title: Recombinant structures expand and contract inter and intragenic diversification at the KIR locus.
abstract: 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.
authors: Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
authors: Chul-Woo
authors: CW
authors: Pyo
authors: Ruihan
authors: R
authors: Wang
authors: Quyen
authors: Q
authors: Vu
authors: Nezih
authors: N
authors: Cereb
authors: Soo Young
authors: SY
authors: Yang
authors: Fuh-Mei
authors: FM
authors: Duh
authors: Steven
authors: S
authors: Wolinsky
authors: Maureen P
authors: MP
authors: Martin
authors: Mary
authors: M
authors: Carrington
authors: Daniel E
authors: DE
authors: Geraghty
mesh_terms: D000483:Alleles; D002503:Centromere / Q000235:genetics; D020440:Gene Duplication; D005787:Gene Frequency; D006680:HLA Antigens / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D007694:Killer Cells, Natural / Q000166:cytology / Q000378:metabolism*; D015810:Linkage Disequilibrium; D020641:Polymorphism, Single Nucleotide; D054340:Receptors, KIR / Q000737:chemistry / Q000235:genetics*; D016615:Telomere / Q000235:genetics
chemical_list: D006680:HLA Antigens; D054340:Receptors, KIR
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