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

التفاصيل البيبلوغرافية
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
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
الوصف
تدمد:16643224
72687991
DOI:10.3389/fimmu.2020.00440