A mutation in KIR3DS1 that results in truncation and lack of cell surface expression

Maureen P. Martin, Véronique Pascal, Meredith Yeager, John Phair, Gregory D. Kirk, Keith Hoots, Stephen J. O'Brien, Stephen K. Anderson, Mary Carrington

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


The KIR gene cluster exhibits a high degree of polymorphism in terms of gene content as well as allelic polymorphism, and data suggest that it is evolving rapidly. The KIR3DL1 locus is one of the most polymorphic loci within this cluster and is unique in that it encodes an activating receptor KIR3DS1, as well as multiple inhibitory KIR3DL1 allotypes. Because KIR3DS1 has been implicated in a number of diseases, we tested for the presence of KIR3DS1 variants that might affect its expression and activating capacity. Preliminary FACS analysis indicated that indeed some individuals with the KIR3DS1 allele showed no cell surface expression of the molecule. Sequencing analysis identified a variant with a complex deletion/substitution mutation in exon 4 (which encodes the D1 extracellular domain), resulting in a premature stop codon. We subsequently genotyped 3,960 unrelated individuals and determined the frequencies of this allele across geographically distinct world populations. The data indicate that the null KIR3DS1 allele is uncommon, arose on a single haplotype, and spread across geographically distinct populations.

Original languageEnglish (US)
Pages (from-to)823-829
Number of pages7
Issue number10
StatePublished - Oct 2007


  • Cell surface expression
  • Human Genome Diversity Panel (HGDP)
  • KIR expression
  • KIR gene polymorphism
  • KIR3DS/L1 locus
  • KIR3DS1
  • Truncation

ASJC Scopus subject areas

  • Immunology
  • Genetics


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