse Transcriptase Polymerase Chain Reaction; Cloning, Molecular; Tetraodontiformes; In Situ Hybridization, Fluorescence; Proteins; Chromosome Mapping; Gene Expression; Nucleic Acid Amplification Techniques; Humans; Transcription Factors; Animals