journal
MENU ▼
Read by QxMD icon Read
search

Immunogenetics

journal
https://www.readbyqxmd.com/read/28391359/the-prevalence-of-the-variants-of-the-l-ficolin-gene-fcn2-in-the-arctic-populations-of-east-siberia
#1
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/28386644/mutational-profiling-in-the-peripheral-blood-leukocytes-of-patients-with-systemic-mast-cell-activation-syndrome-using-next-generation-sequencing
#2
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...
April 6, 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
#3
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/28364129/the-scavenging-capacity-of-dmbt1-is-impaired-by-germline-deletions
#4
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)...
March 31, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28343239/improved-full-length-killer-cell-immunoglobulin-like-receptor-transcript-discovery-in-mauritian-cynomolgus-macaques
#5
Trent M Prall, Michael E Graham, Julie A Karl, Roger W Wiseman, Adam J Ericsen, Muthuswamy Raveendran, R Alan Harris, Donna M Muzny, Richard A Gibbs, Jeffrey Rogers, David H O'Connor
Killer cell immunoglobulin-like receptors (KIRs) modulate disease progression of pathogens including HIV, malaria, and hepatitis C. Cynomolgus and rhesus macaques are widely used as nonhuman primate models to study human pathogens, and so, considerable effort has been put into characterizing their KIR genetics. However, previous studies have relied on cDNA cloning and Sanger sequencing that lack the throughput of current sequencing platforms. In this study, we present a high throughput, full-length allele discovery method utilizing Pacific Biosciences circular consensus sequencing (CCS)...
March 25, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28332079/gorilla-mhc-class-i-gene-and-sequence-variation-in-a-comparative-context
#6
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...
March 22, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28315936/peptide-binding-motifs-of-two-common-equine-class-i-mhc-molecules-in-thoroughbred-horses
#7
Tobias Bergmann, Mikaela Lindvall, Erin Moore, Eugene Moore, John Sidney, Donald Miller, Rebecca L Tallmadge, Paisley T Myers, Stacy A Malaker, Jeffrey Shabanowitz, Nikolaus Osterrieder, Bjoern Peters, Donald F Hunt, Douglas F Antczak, Alessandro Sette
Quantitative peptide-binding motifs of MHC class I alleles provide a valuable tool to efficiently identify putative T cell epitopes. Detailed information on equine MHC class I alleles is still very limited, and to date, only a single equine MHC class I allele, Eqca-1*00101 (ELA-A3 haplotype), has been characterized. The present study extends the number of characterized ELA class I specificities in two additional haplotypes found commonly in the Thoroughbred breed. Accordingly, we here report quantitative binding motifs for the ELA-A2 allele Eqca-16*00101 and the ELA-A9 allele Eqca-1*00201...
March 18, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28246883/novel-linkage-disequilibrium-clustering-algorithm-identifies-new-lupus-genes-on-meta-analysis-of-gwas-datasets
#8
Mohammad Saeed
Systemic lupus erythematosus (SLE) is a complex disorder. Genetic association studies of complex disorders suffer from the following three major issues: phenotypic heterogeneity, false positive (type I error), and false negative (type II error) results. Hence, genes with low to moderate effects are missed in standard analyses, especially after statistical corrections. OASIS is a novel linkage disequilibrium clustering algorithm that can potentially address false positives and negatives in genome-wide association studies (GWAS) of complex disorders such as SLE...
February 28, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28233049/a-haplotype-spanning-p2x7r-p2x4r-and-camkk2-may-mark-susceptibility-to-pulmonary-non-tuberculous-mycobacterial-disease
#9
Samuel Halstrom, Catherine L Cherry, Michael Black, Rachel Thomson, Hayley Goullee, Svetlana Baltic, Richard Allcock, Suzanna E L Temple, Patricia Price
Despite widespread exposure to potentially pathogenic mycobacteria present in the soil and in domestic water supplies, it is not clear why only a small proportion of individuals contract pulmonary nontuberculous mycobacterial (NTM) infections. Here, we explore the impact of polymorphisms within three genes: P2X ligand gated ion channel 7 (P2X7R), P2X ligand gated ion channel 4 (P2X4R) and calcium/calmodulin-dependent protein kinase kinase 2 beta (CAMKK2) on susceptibility. Thirty single nucleotide polymorphisms (SNPs) were genotyped in NTM patients (n = 124) and healthy controls (n = 229)...
February 23, 2017: Immunogenetics
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
#10
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/28154890/single-nucleotide-polymorphisms-in-the-fc%C3%AE-r3a-and-tap1-genes-impact-adcc-in-cynomolgus-monkey-pbmcs
#11
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/28180967/the-evolution-of-the-natural-killer-complex-a-comparison-between-mammals-using-new-high-quality-genome-assemblies-and-targeted-annotation
#12
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...
April 2017: Immunogenetics
https://www.readbyqxmd.com/read/28084496/a-quick-and-robust-mhc-typing-method-for-free-ranging-and-captive-primate-species
#13
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...
April 2017: Immunogenetics
https://www.readbyqxmd.com/read/28078358/major-histocompatibility-complex-haplotyping-and-long-amplicon-allele-discovery-in-cynomolgus-macaques-from-chinese-breeding-facilities
#14
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...
April 2017: Immunogenetics
https://www.readbyqxmd.com/read/28070614/outgroup-alignment-and-modelling-improvements-indicate-that-two-tnfsf13-like-genes-existed-in-the-vertebrate-ancestor
#15
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...
March 2017: Immunogenetics
https://www.readbyqxmd.com/read/27921144/the-genetic-architecture-of-the-mhc-class-ii-region-in-british-texel-sheep
#16
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...
March 2017: Immunogenetics
https://www.readbyqxmd.com/read/27889800/polymorphism-at-expressed-dq-and-dr-loci-in-five-common-equine-mhc-haplotypes
#17
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...
March 2017: Immunogenetics
https://www.readbyqxmd.com/read/27796442/congenic-mapping-identifies-a-novel-idd9-subregion-regulating-type-1-diabetes-in-nod-mice
#18
Bixuan Lin, Ashley E Ciecko, Erin MacKinney, David V Serreze, Yi-Guang Chen
Type 1 diabetes (T1D) results from complex interactions between genetic and environmental factors. The nonobese diabetic (NOD) mouse develops spontaneous T1D and has been used extensively to study the genetic control of this disease. T1D is suppressed in NOD mice congenic for the C57BL/10 (B10)-derived Idd9 resistance region on chromosome 4. Previous studies conducted by other investigators have identified four subregions (Idd9.1, Idd9.2, Idd9.3, and Idd9.4) where B10-derived genes suppress T1D development in NOD mice...
March 2017: Immunogenetics
https://www.readbyqxmd.com/read/28124082/novel-compound-heterozygous-mutations-in-zap70-in-a-chinese-patient-with-leaky-severe-combined-immunodeficiency-disorder
#19
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/27933432/lupus-pathobiology-based-on-genomics
#20
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
journal
journal
24919
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"