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Immunogenetics

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https://www.readbyqxmd.com/read/28220184/cxcl12a-cxcr4b-acts-to-retain-neutrophils-in-caudal-hematopoietic-tissue-and-to-antagonize-recruitment-to-an-injury-site-in-the-zebrafish-larva
#1
Susana Paredes-Zúñiga, Rodrigo A Morales, Salomé Muñoz-Sánchez, Carlos Muñoz-Montecinos, Margarita Parada, Karina Tapia, Carlos Rubilar, Miguel L Allende, Oscar A Peña
Neutrophils are a major component of the innate immune response and the most abundant circulating cell type in humans and zebrafish. The CXCL12/CXCR4 ligand receptor pair plays a key role in neutrophil homeostasis, controlling definitive hematopoiesis and neutrophil release into circulation. Neutrophils overexpressing CXCR4 respond by migrating towards sources of CXCL12, which is abundant in hematopoietic tissues. However, the physiological role of CXCL12/CXCR4 signaling during inflammatory responses remains unknown...
February 20, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28180967/the-evolution-of-the-natural-killer-complex-a-comparison-between-mammals-using-new-high-quality-genome-assemblies-and-targeted-annotation
#2
John C Schwartz, Mark S Gibson, Dorothea Heimeier, Sergey Koren, Adam M Phillippy, Derek M Bickhart, Timothy P L Smith, Juan F Medrano, John A Hammond
Natural killer (NK) cells are a diverse population of lymphocytes with a range of biological roles including essential immune functions. NK cell diversity is in part created by the differential expression of cell surface receptors which modulate activation and function, including multiple subfamilies of C-type lectin receptors encoded within the NK complex (NKC). Little is known about the gene content of the NKC beyond rodent and primate lineages, other than it appears to be extremely variable between mammalian groups...
February 9, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28154890/single-nucleotide-polymorphisms-in-the-fc%C3%AE-r3a-and-tap1-genes-impact-adcc-in-cynomolgus-monkey-pbmcs
#3
Jonathan C Sanford, Hong Wu, Yasmina Abdiche, Julie A Harney, Javier Chaparro-Riggers, Karissa Adkins
Phenotypic variability is often observed in cynomolgus monkeys on preclinical studies and may, in part, be driven by genetic variability. However, the role of monkey genetic variation remains largely unexplored in the context of drug response. This study evaluated genetic variation in cynomolgus monkey FcγR3A and TAP1 genes and the potential impact of identified polymorphisms on antibody-dependent cell-mediated cytotoxicity (ADCC) in vitro. Studies in humans have demonstrated that a single nucleotide polymorphism (SNP), F158V, in FcγR3A can influence response to rituximab through altered ADCC and that SNPs in TAP1/2 decrease natural killer (NK) cell activity against major histocompatibility complex (MHC) class I deficient cells, potentially through altered ADCC...
February 3, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28124082/novel-compound-heterozygous-mutations-in-zap70-in-a-chinese-patient-with-leaky-severe-combined-immunodeficiency-disorder
#4
Qing Liu, Yan-Ping Wang, Qiao Liu, Qin Zhao, Xue-Mei Chen, Xiu-Hong Xue, Li-Na Zhou, Yuan Ding, Xue-Mei Tang, Xiao-Dong Zhao, Zhi-Yong Zhang
In humans, the complete lack of tyrosine kinase ZAP70 function results in combined immunodeficiency (CID), with abnormal thymic development and defective T cell receptor (TCR) signaling of peripheral T cells, characterized by the selective absence of CD8(+) T cells. So far, 15 unique ZAP70 mutations have been identified in approximately 20 patients with CID, with variable clinical presentations. Herein, we report the first case from China of novel compound heterozygous mutations in ZAP70 (c.598-599delCT, p...
January 26, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28084496/a-quick-and-robust-mhc-typing-method-for-free-ranging-and-captive-primate-species
#5
N de Groot, K Stanbury, A J M de Vos-Rouweler, N G de Groot, N Poirier, G Blancho, C de Luna, G G M Doxiadis, R E Bontrop
Gene products of the major histocompatibility complex (MHC) of human and non-human primates play a crucial role in adaptive immunity, and most of the relevant genes not only show a high degree of variability (polymorphism) but also copy number variation (CNV) is observed. Due to this diversity, MHC proteins influence the capability of individuals to cope with various pathogens. MHC and/or MHC-linked gene products such as odorant receptor genes are thought to influence mate choice and reproductive success. Therefore, MHC typing of wild and captive primate populations is considered to be useful in conservation biology, which is, however, often hampered by the need of invasive and time-consuming methods...
