ImmunogeneticsPub Date : 2024-02-01Epub Date: 2023-11-18DOI: 10.1007/s00251-023-01325-5
Mukaddes Colakogullari, Lokman Karatas, Zeynep Tatar
{"title":"Investigating associations between HLA DQA1 ~ DQB1 haplotypes, H. pylori infection, metaplasia, and anti-CagA IgA seropositivity in a Turkish gastritis cohort.","authors":"Mukaddes Colakogullari, Lokman Karatas, Zeynep Tatar","doi":"10.1007/s00251-023-01325-5","DOIUrl":"10.1007/s00251-023-01325-5","url":null,"abstract":"<p><p>Helicobacter pylori was reported as an important cause of gastritis, and gastric ulcers and CagA oncoprotein-producing H. pylori subgroups were blamed to increase the severity of gastritis. Disparities were reported in that the presence of serum anti-CagA IgA was not parallel with CagA-positive H. pylori cohabitation. We hypothesized that the HLA-DQA1 ~ DQB1 haplotypes in human populations include protective haplotypes that more effectively present immunogenic CagA peptides and susceptible haplotypes with an impaired capacity to present CagA peptides. We recruited patients (n = 201) admitted for gastroendoscopy procedures and performed high-resolution HLA-DQA1 and DQB1 typing. Serum anti-CagA IgA levels were analyzed by ELISA (23.0% positive), and H. pylori was classified as positive or negative in gastric mucosal tissue slides (72.6% positive). The HLA DQA1*05:05 allele (29.1%) and HLA DQB1*03:01 allele (32.8%) were found at the highest frequency among gastritis patients of Turkish descent. In HLA DQA1*05:05 ~ DQB1*03:01 double homozygous (7.3%) and heterozygous (40.7%) haplotype carriers, the presence of anti-CagA IgA decreased dramatically, the presence of H. pylori increased, and the presence of metaplasia followed a decreasing trend. The DQ protein encoded by HLA DQA1*05:05-DQ*03:01 showed a low binding affinity to the CagA peptide when binding capacity was analyzed by the NetMHCIIPan 4.0 prediction method. In conclusion, HLA DQA1 ~ DQB1 polymorphisms are crucial as host defense mechanisms against CagA H. pylori since antigen binding capacity plays a crucial role in anti-CagA IgA production.</p>","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":" ","pages":"1-13"},"PeriodicalIF":3.2,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136397245","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The impact of long COVID on health-related quality of life in patients 6 months after discharge with severe COVID-19.","authors":"Seyedeh Mahdieh Namayandeh, Moslem Basti, Sara Jambarsang, Seyed Mojtaba Yassini Ardekani","doi":"10.1007/s00251-023-01329-1","DOIUrl":"10.1007/s00251-023-01329-1","url":null,"abstract":"<p><p>This study investigates the relationship between long COVID and health-related quality of life (HRQOL) in patients discharged for 6 months. It included 192 patients with a history of severe COVID-19 and 192 patients with a history of non-severe COVID-19 patients that were selected through quota sampling methods from the Medical Care Monitoring Center (MCMC) of hospitals in Shiraz, Iran, in 2020. Phone-based interviews were conducted to collect data using the short form of the 12-item health-related quality of life (SF-12) questionnaire. Descriptive statistics, including mean (standard deviation) and frequency (percentage), were utilized. Statistical tests, such as the chi-squared test, independent samples t-test, Fisher's exact test, and multiple linear regression models were performed. Statistical analysis was performed using SPSS software version 24, with a significance level of 0.05. Among 384 patients, 79.95% were married, with a mean age of 53.95 years. The majority of patients in both groups were male (57.81% in the severe group and 51.04% in the non-severe group). Patients with severe COVID-19 had significantly lower quality of life scores compared to those with non-severe COVID-19 (p < 0.001, 34.45 [SD = 6.59] versus 39.64 [SD = 5.07]). Furthermore, multiple linear regression analysis indicated that severe COVID-19 inducts a significant negative effect on HRQOL in patients after adjustment of confounders (p < 0.001, B = - 4.84). Patients with severe COVID-19 had lower HRQOL compared to those with a non-severe level. It is necessary to consider implementing policies aimed at providing social, psychological, or medical support to improve the HRQOL of patients with a history of severe COVID-19.</p>","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":" ","pages":"27-35"},"PeriodicalIF":3.2,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139048681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
