Recombinant structures expand and contract inter and intragenic diversification at the KIR locus

Chul Woo Pyo, Ruihan Wang, Quyen Vu, Nezih Cereb, Soo Young Yang, Fuh Mei Duh, Steven Wolinsky, Maureen P. Martin, Mary Carrington, Daniel E. Geraghty*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

54 Scopus citations


Background: The human KIR genes are arranged in at least six major gene-content haplotypes, all of which are combinations of four centromeric and two telomeric motifs. Several less frequent or minor haplotypes also exist, including insertions, deletions, and hybridization of KIR genes derived from the major haplotypes. These haplotype structures and their concomitant linkage disequilibrium among KIR genes suggest that more meaningful correlative data from studies of KIR genetics and complex disease may be achieved by measuring haplotypes of the KIR region in total.Results: Towards that end, we developed a KIR haplotyping method that reports unambiguous combinations of KIR gene-content haplotypes, including both phase and copy number for each KIR. A total of 37 different gene content haplotypes were detected from 4,512 individuals and new sequence data was derived from haplotypes where the detailed structure was not previously available.Conclusions: These new structures suggest a number of specific recombinant events during the course of KIR evolution, and add to an expanding diversity of potential new KIR haplotypes derived from gene duplication, deletion, and hybridization.

Original languageEnglish (US)
Article number89
JournalBMC Genomics
Issue number1
StatePublished - Feb 8 2013


  • Human
  • KIR
  • Natural killer cells
  • Recombinant structures

ASJC Scopus subject areas

  • Biotechnology
  • Genetics


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