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Immunogenetics

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https://www.readbyqxmd.com/read/28642997/pd-1-and-cancer-molecular-mechanisms-and-polymorphisms
#1
REVIEW
Arash Salmaninejad, Vahid Khoramshahi, Alireza Azani, Ehsan Soltaninejad, Saeed Aslani, Mohammad Reza Zamani, Masoud Zal, Abolfazl Nesaei, Sayed Mostafa Hosseini
The programmed cell death protein 1 (PD-1) is expressed by activated T cells that act as an immunoregulatory molecule, and are responsible for the negative regulation of T cell activation and peripheral tolerance. The PD-1 gene also encodes an inhibitory cell surface receptor involved in the regulation of T cell functions during immune responses/tolerance. Beyond potent inhibitory effects on T cells, PD-1 also has a role in regulating B cell and monocyte responses. An overexpression of PD-1 has been reported to contribute to immune system avoidance in different cancers...
June 22, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28623393/limited-mhc-class-i-intron-2-repertoire-variation-in-bonobos
#2
Natasja G de Groot, Corrine M C Heijmans, Philippe Helsen, Nel Otting, Zjef Pereboom, Jeroen M G Stevens, Ronald E Bontrop
Common chimpanzees (Pan troglodytes) experienced a selective sweep, probably caused by a SIV-like virus, which targeted their MHC class I repertoire. Based on MHC class I intron 2 data analyses, this selective sweep took place about 2-3 million years ago. As a consequence, common chimpanzees have a skewed MHC class I repertoire that is enriched for allotypes that are able to recognise conserved regions of the SIV proteome. The bonobo (Pan paniscus) shared an ancestor with common chimpanzees approximately 1...
June 16, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28623392/mhc-class-i-diversity-in-chimpanzees-and-bonobos
#3
Vincent Maibach, Jörg B Hans, Christina Hvilsom, Tomas Marques-Bonet, Linda Vigilant
Major histocompatibility complex (MHC) class I genes are critically involved in the defense against intracellular pathogens. MHC diversity comparisons among samples of closely related taxa may reveal traces of past or ongoing selective processes. The bonobo and chimpanzee are the closest living evolutionary relatives of humans and last shared a common ancestor some 1 mya. However, little is known concerning MHC class I diversity in bonobos or in central chimpanzees, the most numerous and genetically diverse chimpanzee subspecies...
June 16, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28597365/a-novel-pathogenic-frameshift-variant-of-cd3e-gene-in-two-t-b-nk-scid-patients-from-turkey
#4
Sinem Firtina, Yuk Yin Ng, Ozden Hatirnaz Ng, Serdar Nepesov, Osman Yesilbas, Meltem Kilercik, Nihan Burtecene, Suzan Cinar, Yildiz Camcioglu, Ugur Ozbek, Muge Sayitoglu
Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiency, which is characterized by the dysfunction and/or absence of T lymphocytes. Early diagnosis of SCID is crucial for overall survival, and if it remains untreated, SCID is often fatal. Next-generation sequencing (NGS) has become a rapid, high-throughput technology, and has already been proven to be beneficial in medical diagnostics. In this study, a targeted NGS panel was developed to identify the genetic variations of SCID by using SmartChip-TE technology, and a novel pathogenic frameshift variant was found in the CD3E gene...
June 9, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28589207/prediction-and-in-vitro-verification-of-potential-ctl-epitopes-conserved-among-prrsv-2-strains
#5
Simon Welner, Morten Nielsen, Michael Rasmussen, Søren Buus, Gregers Jungersen, Lars Erik Larsen
Porcine Reproductive and Respiratory Syndrome Virus (PRRSV) is the causative agent of one of the most important porcine diseases with a high impact on animal health, welfare, and production economy. PRRSV exhibits a multitude of immunoevasive strategies that, in combination with a very high mutation rate, has hampered the development of safe and broadly protective vaccines. Aiming at a vaccine inducing an effective cytotoxic T cell response, a bioinformatics approach was taken to identify conserved PRRSV-derived peptides predicted to react broadly with common swine leukocyte antigen (SLA) class I alleles...