ImmunogeneticsPub Date : 2024-02-01Epub Date: 2023-12-20DOI: 10.1007/s00251-023-01328-2
A Awadi, H Ben Slimen, S Smith, M Makni, F Suchentrunk
{"title":"Patterns of evolution in MHC class II DQA and DQB exon 2 genes of Alpine mountain hares, Lepus timidus varronis, and sympatric and parapatric brown hares, L. europaeus, from Switzerland.","authors":"A Awadi, H Ben Slimen, S Smith, M Makni, F Suchentrunk","doi":"10.1007/s00251-023-01328-2","DOIUrl":"10.1007/s00251-023-01328-2","url":null,"abstract":"<p><p>In natural populations, hybridization is known to occur between a wide range of species. However, its evolutionary significance is less clear. Genes involved in fighting pathogens are considered excellent candidates for studying adaptive introgression, although both introgression and balancing selection can generate similar patterns of diversity and differentiation. Here, we compared DQA and DQB MHC class II and microsatellite allelic diversity of sympatric and parapatric mountain (Lepus timidus) and brown hare (L. europaeus) populations from Switzerland. We detected higher genetic diversity in brown hares compared to mountain hares at both MHC and microsatellite loci. We consider the observed patterns of microsatellite diversity both for L. europaeus and L. timidus as result of stochastic demographic processes while the pattern of MHC polymorphism of the studied hare populations can be explained by pathogen-driven selection. Rare bidirectional gene flow between both hare species seems to occur specifically for MHC alleles. However, the high number of shared alleles showing similar high frequency in both species suggests that reciprocally exchanged MHC alleles are being maintained via balancing selection. Adaptation to similar pathogen communities can also lead to parallel selection of MHC alleles. Positive selection, recombination and mutations have played different roles in shaping the patterns of MHC allelic diversity in and differentiation between both species. Results for the latter evolutionary forces do not show a better matching between the sympatric populations compared to the parapatric ones, suggesting a minor role of introgression for the observed evolutionary patterns of the studied hare species.</p>","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":" ","pages":"37-50"},"PeriodicalIF":3.2,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138803653","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A novel missense mutation in the AIRE gene underlying autoimmune polyglandular syndrome type 1.","authors":"Susana Vitozzi, Silvia Graciela Correa, Alejandro Lozano, Eduardo Jorge Fernández, Rodrigo Quiroga","doi":"10.1007/s00251-023-01324-6","DOIUrl":"10.1007/s00251-023-01324-6","url":null,"abstract":"<p><p>The immune regulator gene AIRE plays an essential role in the establishment of immune tolerance and the prevention of autoimmunity. This transcription factor plays a critical role in promoting self-tolerance in the thymus by regulating the expression of a large number of self-antigens that share the common feature of being tissue-restricted in their expression pattern in the periphery. Dysfunction of AIRE in humans causes a rare disease, autoimmune polyglandular syndrome type 1 (APS1), characterized by an autoimmune response against peripheral tissues, particularly endocrine tissues. Although a few dominant mutations have been described, the inactivation of AIRE is usually caused by recessive mutations. Recent data suggests that alterations in AIRE function contribute not only to APS1 but also to more common forms of autoimmune disease. Here, we present a previously unreported missense mutation (NM_000383.2:c.260 T > C) in exon 2 of the AIRE gene, predicted to cause the substitution (p.(Leu87Pro)) in the CARD domain of the AIRE protein. When inherited in conjunction with another dysfunctional AIRE allele, this mutation was associated with immune dysregulation in a pediatric patient. The presence of hypergammaglobulinemia, malabsorption syndrome, ectodermal dysplasia, mucocutaneous candidiasis, vitiligo, and hypothyroidism as well as the presence of multiple autoantibodies allowed us to confirm an APS1 diagnosis.</p>","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":" ","pages":"69-74"},"PeriodicalIF":3.2,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138459739","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
