Genes encoding human killer-cell Ig-like receptors with D1 and D2 extracellular domains all contain untranslated pseudoexons encoding a third Ig-like domain

Immunogenetics. 2000 Jul;51(8-9):639-46. doi: 10.1007/s002510000184.

Abstract

Human killer-cell immunoglobulin-like receptors (KIR) show three types of organization of their extracellular domains: D0-D1-D2 in KIR3D, D1-D2 in the majority of KIR2D, and D0-D2 in KIR2DL4 and the novel KIR2DL5. The gene for a KIR2DL3 variant, which has a D1-D2 structure, has been shown previously to have a nonexpressed region (pseudoexon 3) that is paralogous to the exon encoding the D0 domain of other KIR. This pseudoexon is not expressed because it is skipped during splicing of pre-mRNA. In this study, we demonstrate that all eight genes encoding human KIR with D1-D2 configuration (KIR2DL1-KIR2DL3, KIR2DS1-KIR2DS5) have similarly untranslated pseudoexons. Whereas the pseudoexons of four of these KIR genes bear nonsense mutations and/or altered splicing sites, the pseudoexons in the other four KIR genes have no major structural abnormalities, indicating that other mechanisms are responsible for inactivation of their exons 3. A comparison of the sequences on pseudoexons 3 with the paralogous expressed exons suggests that an exonic splicing enhancer may be necessary for the expression of exon 3 in KIR genes.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Base Sequence
  • DNA, Complementary
  • Exons*
  • Humans
  • Killer Cells, Natural / metabolism*
  • Molecular Sequence Data
  • Protein Biosynthesis
  • Protein Structure, Tertiary
  • Pseudogenes
  • Receptors, Immunologic / chemistry
  • Receptors, Immunologic / classification
  • Receptors, Immunologic / genetics*
  • Receptors, KIR
  • Receptors, KIR2DL1
  • Receptors, KIR2DL3
  • Receptors, KIR2DL4
  • Sequence Homology, Nucleic Acid
  • Tumor Cells, Cultured

Substances

  • DNA, Complementary
  • KIR2DL3 protein, human
  • KIR2DL4 protein, human
  • Receptors, Immunologic
  • Receptors, KIR
  • Receptors, KIR2DL1
  • Receptors, KIR2DL3
  • Receptors, KIR2DL4

Associated data

  • GENBANK/AF215825
  • GENBANK/AF215826
  • GENBANK/AF215827
  • GENBANK/AF215828
  • GENBANK/AF215829
  • GENBANK/AF215830
  • GENBANK/AF215831
  • GENBANK/AF215832
  • GENBANK/AF215833
  • GENBANK/AF215834
  • GENBANK/AF215835