The KIR cA01|tB01-del7 haplotype has alternate forms, with and without a KIR3DL2 partial gene deletion. (A) A cartoon depicting the cA01|tB01-del7 haplotype and, expanded beneath, the structure of a partial deletion of 3DL2 (from exon4 to exon9) found in a major subset of the cA01|tB01-del7 mutant haplotypes examined. Based on a sequence alignment of wild-type 3DL2 (green line) and mutant 3DL2*007 (red line with thinning indicating absent sequence), the deleted region spans ~14 kb from intron 3 to the 3’UTR flanked by repeat elements at both breakpoint sites. The 3DL2 and Fcar exon structures are indicated by blue and pink boxes, respectively. Pink shading overlays the region deleted. The lighter shading within the green bar at the scale indicates the extent of sequence divergence between the aligned sequences. (B) Three distinct derivative haplotypes were found in the populations studied. The number of chromosomes detected for each haplotype is indicated adjacent to the haplotype name and a cartoon depicting the structure. All samples were examined by long range PCR-sequencing with the deletion found only in individuals with the 3DL2*007-like allele (based on exons 1–3) and the –del7 structure.
Pyo et al. BMC Genomics 2013 14:89 doi:10.1186/1471-2164-14-89