ImmunogeneticsPub Date : 2023-12-08DOI: 10.1007/s00251-023-01326-4
Samuel Stróż, Piotr Kosiorek, Anna Stasiak-Barmuta
{"title":"The COVID-19 inflammation and high mortality mechanism trigger","authors":"Samuel Stróż, Piotr Kosiorek, Anna Stasiak-Barmuta","doi":"10.1007/s00251-023-01326-4","DOIUrl":"https://doi.org/10.1007/s00251-023-01326-4","url":null,"abstract":"<p>The COVID-19 pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) lasted from March 2020 to May 2023, infecting over 689 million and causing 6.9 million deaths globally. SARS-CoV-2 enters human cells via the spike protein binding to ACE2 receptors, leading to viral replication and an exaggerated immune response characterized by a “cytokine storm.” This review analyzes the COVID-19 pathogenesis, strains, risk factors for severe disease, and vaccine types and effectiveness. A systematic literature search for 2020–2023 was conducted. Results show the cytokine storm underlies COVID-19 pathogenesis, causing multiorgan damage. Key viral strains include Alpha, Beta, Gamma, Delta, and Omicron, differing in transmissibility, disease severity, and vaccine escape. Risk factors for severe COVID-19 include older age, obesity, and comorbidities. mRNA, viral vector, and inactivated vaccines effectively prevent hospitalization and death, although new variants exhibit some vaccine escape. Ongoing monitoring of emerging strains and vaccine effectiveness is warranted. This review provides updated information on COVID-19 pathogenesis, viral variants, risk factors, and vaccines to inform public health strategies for containment and treatment.</p>","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":"6 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2023-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138552504","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
ImmunogeneticsPub Date : 2023-12-01Epub Date: 2023-10-07DOI: 10.1007/s00251-023-01322-8
Chunhong Liang, Lin Sun, Ying Zhu, Ayong Zhao, Hongyi Liu, Ke He
{"title":"Macroevolution of avian T cell receptor C segments using genomic data.","authors":"Chunhong Liang, Lin Sun, Ying Zhu, Ayong Zhao, Hongyi Liu, Ke He","doi":"10.1007/s00251-023-01322-8","DOIUrl":"10.1007/s00251-023-01322-8","url":null,"abstract":"<p><p>All jawed vertebrates have four T cell receptor (TCR) chains expressed by thymus-derived lymphocytes that play a significant role in animal immune defense. However, avian TCR studies have been limited to a few species, although their co-functional major histocompatibility complexes (MHCs) have been studied for decades, showing various copy numbers and polymorphisms. Here, using public genome data, we characterized the copy numbers, the phylogenic relationship and selection of T cell receptor complex (TCR-C) segments, and the genomic organization of TCR loci across birds. Various numbers of C segments were found in the TCRα/TCRδ, TCRβ, and TCRγ loci, and phylogenetic analysis reflected both ancient gene duplication events (two Cβ segments and Cδ segments divergent into CδI and CδII) and contemporary evolution (lineage-specific and species-specific characteristics). Most passerines lack CδII segments and a second TRD locus, except Meliphagidae and Maluridae. A relatively stable structure was verified in four TCR loci of birds, except for the arrangement of V segment groups. In this study, we explored the phylogenetic relationships of TCR-C segments across avians for the first time. We inferred gene duplication and loss events during the evolution process. The finding of diverse TCR germline repertoires provides a better understanding of the immune systems of birds.</p>","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":" ","pages":"531-541"},"PeriodicalIF":3.2,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41121179","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
ImmunogeneticsPub Date : 2023-12-01Epub Date: 2023-09-22DOI: 10.1007/s00251-023-01319-3
Morgan E Janes, Allison Kinlein, Martin F Flajnik, Louis Du Pasquier, Yuko Ohta
