Castelli, Erick C;
de Almeida, Bibiana S;
Muniz, Yara CN;
Silva, Nayane SB;
Passos, Marilia RS;
Souza, Andreia S;
Page, Abigail E;
... Donadi, Eduardo A; + view all
(2021)
HLA-G genetic diversity and evolutive aspects in worldwide populations.
Scientific Reports
, 11
(1)
, Article 23070. 10.1038/s41598-021-02106-4.
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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.
| Type: | Article |
|---|---|
| Title: | HLA-G genetic diversity and evolutive aspects in worldwide populations |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1038/s41598-021-02106-4 |
| Publisher version: | https://doi.org/10.1038/s41598-021-02106-4 |
| Language: | English |
| Additional information: | © 2022 Springer Nature Limited. This article is licensed under a Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/). |
| Keywords: | Bioinformatics, Genotype, Haplotypes, Immunogenetics, Population genetics |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > UCL SLASH UCL > Provost and Vice Provost Offices > UCL SLASH > Faculty of S&HS UCL > Provost and Vice Provost Offices > UCL SLASH > Faculty of S&HS > Dept of Anthropology |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10159125 |
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