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G V González-Enríquez, B M Torres-Mendoza, J Márquez-Pedroza, M A Macías-Islas, G G Ortiz, J A Cruz-Ramos
The HLA-DRB1*15:01 allele has a demonstrated risk for the development of multiple sclerosis (MS) in most populations around the world. The single nucleotide polymorphism (SNP) rs3129934 is found in linkage disequilibrium with the risk haplotype formed by the HLA-DRB1*15:01 and HLA-DQB1*06:02 alleles, and it is considered a reliable marker of the presence of this haplotype. Native Americans have a null or low prevalence of MS. In this study, we sought to identify the frequency of rs3129934 in the Wixáreca ethnic group as well as in Mestizo (mixed race) patients with MS and in controls from western Mexico...
February 3, 2018: Immunogenetics
M Cortázar-Chinarro, Y Meyer-Lucht, A Laurila, J Höglund
MHC genes are key components in disease resistance and an excellent system for studying selection acting on genetic variation in natural populations. Current patterns of variation in MHC genes are likely to be influenced by past and ongoing selection as well as demographic fluctuations in population size such as those imposed by post-glacial recolonization processes. Here, we investigated signatures of historical selection and demography on an MHC class II gene in 12 moor frog populations along a 1700-km latitudinal gradient...
February 1, 2018: Immunogenetics
Johannes M Dijkstra, Takuya Yamaguchi, Unni Grimholt
Humans have a number of nonclassical major histocompatibility complex (MHC) class I molecules that are quite divergent from the classical ones, and that may have separated from the classical lineage in pre-mammalian times. To estimate when in evolution the respective nonclassical lineages separated from the classical lineage, we first identified "phylogenetic marker motifs" within the evolution of classical MHC class I; the selected motifs are rather specific for and rather stably inherited within clades of species...
December 21, 2017: Immunogenetics
Andrew M Collins, Katherine J L Jackson
The immune systems of all mammals include populations of B cells producing antibodies with incredibly diverse specificities. Repertoire diversity has been described as the "miracle of immunology," and it was long thought to be the result of essentially stochastic processes. Recently, however, analysis of high throughput gene sequencing data has shown that hard-wired biases in these processes result in antibody repertoires that are broadly predictable. The repertoires of mice and humans are both predictable, but they are strikingly different...
December 19, 2017: Immunogenetics
Carol Lee, Marco Moroldo, Alvaro Perdomo-Sabogal, Núria Mach, Sylvain Marthey, Jérôme Lecardonnel, Per Wahlberg, Amanda Y Chong, Jordi Estellé, Simon Y W Ho, Claire Rogel-Gaillard, Jaime Gongora
The major histocompatibility complex (MHC) is a key genomic model region for understanding the evolution of gene families and the co-evolution between host and pathogen. To date, MHC studies have mostly focused on species from major vertebrate lineages. The evolution of MHC classical (Ia) and non-classical (Ib) genes in pigs has attracted interest because of their antigen presentation roles as part of the adaptive immune system. The pig family Suidae comprises over 18 extant species (mostly wild), but only the domestic pig has been extensively sequenced and annotated...
December 18, 2017: Immunogenetics
Maryam Alinejad Dizaj, Esmaeil Mortaz, Seyed Alireza Mahdaviani, Davood Mansouri, Payam Mehrian, Els M Verhard, Mohammad Varahram, Delara Babaie, Ian M Adcock, Johan Garssen, Esther van de Vosse, Aliakbar Velayati
In the last decade, autosomal recessive interleukin-12 receptor β1 (IL-12Rβ1) deficiency, the most common cause of Mendelian susceptibility to mycobacterial disease (MSMD), has been diagnosed in a few children and adults with severe tuberculosis in Iran. Here, we report three cases referred to the Immunology, Asthma and Allergy ward at the National Research Institute of Tuberculosis and Lung Diseases (NRITLD) at Masih Daneshvari Hospital from 2012 to 2017 with Mycobacterium tuberculosis and non-tuberculous mycobacteria infections due to defects in IL-12Rβ1 but with different clinical manifestations...
December 18, 2017: Immunogenetics
Pieter Meysman, Nicolas De Neuter, Esther Bartholomeus, George Elias, Johan Van den Bergh, Marie-Paule Emonds, Geert W Haasnoot, Steven Heynderickx, Johan Wens, Nele R Michels, Julien Lambert, Eva Lion, Frans H J Claas, Herman Goossens, Evelien Smits, Pierre Van Damme, Viggo Van Tendeloo, Philippe Beutels, Arvid Suls, Geert Mortier, Kris Laukens, Benson Ogunjimi
Around 30% of individuals will develop herpes zoster (HZ), caused by the varicella zoster virus (VZV), during their life. While several risk factors for HZ, such as immunosuppressive therapy, are well known, the genetic and molecular components that determine the risk of otherwise healthy individuals to develop HZ are still poorly understood. We created a computational model for the Human Leukocyte Antigen (HLA-A, -B, and -C) presentation capacity of peptides derived from the VZV Immediate Early 62 (IE62) protein...
