A novel splice variant of the cell adhesion molecule contactin 4 ( CNTN4) is mainly expressed in human brain

J Hum Genet. 2002;47(9):497-9. doi: 10.1007/s100380200073.

Abstract

Axon-associated cell adhesion molecules (AxCAMs) of the immunoglobulin superfamily play important roles in the formation, maintenance, and plasticity of functional neuronal networks. Contactin4 ( CNTN4, BIG-2) is a member of the TAG-1/F3 subgroup of AxCAMs. We have cloned a novel splice variant of CNTN4, and term it CNTN4A. The complete nucleotide sequence of CNTN4 is also obtained by combining the insert sequences of two clones, which were isolated when screening the human fetal brain cDNA library with CNTN4A as a probe. CNTN4A protein has an N-terminal cleavable signal peptide, two FNIII-like domains, and a glycosyl phosphatidylinositol-anchoring domain. According to the search of the human genome database, CNTN4 was mapped to 3p25-26, a region very close to the breakpoints of the 3p syndrome. Expression analysis of CNTN4A shows that CNTN4A is mainly expressed in brain.

MeSH terms

  • Alternative Splicing / genetics*
  • Blotting, Northern
  • Brain / metabolism*
  • Cell Adhesion Molecules, Neuronal / genetics*
  • Cell Adhesion Molecules, Neuronal / metabolism
  • Chromosomes, Human, Pair 3 / genetics
  • Cloning, Molecular
  • Contactins
  • DNA Primers / chemistry
  • Exons
  • Gene Expression / genetics
  • Humans
  • Immunoglobulins / genetics*
  • Introns
  • Phylogeny
  • Polymerase Chain Reaction
  • Tissue Distribution

Substances

  • CNTN4 protein, human
  • Cell Adhesion Molecules, Neuronal
  • Contactins
  • DNA Primers
  • Immunoglobulins