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

Cytogenet Genome Res. 2004;105(1):47-53. doi: 10.1159/000078008.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cattle
  • Chromosome Mapping
  • Cleft Lip / genetics*
  • Cleft Palate / genetics*
  • Cloning, Molecular
  • Craniofacial Abnormalities / genetics*
  • DNA-Binding Proteins / physiology
  • Gene Expression
  • Humans
  • In Situ Hybridization, Fluorescence
  • Nucleic Acid Amplification Techniques
  • Proteins / genetics
  • Proteins / physiology
  • RNA, Messenger / genetics
  • Reverse Transcriptase Polymerase Chain Reaction
  • Tetraodontiformes
  • Transcription Factor AP-2
  • Transcription Factors / physiology
  • Translocation, Genetic

Substances

  • DNA-Binding Proteins
  • OFCC1 protein, human
  • Proteins
  • RNA, Messenger
  • Transcription Factor AP-2
  • Transcription Factors

Associated data

  • OMIM/119530