New haplotype representations in the LRC_KIR region on chromosome 19q13.4

The KIR (Killer cell immunoglobulin-like receptor) gene cluster is a region of approximately 150 kb within the Leukocyte Receptor Complex (LRC) on human chromosome 19q13.4 (CM000681.2: 50900001-58617616). The KIR family is highly divergent, with multiple haplotypes differing in gene content, and with individual genes exhibiting allelic variation. Only a few KIR genes are conserved between humans and chimpanzees, the closest living relatives to humans. The GRCh38 assembly includes 35 representations for the LRC-KIR region as alternate loci scaffolds in addition to the chromosomal sequence (ALT_REF_LOCI in LRC-KIR region). David Roe and colleagues (personal communication) recently sequenced a diverse panel of KIR haplotypes with the goal to report novel structures and to demonstrate the ability to fully characterize KIR haplotypes, even across long repetitive sequences in diploid individuals.The sequences for these 15 haplotypes are derived from 8 individuals (one is homozygous for the haplotype). While all 15 haplotypes represent new allelic variations, 6 of the 15 haplotype structures exhibit novel numbers and types of KIR genes (rows highlighted black in Table 1).table, th, td { border: 1px solid black; border-collapse: collapse; } th, td { padding: 5px; } th { text-align: left; }    KIR_haplotype   GenBank_ID   RefSeq_ID cA01-tA01KV575246.1NW_016107300.1cA01-tA01KV575247.1NW_016107301.1cA01-tA01KV575248.1NW_0161...
Source: GenomeRef - Category: Genetics & Stem Cells Source Type: blogs