June 7, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28547520/small-scale-intraspecific-patterns-of-adaptive-immunogenetic-polymorphisms-and-neutral-variation-in-lake-superior-lake-trout
#6
Shauna M Baillie, Riley R Hemstock, Andrew M Muir, Charles C Krueger, Paul Bentzen
Many fishes express high levels of intraspecific variability, often linked to resource partitioning. Several studies show that a species' evolutionary trajectory of adaptive divergence can undergo reversals caused by changes in its environment. Such a reversal in neutral genetic and morphological variation among lake trout Salvelinus namaycush ecomorphs appears to be underway in Lake Superior. However, a water depth gradient in neutral genetic divergence was found to be associated with intraspecific diversity in the lake...
May 25, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28540407/a-new-mutation-site-in-the-aire-gene-causes-autoimmune-polyendocrine-syndrome-type-1
#7
Wufei Zhu, Zhen Hu, Xiangyu Liao, Xing Chen, Wenrong Huang, Yu Zhong, Zhaoyang Zeng
Autoimmune polyendocrine syndrome type 1 (APS-1, OMIM 2403000) is a rare autosomal recessive disease that is caused by autoimmune regulator (AIRE). The main symptoms of APS-1 are chronic mucocutaneous candidiasis, autoimmune adrenocortical insufficiency (Addison's disease) and hypoparathyroidism. We collected APS-1 cases and analysed them. The AIRE genes of the patient and his family members were sequenced to identify whether the APS-1 patient had an AIRE mutation. We discovered a mutation site (c.206A>C) that had never before been reported in the AIRE gene located in exon 2 of the AIRE gene...
May 24, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28534223/immunoglobulin-m-gene-association-with-autoantibody-reactivity-and-type-1-diabetes
#8
Inês Rolim, Nádia Duarte, Gabriela Barata, João Costa, Luís Gardete-Correia, José Boavida, Rui Duarte, João Raposo, Zulmira Peerally, Manuela Catarino, Carlos Penha-Gonçalves
Several lines of evidence show that autoimmune responses evolving in type 1 diabetes (T1D) patients include the generation of multi-reactive autoantibody (AutoAb) repertoires, but their role in T1D pathogenesis remains elusive. We tested the hypothesis that variants at the immunoglobulin heavy chain (IGH) locus are genetic determinants of AutoAbs against pancreatic antigens and contribute to T1D susceptibility. With this aim, two independent study designs were used: a case-control study and a family-based cohort comprising a total of 240 T1D patients, 172 first-degree relatives (mother and/or father), and 130 unrelated healthy controls living in Portugal...
May 22, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28534222/identification-of-innate-lymphoid-cells-in-single-cell-rna-seq-data
#9
Madeleine Suffiotti, Santiago J Carmona, Camilla Jandus, David Gfeller
Innate lymphoid cells (ILCs) consist of natural killer (NK) cells and non-cytotoxic ILCs that are broadly classified into ILC1, ILC2, and ILC3 subtypes. These cells recently emerged as important early effectors of innate immunity for their roles in tissue homeostasis and inflammation. Over the last few years, ILCs have been extensively studied in mouse and human at the functional and molecular level, including gene expression profiling. However, sorting ILCs with flow cytometry for gene expression analysis is a delicate and time-consuming process...
May 22, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28526947/association-of-ulcerative-colitis-with-transcobalamin-ii-gene-polymorphisms-and-serum-homocysteine-vitamin-b12-and-folate-levels-in-chinese-patients
#10
Shuzi Zheng, Wei Yang, Chaoqun Wu, Liang Sun, Daopo Lin, Xiuqing Lin, Lijia Jiang, Ran Ding, Yi Jiang
It has been reported that abnormal elevation of homocysteine is quite prevalent in ulcerative colitis (UC) patients. We attempted to explore the relationship of UC with transcobalamin II (TCN2) gene polymorphisms and serum homocysteine, vitamin B12, and folate levels in Chinese patients. TCN2 (rs1801198, rs9606756) genotypes were detected by the improved multiple ligase detection reaction (iMLDR) technique in 527 UC patients and 574 controls. Moreover, 128 UC patients and 138 controls were randomly selected for the measurement of homocysteine, vitamin B12, and folate levels by enzymatic cycling assay or chemiluminescence immunoassay...
May 19, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28501972/genetic-variation-of-major-histocompatibility-complex-genes-in-the-endangered-red-crowned-crane
#11
Takuya Akiyama, Tetsuo I Kohyama, Chizuko Nishida, Manabu Onuma, Kunikazu Momose, Ryuichi Masuda
Populations that have drastically decreased in the past often have low genetic variation, which may increase the risk of extinction. The genes of major histocompatibility complex (MHC) play an important role in the adaptive immune response of jawed vertebrates. Maintenance of adaptive genetic diversity such as that of MHC genes is important for wildlife conservation. Here, we determined genotypes of exon 3 of MHC class IA genes (MHCIA) and exon 2 of MHC class IIB genes (MHCIIB) to evaluate genetic variation of the endangered red-crowned crane population on Hokkaido Island, Japan, which experienced severe population decline in the past...
May 14, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28488180/a-new-ataxia-telangiectasia-mutation-in-an-11-year-old-female
#12
Esmaeil Mortaz, Sayed Mehran Marashian, Hosseinali Ghaffaripour, Mohammad Varahram, Payam Mehrian, Atosa Dorudinia, Johan Garssen, Ian M Adcock, Malcolm Taylor, Seyed Alireza Mahdaviani
Ataxia-telangiectasia (A-T), a rare inherited disorder, usually affects the nervous and immune systems, and occasionally other organs. A-T is associated mainly with mutations in the ataxia telangiectasia mutated (ATM) gene, which encodes a protein kinase that has a major role in the cellular response to DNA damage. We report here a novel ATM mutation (c.3244_3245insG; p.His1082fs) in an 11-year old female. This subject presented with typical features, with the addition of chest manifestations including mediastinal lymphadenopathy and diffuse bilateral micronodular infiltration of the lungs, along with a high EBV titer...
May 9, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28478481/the-synergistic-effects-of-%C3%AF-3-fatty-acids-and-nano-curcumin-supplementation-on-tumor-necrosis-factor-tnf-%C3%AE-gene-expression-and-serum-level-in-migraine-patients
#13
Mina Abdolahi, Abbas Tafakhori, Mansoureh Togha, Ali Asghar Okhovat, Feridoun Siassi, Mohammad Reza Eshraghian, Mohsen Sedighiyan, Mona Djalali, Niyaz Mohammadzadeh Honarvar, Mahmoud Djalali
Migraine is a destabilizing neuroinflammatory disorder characterized by recurrent headache attacks. Evidences show tumor necrosis factor (TNF)-α play a role in neuroimmunity pathogenesis of migraine. TNF-α increase prostanoid production, hyperexcitability of neurons, and nociceptor activation resulted in neuroinflammation and neurogenic pain. ω-3 fatty acids and curcumin exert neuroprotective and anti-inflammatory effects via several mechanisms including suppression of TNF-α gene expression and its serum levels...
May 6, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28451741/the-rag-transposon-is-active-through-the-deuterostome-evolution-and-domesticated-in-jawed-vertebrates
#14
Jose Ricardo Morales Poole, Sheng Feng Huang, Anlong Xu, Justine Bayet, Pierre Pontarotti
RAG1 and RAG2 are essential subunits of the V(D)J recombinase required for the generation of the variability of antibodies and T cell receptors in jawed vertebrates. It was demonstrated that the amphioxus homologue of RAG1-RAG2 is encoded in an active transposon, belonging to the transposase DDE superfamily. The data provided support the possibility that the RAG transposon has been active through the deuterostome evolution and is still active in several lineages. The RAG transposon corresponds to several families present in deuterostomes...
April 28, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28391359/the-prevalence-of-the-variants-of-the-l-ficolin-gene-fcn2-in-the-arctic-populations-of-east-siberia
#15
Marina V Smolnikova, Maxim B Freidin, Sergey Yu Tereshchenko
L-ficolin encoded by FCN2 gene is a crucial factor of defence against infection in humans. We studied the prevalence of the two common variants (rs17549193 and rs7851696) in aboriginal and alien populations of the Taymyr-Dolgan-Nenets region of Krasnoyarskiy Kray, East Siberia, Russia (Nenets, Dolgans, Nganasans, Russians). We found a decreased prevalence of the rs17549193*T allele in all aboriginal populations as compared to Russians. Also, its frequency was the lowest in the Nenets among the studied populations, while frequency of the rs7851696*T allele was increased in this population...