January 13, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28078358/major-histocompatibility-complex-haplotyping-and-long-amplicon-allele-discovery-in-cynomolgus-macaques-from-chinese-breeding-facilities
#6
Julie A Karl, Michael E Graham, Roger W Wiseman, Katelyn E Heimbruch, Samantha M Gieger, Gaby G M Doxiadis, Ronald E Bontrop, David H O'Connor
Very little is currently known about the major histocompatibility complex (MHC) region of cynomolgus macaques (Macaca fascicularis; Mafa) from Chinese breeding centers. We performed comprehensive MHC class I haplotype analysis of 100 cynomolgus macaques from two different centers, with animals from different reported original geographic origins (Vietnamese, Cambodian, and Cambodian/Indonesian mixed-origin). Many of the samples were of known relation to each other (sire, dam, and progeny sets), making it possible to characterize lineage-level haplotypes in these animals...
January 11, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28070614/outgroup-alignment-and-modelling-improvements-indicate-that-two-tnfsf13-like-genes-existed-in-the-vertebrate-ancestor
#7
Anthony K Redmond, Rita Pettinello, Helen Dooley
The molecular machinery required for lymphocyte development and differentiation appears to have emerged concomitantly with distinct B- and T-like lymphocyte subsets in the ancestor of all vertebrates. The TNFSF superfamily (TNFSF) members BAFF (TNFSF13/Blys) and APRIL (TNFSF13) are key regulators of B cell development survival, and activation in mammals, but the temporal emergence of these molecules, and their precise relationship to the newly identified TNFSF gene BALM (BAFF and APRIL-like molecule), have not yet been elucidated...
January 9, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28028562/characterization-of-mhc-class-ia-in-the-endangered-southern-corroboree-frog
#8
Tiffany A Kosch, John A Eimes, Chelsea Didinger, Laura A Brannelly, Bruce Waldman, Lee Berger, Lee F Skerratt
Southern corroboree frogs (Pseudophryne corroboree) have declined to near extinction in the wild after the emergence of the amphibian chytrid fungus Batrachochytrium dendrobatidis in southeastern Australia in the 1980s. A major captive breeding and reintroduction program is underway to preserve this iconic species, but improving resistance to B. dendrobatidis would help the wild population to be self-sustaining. Using 3' and 5' rapid amplification of complementary DNA ends (RACE), we characterized the major histocompatibility complex (MHC) class IA locus in this species...
December 27, 2016: Immunogenetics
https://www.readbyqxmd.com/read/28013457/selective-evolution-of-toll-like-receptors-3-7-8-and-9-in-bats
#9
Haiying Jiang, Juan Li, Linmiao Li, Xiujuan Zhang, Lihong Yuan, Jinping Chen
Previous studies have shown that bats are reservoirs of a large number of viruses, many of which cause illness and mortality in humans and other animals. However, these bat-associated pathogens cause little, if any, clinicopathology in bats. This long-term adaptation should be reflected somewhat in the immune system. Toll-like receptors (TLRs) are the first line of immune defense against pathogens in vertebrates. Therefore, this study focuses on the selection of TLRs involved in virus recognition. The coding sequences of TLR3, TLR7, TLR8, and TLR9 were sequenced in ten bats...
December 24, 2016: Immunogenetics
https://www.readbyqxmd.com/read/27921144/the-genetic-architecture-of-the-mhc-class-ii-region-in-british-texel-sheep
#10
Alsagher O A Ali, Abigail Stear, Karen Fairlie-Clarke, Gholamreza Nikbakht Brujeni, N Mahiza Md Isa, M Shahrom Bin Salisi, Katarzyna Donskow-Łysoniewska, David Groth, Johannes Buitkamp, Michael J Stear
Understanding the structure of the major histocompatibility complex, especially the number and frequency of alleles, loci and haplotypes, is crucial for efficient investigation of the way in which the MHC influences susceptibility to disease. Nematode infection is one of the most important diseases suffered by sheep, and the class II region has been repeatedly associated with differences in susceptibility and resistance to infection. Texel sheep are widely used in many different countries and are relatively resistant to infection...