{"title":"Genomic view of the origins of cell-mediated immunity.","authors":"Morgan E Janes, Allison Kinlein, Martin F Flajnik, Louis Du Pasquier, Yuko Ohta","doi":"10.1007/s00251-023-01319-3","DOIUrl":"10.1007/s00251-023-01319-3","url":null,"abstract":"<p><p>NKp30 is an activating natural killer cell receptor (NKR) with a single-exon variable (VJ)-type immunoglobulin superfamily (IgSF) domain. Such VJ-IgSF domains predate the emergence of the antigen receptors (immunoglobulin and T cell receptor), which possess the same domain but undergo gene rearrangement. NCR3, the gene encoding NKp30, is present in jawed vertebrates from sharks to mammals; thus, unlike most NKR that are highly divergent among vertebrate taxa, NKp30 is uniquely conserved. We previously hypothesized that an ancestral NCR3 gene was encoded in the proto-major histocompatibility complex (MHC), the region where many immune-related genes have accumulated. Herein, we searched in silico databases to identify NCR3 paralogues and examined their genomic locations. We found a paralogue, NCR3H, in many vertebrates but was lost in mammals. Additionally, we identified a set of voltage-gated sodium channel beta (SCNB) genes as NCR3-distantly-related genes. Like NCR3, both NCR3H and SCNB proteins contain a single VJ-IgSF domain followed by a transmembrane region. These genes map to MHC paralogous regions, originally described in an invertebrate, along with genes encoding cell adhesion molecules involved in NK cell recognition networks. Other genes having no obvious relationship to immunity also map to these paralogous regions. These gene complexes were traced to several invertebrates, suggesting that the foundation of these cellular networks emerged before the genome-wide duplications in early gnathostome history. Here, we propose that this ancestral region was involved in cell-mediated immunity prior to the emergence of adaptive immunity and that NCR3 piggybacked onto this primordial complex, heralding the emergence of vertebrate NK cell/T cells.</p>","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":" ","pages":"479-493"},"PeriodicalIF":3.2,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11019866/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41133594","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
ImmunogeneticsPub Date : 2023-12-01Epub Date: 2023-09-25DOI: 10.1007/s00251-023-01320-w
K A Morrissey, M R Stammnitz, E Murchison, R D Miller
{"title":"Comparative genomics of the T cell receptor μ locus in marsupials and monotremes.","authors":"K A Morrissey, M R Stammnitz, E Murchison, R D Miller","doi":"10.1007/s00251-023-01320-w","DOIUrl":"10.1007/s00251-023-01320-w","url":null,"abstract":"<p><p>T cells are a primary component of the vertebrate adaptive immune system. There are three mammalian T cell lineages based on their T cell receptors (TCR). The αβ T cells and γδ T cells are ancient and found broadly in vertebrates. The more recently discovered γμ T cells are uniquely mammalian and only found in marsupials and monotremes. In this study, we compare the TCRμ locus (TRM) across the genomes of two marsupials, the gray short-tailed opossum and Tasmanian devil, and one monotreme, the platypus. These analyses revealed lineage-specific duplications, common to all non-eutherian mammals described. There is conserved synteny in the TRM loci of both marsupials but not in the monotreme. Our results are consistent with an ancestral cluster organization which was present in the last common mammalian ancestor which underwent lineage-specific duplications and divergence among the non-eutherian mammals.</p>","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":" ","pages":"507-515"},"PeriodicalIF":2.9,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7615758/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41146868","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
ImmunogeneticsPub Date : 2023-12-01Epub Date: 2023-10-19DOI: 10.1007/s00251-023-01323-7
Lavinia Haikukutu, Japhet R Lyaku, Charles M Lyimo, Seth J Eiseb, Rhodes H Makundi, Ayodeji Olayemi, Kerstin Wilhelm, Nadine Müller-Klein, Dominik W Schmid, Ramona Fleischer, Simone Sommer
