دورية أكاديمية
Haplotype-Based Analysis of KIR-Gene Profiles in a South European Population—Distribution of Standard and Variant Haplotypes, and Identification of Novel Recombinant Structures
العنوان: | Haplotype-Based Analysis of KIR-Gene Profiles in a South European Population—Distribution of Standard and Variant Haplotypes, and Identification of Novel Recombinant Structures |
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المؤلفون: | Elisa Cisneros, Manuela Moraru, Natalia Gómez-Lozano, Aura Muntasell, Miguel López-Botet, Carlos Vilches |
المصدر: | Frontiers in Immunology, Vol 11 (2020) |
بيانات النشر: | Frontiers Media S.A., 2020. |
سنة النشر: | 2020 |
المجموعة: | LCC:Immunologic diseases. Allergy |
مصطلحات موضوعية: | copy-number variation, genes, haplotypes, KIR, NK cells, polymorphism, Immunologic diseases. Allergy, RC581-607 |
الوصف: | Inhibitory Killer-cell Immunoglobulin-like Receptors (KIR) specific for HLA class I molecules enable human natural killer cells to monitor altered antigen presentation in pathogen-infected and tumor cells. KIR genes display extensive copy-number variation and allelic polymorphism. They organize in a series of variable arrangements, designated KIR haplotypes, which derive from duplications of ancestral genes and sequence diversification through point mutation and unequal crossing-over events. Genomic studies have established the organization of multiple KIR haplotypes—many of them are fixed in most human populations, whereas variants of those have less certain distributions. Whilst KIR-gene diversity of many populations and ethnicities has been explored superficially (frequencies of individual genes and presence/absence profiles), less abundant are in-depth analyses of how such diversity emerges from KIR-haplotype structures. We characterize here the genetic diversity of KIR in a sample of 414 Spanish individuals. Using a parsimonious approach, we manage to explain all 38 observed KIR-gene profiles by homo- or heterozygous combinations of six fixed centromeric and telomeric motifs; of six variant gene arrangements characterized previously by us and others; and of two novel haplotypes never detected before in Caucasoids. Associated to the latter haplotypes, we also identified the novel transcribed KIR2DL5B*0020202 allele, and a chimeric KIR2DS2/KIR2DL3 gene (designated KIR2DL3*033) that challenges current criteria for classification and nomenclature of KIR genes and haplotypes. |
نوع الوثيقة: | article |
وصف الملف: | electronic resource |
اللغة: | English |
تدمد: | 1664-3224 72687991 |
Relation: | https://www.frontiersin.org/article/10.3389/fimmu.2020.00440/full; https://doaj.org/toc/1664-3224 |
DOI: | 10.3389/fimmu.2020.00440 |
URL الوصول: | https://doaj.org/article/e06a7268799144a7917e31e06f5d233c |
رقم الأكسشن: | edsdoj.06a7268799144a7917e31e06f5d233c |
قاعدة البيانات: | Directory of Open Access Journals |
تدمد: | 16643224 72687991 |
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DOI: | 10.3389/fimmu.2020.00440 |