Ask about this productRelated genes to: PUS10 Blocking Peptide
- Gene:
- PUS10 NIH gene
- Name:
- pseudouridine synthase 10
- Previous symbol:
- CCDC139
- Synonyms:
- FLJ32312
- Chromosome:
- 2p16.1-p15
- Locus Type:
- gene with protein product
- Date approved:
- 2007-07-10
- Date modifiied:
- 2018-09-12
Related products to: PUS10 Blocking Peptide
Related articles to: PUS10 Blocking Peptide
- Celiac disease (CD) is highly prevalent in the wheat eating population of India. While HLA-DQ genotype is the strongest genetic determinant of CD, other genetic factors are likely contribute to genesis of CD. In this case-control study, we determined the frequencies of single nucleotide polymorphisms (SNP) in non-HLA candidate genes that influence the development of CD. DNA obtained from peripheral blood of 376 patients with CD and 736 controls was used for the studies. Fifty-one candidate gene polymorphisms were identified for evaluation. Competitive allele-specific polymerase chain reactions were designed to genotype biallelic SNPs at the selected loci. The genotype and allelotype was determined using KASP genotyping technology in a real-time PCR instrument. Eighteen of the 51 SNPs tested associated strongly with CD. The strongest association was found with the HLA DQ2.5 haplotype. HLA DQ2.2 haplotype and HLA-DQ8 haplotype were also strongly associated with CD. Non-HLA genes that were significantly associated with CD included those associated with T cell receptor signaling and T cell activation - CD247, CD80, CD28, PRKCQ, TNFAIP3, UBASH3 and ARHGAP31; genes involved in inflammatory cell migration - CCR3 and CCR4; those involved in epithelial protection - GATD3, PARK7 and INAVA (C1orf106); and those influencing RNA - DDX6 and PUS10. We concluded that the non-HLA genes associated with CD in this Indian population were mostly those associated with molecules involved in the T cell receptor signaling pathway downstream to HLA-DQ2/8, which lead to immune and subsequent inflammatory activation. - Source: PubMed
Publication date: 2026/03/25
Ramakrishna Balakrishnan SSingh AlkaSrinivasan PugazhendhiVenugopal GiriprasadGayathri RAhmed AnamSingh NidhiDutta SangitanjanAhuja VineetMakharia Govind K - Inter-tumor heterogeneity poses significant challenges for precision therapy in thyroid cancer (TC). The conventional organoid models are limited by inefficiency and poor physiological relevance. - Source: PubMed
Publication date: 2026/02/27
Gao HengyuanLin JunqingChen XiaobingSu YingshiHuang YibinZhang YuboZhang JunchangXu NanDai Xiaoyong - INTRODUCTION: Sarcoidosis is an inflammatory disease driven by immune-mediated mechanisms, characterized by the formation of epithelioid cell granulomas and a wide range of clinical manifestations. Its phenotype is the result of a complex interplay of genetic and environmental factors, the precise roles and interactions of which remain poorly defined. AIM: To identify candidate genes and risk loci associated with sarcoidosis from large population datasets. To estimate the genetic heritability of the phenotype in selected ancestries. POPULATION AND METHODS: Public summary statistics from the FinnGen release 12 (European ancestry), pan UK BioBank Project (UKBB - European and African ancestry), Million Veteran Program (MVP - European and African ancestry), and Japan BioBank (East Asian ancestry) were included for European, African and multi-ancestry meta-analysis through sample size-based analysis. Novel risk loci and single nucleotide polymorphisms (SNPs) significantly associated with the disease were critically reviewed on the basis of the available literature. For each risk locus, SNPs highly correlated with the lead SNP were selected based on Combined Annotation Dependent Depletion (CADD) scores. Genetic heritability (h2) scores were obtained through ancestry-specific linkage-disequilibrium score calculation. RESULT: Overall 9659 cases (7559 European, 1880 African, 220 East Asian) and 1,665,804 controls (1,361,726 European, 126,411 African, 177,667 East Asian) were analysed. Nineteen and two risk loci were identified in European and African ancestry, respectively; h2 scores were 0.25 (European) and 0.19 (African). Candidate non-MHC genes for further explorations through functional studies included IL23R, PUS10, ACOXL, PLCL1, FAM117B, BMPR2, PPARG, ESYT2, ANXA11, CCDC88B, ATXN2, CCL24, RP11−540O11.1, HOMER2, CD19, UBASH3A, RNF215, and others. Interferon gamma signaling, meiotic recombination/condensation of prophase chromosomes, and DNA methylation were the most enriched gene sets in European and multi-ancestry meta-analysis. Multi-ancestry meta-analysis was confronted with FinnGen+UKBB+MVP meta-analysis (released by FinnGen freeze 12) yielding consistent results (18 risk loci identified) CONCLUSION: Nineteen and two risk loci were significantly associated with sarcoidosis for European and African ancestries, respectively. Moderate genetic heritability was observed for both ancestries. A set of significantly associated non-MHC genes and SNPs was obtained to investigate functional validation. Although further studies are warranted, epigenetic alterations may contribute to the risk of developing sarcoidosis - Source: PubMed
Publication date: 2025/12/29
Ricci AndreaAndolfi FedericaSabbatini DanieleGozzi FilippoBetto Giada DiVentura PaoloBuzzetti ElenaPietrangelo AntonelloClini EnricoTonelli RobertoAndrisani Dariode Guzman Marinduque Brent JuliusBergamini ElisaVecchi ChiaraPegoraro ElenaGregori DarioCorradini ElenaCerri Stefania - Pseudouridine (Ψ) is one of the most abundant RNA modifications in human cells, introduced post-transcriptionally by pseudouridine synthases (PUS). Despite its prevalence, the biological functions of Ψ remain poorly understood, largely due to the limited knowledge linking specific PUS enzymes to their targets. Here, to address this gap, we systematically knocked out or knocked down nine stand-alone PUS in HCT116 cells and mapped their Ψ profiles using 2-bromoacrylamide-assisted cyclization sequencing. Through this approach, we uncovered previously unknown targets of several PUS enzymes, including RPUSD1, RPUSD2, PUS3, PUSL1 and PUS7L. In addition, we revealed that TRUB1 and PUS10 function redundantly to catalyse the highly conserved Ψ55 modification in cytosolic tRNAs. Intriguingly, we found that RPUSD3 and TRUB2 do not exhibit noticeable enzymatic activities in human cells. By integrating these findings with earlier results for TRUB1, PUS7 and PUS1, we constructed a comprehensive map of stand-alone PUS-dependent Ψ modifications across human tRNAs. Using this map, we further demonstrated that different PUS enzymes introduce Ψ modifications at distinct stages of pre-tRNA processing. - Source: PubMed
Publication date: 2025/10/24
Xu HaiqiKong LinzhenLi MengjiePisignano GiuseppinaCheng JingfeiFeng FengMehdipour ParinazSong Chun-Xiao - This study investigates the shared genetic architecture between anxiety disorders (ADs) and ten autoimmune diseases: rheumatoid arthritis (RA), Crohn's disease (CD), ulcerative colitis (UC), psoriasis (PsO), mixed connective tissue disease (MCTD), graves' disease (GD), ankylosing spondylitis (AS), Sjögren's syndrome (SS), multiple sclerosis (MS), and systemic lupus erythematosus (SLE). It aims to identify shared risk loci, key immune traits, and genetic mechanisms contributing to the pathophysiology of these conditions. - Source: PubMed
Publication date: 2025/07/26
Lin HaitaoXiao YaoLiu YingqiaoLin XiaoyangLiu Xiqiang