December 1, 2017: Immunogenetics
Susana David, Pedro Aguiar, Liliana Antunes, Alexandra Dias, Anabela Morais, Anavaj Sakuntabhai, João Lavinha
Sickle cell anemia (SCA) is characterized by chronic hemolysis, severe vasoocclusive crises (VOCs), and recurrent often severe infections. A cohort of 95 SCA pediatric patients was the background for genotype-to-phenotype association of the patient's infectious disease phenotype and three non-coding polymorphic regions of the TLR2 gene, the -196 to -174 indel, SNP rs4696480, and a (GT)n short tandem repeat. The infectious subphenotypes included (A) recurrent respiratory infections and (B) severe bacterial infection at least once during the patient's follow-up...
January 2018: Immunogenetics
R Sadeghi, Mohammad Moradi-Shahrbabak, S R Miraei Ashtiani, D C Miller, Douglas F Antczak
Previous research on the equine major histocompatibility complex (MHC) demonstrated strong correlations between haplotypes defined by polymorphic intra-MHC microsatellites and haplotypes defined using classical serology. Here, we estimated MHC diversity in a sample of 124 Arabian horses from an endangered strain native to Iran (Persian Asil Arabians), using a validated 10-marker microsatellite panel. In a group of 66 horses related as parent-offspring pairs or half-sibling groups, we defined 51 MHC haplotypes, 49 of which were new...
November 23, 2017: Immunogenetics
Anna Carolina Toledo da Cunha Pereira, Tatiane Ribeiro de Siqueira, Andressa Anunciação de Oliveira Prado, Camila Almeida Veiga da Silva, Thaís de Fátima Silva Moraes, Alan Alex Aleixo, José Carlos de Magalhaes, Gabriel Augusto Pires de Souza, Betânia Paiva Drumond, Gustavo Portela Ferreira, Breno de Mello Silva, Cintia Lopes de Brito Magalhães, Luciana Lara Santos, Jaqueline Maria Siqueira Ferreira, Luiz Cosme Cotta Malaquias, Luiz Felipe Leomil Coelho
Dengue is the most prevalent arthropod-borne viral illness in humans worldwide. Single-nucleotide polymorphisms (SNPs) in genes involved in the immune response, such as dendritic cell-specific intercellular adhesion molecule-3-grabbing non-integrin (DC-SIGN), IgG Fc receptor II-A (FcγRIIa), vitamin D receptor (VDR), and tumor necrosis factor alpha (TNF-α), were previously reported to be associated with susceptibility to dengue disease in different human populations. Therefore, due to the relevant association of host immune and genetic status with disease susceptibility/severity of dengue, this work aims to verify the frequency of anti-dengue virus antibodies and some dengue-associated risk SNPs in a population in Minas Gerais State, Southeast Brazil...
November 21, 2017: Immunogenetics
Katrina M Morris, Haylee J Weaver, Denis O'Meally, Marion Desclozeaux, Amber Gillett, Adam Polkinghorne
Bandicoots are omnivorous marsupials of the order Peramelemorphia. Conservation concerns and their unique biological characteristics suggest peramelomorphs are worthy research subjects, but knowledge of their genetics and immunology has lagged behind that of other high-profile marsupials. Here, we characterise the transcriptome of the long-nose bandicoot (Perameles nasuta), the first high-throughput data set from any peramelomorph. We investigate the immune gene repertoire of the bandicoot, with a focus on key immune gene families, and compare to previously characterised marsupial and mammalian species...
November 20, 2017: Immunogenetics
Mohammad Saeed
Objective Assimilation of SNPs Interacting in Synchrony (OASIS) is a locus-based clustering algorithm recently described that can potentially address false positives and negatives in genome-wide association studies (GWAS) of complex disorders. Diabetic nephropathy (DN) is incompletely understood due to a paucity of genes identified despite several GWAS. OASIS was applied to three DN dbGAP GWAS datasets (4725 subjects; 1.06 million SNPs). OASIS identified 19 DN genes which were verified using single variant replication in a standard association study and gene-based analysis using GATES...
November 16, 2017: Immunogenetics
Stéphane Buhler, José Manuel Nunes, Alicia Sanchez-Mazas
The above article originally published with an incomplete bibliographic information for Bitarello et al. (2016) and presented correctly in this article.