December 5, 2016: Immunogenetics
https://www.readbyqxmd.com/read/27921143/erratum-to-pig-lacks-functional-nlrc4-and-naip-genes
#11
Chisato Sakuma, Daisuke Toki, Hiroki Shinkai, Takato Takenouchi, Mitsuru Sato, Hiroshi Kitani, Hirohide Uenishi
No abstract text is available yet for this article.
December 5, 2016: Immunogenetics
https://www.readbyqxmd.com/read/27933432/lupus-pathobiology-based-on-genomics
#12
REVIEW
Mohammad Saeed
Systemic lupus erythematosus (SLE) is an autoimmune disorder with complex genetic underpinnings. This review attempts to assemble the myriad of genomic findings to build a clearer picture of the pathobiology of SLE to serve as a guide for therapeutics. Over 100 genes are now known for SLE, and several more penetrant ones have led to the emergence of more defined lupus phenotypes. Also discussed here are the targeted therapies that have come up on the horizon and the specific biologic mechanisms of more traditional therapies which have only recently been explored...
January 2017: Immunogenetics
https://www.readbyqxmd.com/read/27695917/elucidating-the-origin-of-hla-b-73-allelic-lineage-did-modern-humans-benefit-by-archaic-introgression
#13
Yoshiki Yasukochi, Jun Ohashi
A previous study reported that some of the human leukocyte antigen (HLA) alleles and haplotypes in present-day humans were acquired by admixture with archaic humans; specifically, an exceptionally diverged HLA-B*73 allele was proposed to be transmitted from Denisovans, although the DNA sequence of HLA-B*73 has not been detected in the Denisovan genome. Here, we argue against the hypothesis that HLA-B*73 introgressed from Denisovans into early modern humans. A phylogenetic analysis revealed that HLA-B*73:01 formed a monophyletic group with a chimpanzee MHC-B allele, strongly suggesting that the HLA-B*73 allelic lineage has been maintained in humans as well as in chimpanzees since the divergence of humans and chimpanzees...
January 2017: Immunogenetics
https://www.readbyqxmd.com/read/27566612/a-novel-deletion-mutation-in-il2rg-gene-results-in-x-linked-severe-combined-immunodeficiency-with-an-atypical-phenotype
#14
Wenjun Mou, Jianxin He, Xi Chen, Hui Zhang, Xiaoya Ren, Xunyao Wu, Xin Ni, Baoping Xu, Jingang Gui
Severe combined immunodeficiency (SCID) is the most serious disorder among primary immunodeficiency diseases threatening children's life. Atypical SCID variant, presenting with mild reduced T cells subsets, is often associated with infection susceptibility but poor clinical diagnosis. The atypical X-SCID patient in the present study showed a mild clinical presentation with a T(low)NK(+)B(+) immunophenotype. The patient has reduced T- cell subpopulations with a subdued thymic output measured by sjTRECs. Further analysis showed that T cells maintained a normal proliferation and a broad Vβ repertoire...
January 2017: Immunogenetics
https://www.readbyqxmd.com/read/27541597/transcriptional-regulation-of-the-il-7r%C3%AE-gene-by-dexamethasone-and-il-7-in-primary-human-cd8-t-cells
#15
Juzer A Kakal, Feras M Ghazawi, Elliott M Faller, Scott M Sugden, Parmvir Parmar, Paul A MacPherson
Interleukin-7 is essential for the development and maintenance of T cells, and the expression of the IL-7 receptor is tightly regulated at every stage of the T cell's lifespan. In mature CD8 T cells, IL-7 plays important roles in cell survival, peripheral homeostasis, and cytolytic function. The IL-7 receptor alpha-chain (CD127) is expressed at high levels on naïve and memory cells, but it is rapidly downregulated upon IL-7 stimulation. In this study, we illustrate the dynamicity of the CD127 promoter and show that it possesses positive as well as negative regulatory sites involved in upregulating and downregulating CD127 expression, respectively...