{"title":"Immunogenetics, sylvatic plague and its vectors: insights from the pathogen reservoir Mastomys natalensis in Tanzania.","authors":"Lavinia Haikukutu, Japhet R Lyaku, Charles M Lyimo, Seth J Eiseb, Rhodes H Makundi, Ayodeji Olayemi, Kerstin Wilhelm, Nadine Müller-Klein, Dominik W Schmid, Ramona Fleischer, Simone Sommer","doi":"10.1007/s00251-023-01323-7","DOIUrl":"10.1007/s00251-023-01323-7","url":null,"abstract":"<p><p>Yersinia pestis is a historically important vector-borne pathogen causing plague in humans and other mammals. Contemporary zoonotic infections with Y. pestis still occur in sub-Saharan Africa, including Tanzania and Madagascar, but receive relatively little attention. Thus, the role of wildlife reservoirs in maintaining sylvatic plague and spillover risks to humans is largely unknown. The multimammate rodent Mastomys natalensis is the most abundant and widespread rodent in peri-domestic areas in Tanzania, where it plays a major role as a Y. pestis reservoir in endemic foci. Yet, how M. natalensis' immunogenetics contributes to the maintenance of plague has not been investigated to date. Here, we surveyed wild M. natalensis for Y. pestis vectors, i.e., fleas, and tested for the presence of antibodies against Y. pestis using enzyme-linked immunosorbent assays (ELISA) in areas known to be endemic or without previous records of Y. pestis in Tanzania. We characterized the allelic and functional (i.e., supertype) diversity of the major histocompatibility complex (MHC class II) of M. natalensis and investigated links to Y. pestis vectors and infections. We detected antibodies against Y. pestis in rodents inhabiting both endemic areas and areas considered non-endemic. Of the 111 nucleotide MHC alleles, only DRB*016 was associated with an increased infestation with the flea Xenopsylla. Surprisingly, we found no link between MHC alleles or supertypes and antibodies of Y. pestis. Our findings hint, however, at local adaptations towards Y. pestis vectors, an observation that more exhaustive sampling could unwind in the future.</p>","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":" ","pages":"517-530"},"PeriodicalIF":3.2,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10651713/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49677109","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
ImmunogeneticsPub Date : 2023-12-01Epub Date: 2023-10-06DOI: 10.1007/s00251-023-01321-9
Paul W Wright, Hongchuan Li, Md Ahasanur Rahman, Erik M Anderson, Megan Karwan, Jeffrey Carrell, Stephen K Anderson
{"title":"The KIR2DL1 intermediate upstream element participates in gene activation.","authors":"Paul W Wright, Hongchuan Li, Md Ahasanur Rahman, Erik M Anderson, Megan Karwan, Jeffrey Carrell, Stephen K Anderson","doi":"10.1007/s00251-023-01321-9","DOIUrl":"10.1007/s00251-023-01321-9","url":null,"abstract":"<p><p>The human KIR genes encode a family of class I MHC receptors that are expressed on subsets of NK cells. The expression of KIR proteins is controlled by a stochastic process, and competition between sense and antisense promoter elements has been suggested to program the variegated expression of these genes. Previous studies have demonstrated distinct roles of distal, intermediate, and proximal sense promoter/enhancer elements in gene activation and expression. Conversely, proximal and intronic antisense promoter transcripts have been associated with gene silencing at different stages of NK cell development. In the current study, we examine the effect of intermediate promoter deletion on KIR2DL1 expression in the YTS cell line. Homozygous deletion of the KIR2DL1 intermediate element did not affect proximal promoter activity but resulted in increased detection of upstream transcripts. No significant changes in alternative mRNA splicing or expression levels of KIR2DL1 protein were observed. However, intermediate element deletion was associated with a reduced frequency of gene activation by 5-azacytidine. Taken together, these results indicate that the intermediate element is not an enhancer required for KIR expression; however, it is required for the efficient activation of the gene.</p>","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":" ","pages":"495-506"},"PeriodicalIF":3.2,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10651540/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41129347","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}