November 15, 2017: Immunogenetics
Matthew R Semler, Roger W Wiseman, Julie A Karl, Michael E Graham, Samantha M Gieger, David H O'Connor
Pig-tailed macaques (Macaca nemestrina, Mane) are important models for human immunodeficiency virus (HIV) studies. Their infectability with minimally modified HIV makes them a uniquely valuable animal model to mimic human infection with HIV and progression to acquired immunodeficiency syndrome (AIDS). However, variation in the pig-tailed macaque major histocompatibility complex (MHC) and the impact of individual transcripts on the pathogenesis of HIV and other infectious diseases is understudied compared to that of rhesus and cynomolgus macaques...
November 13, 2017: Immunogenetics
Yoram Louzoun, Idan Alter, Loren Gragert, Mark Albrecht, Martin Maiers
Regardless of sampling depth, accurate genotype imputation is limited in regions of high polymorphism which often have a heavy-tailed haplotype frequency distribution. Many rare haplotypes are thus unobserved. Statistical methods to improve imputation by extending reference haplotype distributions using linkage disequilibrium patterns that relate allele and haplotype frequencies have not yet been explored. In the field of unrelated stem cell transplantation, imputation of highly polymorphic human leukocyte antigen (HLA) genes has an important application in identifying the best-matched stem cell donor when searching large registries totaling over 28,000,000 donors worldwide...
November 9, 2017: Immunogenetics
Jörg B Hans, Linda Vigilant
In comparison to humans and chimpanzees, gorillas show low diversity at MHC class I genes (Gogo), as reflected by an overall reduced level of allelic variation as well as the absence of a functionally important sequence motif that interacts with killer cell immunoglobulin-like receptors (KIR). Here, we use recently generated large-scale genomic sequence data for a reassessment of allelic diversity at Gogo-C, the gorilla orthologue of HLA-C. Through the combination of long-range amplifications and long-read sequencing technology, we obtained, among the 35 gorillas reanalyzed, three novel full-length genomic sequences including a coding region sequence that has not been previously described...
November 3, 2017: Immunogenetics
Yinan Wang, Shixiong Cheng, Yaqing Chang, Kaiquan Li, Yang Chen, Yi Wang
In this study, a homolog of the TLR11 family gene from the sea urchin Strongylocentrotus intermedius (denoted as SiTLR11) was cloned and characterized. The full-length cDNA of SiTLR11 was 2096-bp long, which included 43 bp of 5' untranslated region (UTR), 238 bp of 3' UTR, and a putative open reading frame of 1815 bp encoding a polypeptide of 604 amino acid residues. Representative domains such as leucine-rich repeat (LRR) (residues 108-249) and a cytoplasmic Toll-interleukin-1 receptor (TIR) (residues 429-571) domains were detected in the predicted amino acid sequence of SiTLR11...
October 26, 2017: Immunogenetics
John C Schwartz, Rebecca L Philp, Derek M Bickhart, Timothy P L Smith, John A Hammond
The domestic goat (Capra hircus) is an important ruminant species both as a source of antibody-based reagents for research and biomedical applications and as an economically important animal for agriculture, particularly for developing nations that maintain most of the global goat population. Characterization of the loci encoding the goat immune repertoire would be highly beneficial for both vaccine and immune reagent development. However, in goat and other species whose reference genomes were generated using short-read sequencing technologies, the immune loci are poorly assembled as a result of their repetitive nature...
October 23, 2017: Immunogenetics
Fany Blanc, Françoise Créchet, Nicolas Bruneau, Guillaume Piton, Jean-Jacques Leplat, Fabrice Andréoletti, Giorgia Egidy, Silvia Vincent-Naulleau, Emmanuelle Bourneuf
The cluster of differentiation 4 (CD4) molecule functions as a co-receptor for MHC class II binding to TCR in T helper cells. A CD4 epitope deficiency was identified in the swine MeLiM (melanoblastoma-bearing Libechov minipig) strain, a model for spontaneous cutaneous melanoma development and regression. Extensive sequencing revealed a high genetic variability of CD4 and the existence of several haplotypes segregating in MeLiM. Forty polymorphisms were identified in the coding sequence, out of which 20 correspond to non-synonymous variants and 10 are located in the 3'UTR of CD4 transcripts...
October 20, 2017: Immunogenetics
Xiao-Dong Lian, Xi-He Zhang, Zheng-Xi Dai, Yong-Tang Zheng
The northern pig-tailed macaque (Macaca leonina) has been considered as an independent species from the pig-tailed macaque group. We have previously reported that this species macaque has the potential to be a useful animal model in HIV/AIDS pathogenesis and vaccine studies due to its susceptibility to HIV-1. To develop this animal into a potential HIV/AIDS model, we have studied the classical MHC genes of this animal. In this study, the non-classical MHC genes Malo-DM and Malo-DO alleles were first characterized by sequencing and cloning in 12 unrelated northern pig-tailed macaques...
October 13, 2017: Immunogenetics
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