January 2017: Immunogenetics
https://www.readbyqxmd.com/read/27517292/egernia-stokesii-gidgee-skink-mhc-i-positively-selected-sites-lack-concordance-with-hla-peptide-binding-regions
#16
Sarah K Pearson, C Michael Bull, Michael G Gardner
Genes of the major histocompatibility complex (MHC) play an important role in vertebrate disease resistance, kin recognition and mate choice. Mammalian MHC is the most widely characterised of all vertebrates, and attention is often given to the peptide binding regions of the MHC because they are presumed to be under stronger selection than non-peptide binding regions. For vertebrates where the MHC is less well understood, researchers commonly use the amino acid positions of the peptide binding regions of the human leukocyte antigen (HLA) to infer the peptide binding regions within the MHC sequences of their taxon of interest...
January 2017: Immunogenetics
https://www.readbyqxmd.com/read/27484460/preferred-sla-class-i-class-ii-haplotype-combinations-in-german-landrace-pigs
#17
Ulrike Gimsa, Chak-Sum Ho, Sabine E Hammer
Major histocompatibility complex (MHC) molecules are responsible for the antigen presentation to T lymphocytes. High recombination rates in the MHC genes, as observed in humans, are believed to serve the evolutionary goal to achieve a high genetic diversity, allowing for a broad and efficient immune response. In a cohort of 155 pedigreed German Landrace pigs (65 founders and 90 piglets), we found that MHC genes occur in particular class I and class II haplotype combinations. This phenomenon has not been described before, probably because most of the earlier MHC studies in pigs were not pedigree-based...
January 2017: Immunogenetics
https://www.readbyqxmd.com/read/27889800/polymorphism-at-expressed-dq-and-dr-loci-in-five-common-equine-mhc-haplotypes
#18
Donald Miller, Rebecca L Tallmadge, Matthew Binns, Baoli Zhu, Yasmin Ali Mohamoud, Ayeda Ahmed, Samantha A Brooks, Douglas F Antczak
The polymorphism of major histocompatibility complex (MHC) class II DQ and DR genes in five common equine leukocyte antigen (ELA) haplotypes was determined through sequencing of mRNA transcripts isolated from lymphocytes of eight ELA homozygous horses. Ten expressed MHC class II genes were detected in horses of the ELA-A3 haplotype carried by the donor horses of the equine bacterial artificial chromosome (BAC) library and the reference genome sequence: four DR genes and six DQ genes. The other four ELA haplotypes contained at least eight expressed polymorphic MHC class II loci...
November 26, 2016: Immunogenetics
https://www.readbyqxmd.com/read/27888301/the-genome-sequence-and-insights-into-the-immunogenetics-of-the-bananaquit-passeriformes-coereba-flaveola
#19
Jennifer Antonides, Robert Ricklefs, J Andrew DeWoody
Avian genomics, especially of non-model species, is in its infancy relative to mammalian genomics. Here, we describe the sequencing, assembly, and annotation of a new avian genome, that of the bananaquit Coereba flaveola (Passeriformes: Thraupidae). We produced ∼30-fold coverage of the genome with an assembly size of ca. 1.2 Gb, including approximately 16,500 annotated genes. Passerine birds, such as the bananaquit, are commonly infected by avian malarial parasites (Haemosporida), which presumably drive adaptive evolution of immunogenetic loci within the host genome...
November 25, 2016: Immunogenetics
https://www.readbyqxmd.com/read/27838759/characterization-of-the-antimicrobial-peptide-family-defensins-in-the-tasmanian-devil-sarcophilus-harrisii-koala-phascolarctos-cinereus-and-tammar-wallaby-macropus-eugenii
#20
Elizabeth A Jones, Yuanyuan Cheng, Denis O'Meally, Katherine Belov
Defensins comprise a family of cysteine-rich antimicrobial peptides with important roles in innate and adaptive immune defense in vertebrates. We characterized alpha and beta defensin genes in three Australian marsupials: the Tasmanian devil (Sarcophilus harrisii), koala (Phascolarctos cinereus), and tammar wallaby (Macropus eugenii) and identified 48, 34, and 39 defensins, respectively. One hundred and twelve have the classical antimicrobial peptides characteristics required for pathogen membrane targeting, including cationic charge (between 1+ and 15+) and a high proportion of hydrophobic residues (>30%)...
November 12, 2016: Immunogenetics
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