April 8, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28382515/evolutionary-and-polymorphism-analyses-reveal-the-central-role-of-btn3a2-in-the-concerted-evolution-of-the-btn3-gene-family
#16
Hassnae Afrache, Pierre Pontarotti, Laurent Abi-Rached, Daniel Olive
The butyrophilin 3 (BTN3) receptors are implicated in the T lymphocytes regulation and present a wide plasticity in mammals. In order to understand how these genes have been diversified, we studied their evolution and show that the three human BTN3 are the result of two successive duplications in Primates and that the three genes are present in Hominoids and the Old World Monkey groups. A thorough phylogenetic analysis reveals a concerted evolution of BTN3 characterized by a strong and recurrent homogenization of the region encoding the signal peptide and the immunoglobulin variable (IgV) domain in Hominoids, where the sequences of BTN3A1 or BTN3A3 are replaced by BTN3A2 sequence...
April 5, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28534224/characterization-of-mhc-class-i-in-a-long-distance-migratory-wader-the-icelandic-black-tailed-godwit
#17
Sara Pardal, Anna Drews, José A Alves, Jaime A Ramos, Helena Westerdahl
The major histocompatibility complex (MHC) encodes proteins that are central for antigen presentation and pathogen elimination. MHC class I (MHC-I) genes have attracted a great deal of interest among researchers in ecology and evolution and have been partly characterized in a wide range of bird species. So far, the main focus has been on species within the bird orders Galliformes and Passeriformes, while Charadriiformes remain vastly underrepresented with only two species studied to date. These two Charadriiformes species exhibit striking differences in MHC-I characteristics and MHC-I diversity...
July 2017: Immunogenetics
https://www.readbyqxmd.com/read/28386644/mutational-profiling-in-the-peripheral-blood-leukocytes-of-patients-with-systemic-mast-cell-activation-syndrome-using-next-generation-sequencing
#18
Janine Altmüller, Britta Haenisch, Amit Kawalia, Markus Menzen, Markus M Nöthen, Heide Fier, Gerhard J Molderings
Mast cell activation syndrome (MCAS) and systemic mastocytosis (SM) are two clinical systemic mast cell activation disease variants. Few studies to date have investigated the genetic basis of MCAS. The present study had two aims. First, to investigate whether peripheral blood leukocytes from MCAS patients also harbor somatic mutations in genes implicated in SM using next-generation sequencing (NGS) technology and a relatively large MCAS cohort. We also addressed the question, whether some of the previously as somatic reported mutations are indeed germline mutations...
June 2017: Immunogenetics
https://www.readbyqxmd.com/read/28364129/the-scavenging-capacity-of-dmbt1-is-impaired-by-germline-deletions
#19
Floris J Bikker, Caroline End, Antoon J M Ligtenberg, Stephanie Blaich, Stefan Lyer, Marcus Renner, Rainer Wittig, Kamran Nazmi, Arie van Nieuw Amerongen, Annemarie Poustka, Enno C I Veerman, Jan Mollenhauer
The Scavenger Receptor Cysteine-Rich (SRCR) proteins are an archaic group of proteins characterized by the presence of multiple SRCR domains. They are membrane-bound or secreted proteins, which are generally related to host defense systems in animals. Deleted in Malignant Brain Tumors 1 (DMBT1) is a SRCR protein which is secreted in mucosal fluids and involved in host defense by pathogen binding by its SRCR domains. Genetic polymorphism within DMBT1 leads to DMBT1-alleles giving rise to polypeptides with interindividually different numbers of SRCR domains, ranging from 8 SRCR domains (encoded by 6 kb DMBT1 variant) to 13 SRCR domains (encoded by the 8 kb DMBT1 variant)...
June 2017: Immunogenetics
https://www.readbyqxmd.com/read/28332079/gorilla-mhc-class-i-gene-and-sequence-variation-in-a-comparative-context
#20
Jörg B Hans, Richard A Bergl, Linda Vigilant
Comparisons of MHC gene content and diversity among closely related species can provide insights into the evolutionary mechanisms shaping immune system variation. After chimpanzees and bonobos, gorillas are humans' closest living relatives; but in contrast, relatively little is known about the structure and variation of gorilla MHC class I genes (Gogo). Here, we combined long-range amplifications and long-read sequencing technology to analyze full-length MHC class I genes in 35 gorillas. We obtained 50 full-length genomic sequences corresponding to 15 Gogo-A alleles, 4 Gogo-Oko alleles, 21 Gogo-B alleles, and 10 Gogo-C alleles including 19 novel coding region sequences...
May 2017: Immunogenetics
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