HLA-G genetic diversity and evolutive aspects in worldwide populations

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• dc.contributor.author Castelli, Erick C.
• dc.contributor.author Aguileta, Gabriela
• dc.contributor.author Bertranpetit, Jaume, 1952-
• dc.contributor.author Donadi, Eduardo A.
• dc.date.accessioned 2022-01-31T07:39:39Z
• dc.date.available 2022-01-31T07:39:39Z
• dc.date.issued 2021
• dc.description.abstract HLA-G is a promiscuous immune checkpoint molecule. The HLA-G gene presents substantial nucleotide variability in its regulatory regions. However, it encodes a limited number of proteins compared to classical HLA class I genes. We characterized the HLA-G genetic variability in 4640 individuals from 88 different population samples across the globe by using a state-of-the-art method to characterize polymorphisms and haplotypes from high-coverage next-generation sequencing data. We also provide insights regarding the HLA-G genetic diversity and a resource for future studies evaluating HLA-G polymorphisms in different populations and association studies. Despite the great haplotype variability, we demonstrated that: (1) most of the HLA-G polymorphisms are in introns and regulatory sequences, and these are the sites with evidence of balancing selection, (2) linkage disequilibrium is high throughout the gene, extending up to HLA-A, (3) there are few proteins frequently observed in worldwide populations, with lack of variation in residues associated with major HLA-G biological properties (dimer formation, interaction with leukocyte receptors). These observations corroborate the role of HLA-G as an immune checkpoint molecule rather than as an antigen-presenting molecule. Understanding HLA-G variability across populations is relevant for disease association and functional studies.
• dc.format.mimetype application/pdf
• dc.identifier.citation Castelli EC, de Almeida BS, Muniz YCN, Silva NSB, Passos MRS, Souza AS et al. HLA-G genetic diversity and evolutive aspects in worldwide populations. Sci Rep. 2021;11(1):23070. DOI: 10.1038/s41598-021-02106-4
• dc.identifier.doi http://dx.doi.org/10.1038/s41598-021-02106-4
• dc.identifier.issn 2045-2322
• dc.identifier.uri http://hdl.handle.net/10230/52368
• dc.language.iso eng
• dc.publisher Nature Research
• dc.relation.ispartof Sci Rep. 2021;11(1):23070
• dc.rights © The Author(s) 2021. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by/4.0/
• dc.subject.keyword Bioinformatics
• dc.subject.keyword Genotype
• dc.subject.keyword Haplotypes
• dc.subject.keyword Immunogenetics
• dc.subject.keyword Population genetics
• dc.title HLA-G genetic diversity and evolutive aspects in worldwide populations
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion