Inflammation is a vital immune response that, while protecting the body, plays a significant role in the progression of non-communicable diseases when it becomes chronic. Given the conflicting evidence on the effect of probiotics on inflammatory gene expression, this meta-analysis aims to provide a comprehensive evaluation of their impact on the regulation of inflammatory genes in RCTs.
Methods
SCOPUS, EMBASE, PubMed, and Web of Science databases were systematically searched using standard keywords up to Feb 2025. Article selection and data extraction were conducted independently by two researchers. The quality assessment of the studies was performed using the ROB.
Results
A total of 9 RCTs with 197 interventions and 183 control participants were included in this meta-analysis. Probiotic supplementation significantly reduced the expression of TNF-α (SMD = −0.83; 95 % CI: −1.34, −0.31), IL-1 (SMD = −1.16; 95 % CI: −2.02, −0.30), and IL-8 (SMD = −1.40; 95 % CI: −2.64, −0.16), while no significant changes were observed in IL-10 expression (SMD = −0.06; 95 % CI: −1.05, 0.92).
Conclusion
This meta-analysis demonstrated that probiotic supplementation can potentially reduce the expression of inflammatory genes, including TNF-α, IL-1, and IL-8. Therefore, probiotics may be considered a potential adjunct therapy for reducing inflammation. However, further human studies are needed to better understand the therapeutic potential of probiotic supplements.
{"title":"Modulation of inflammatory gene expression by probiotics: A systematic review and meta-analysis of randomized controlled trials","authors":"Yaser Mohammadi , Shirin Teymouri-Nobari , Katayoon Asgari , Soudabeh Fallah , Omid Joodi-khanghah","doi":"10.1016/j.genrep.2025.102370","DOIUrl":"10.1016/j.genrep.2025.102370","url":null,"abstract":"<div><h3>Background</h3><div>Inflammation is a vital immune response that, while protecting the body, plays a significant role in the progression of non-communicable diseases when it becomes chronic. Given the conflicting evidence on the effect of probiotics on inflammatory gene expression, this meta-analysis aims to provide a comprehensive evaluation of their impact on the regulation of inflammatory genes in RCTs.</div></div><div><h3>Methods</h3><div>SCOPUS, EMBASE, PubMed, and Web of Science databases were systematically searched using standard keywords up to Feb 2025. Article selection and data extraction were conducted independently by two researchers. The quality assessment of the studies was performed using the ROB.</div></div><div><h3>Results</h3><div>A total of 9 RCTs with 197 interventions and 183 control participants were included in this meta-analysis. Probiotic supplementation significantly reduced the expression of TNF-α (SMD = −0.83; 95 % CI: −1.34, −0.31), IL-1 (SMD = −1.16; 95 % CI: −2.02, −0.30), and IL-8 (SMD = −1.40; 95 % CI: −2.64, −0.16), while no significant changes were observed in IL-10 expression (SMD = −0.06; 95 % CI: −1.05, 0.92).</div></div><div><h3>Conclusion</h3><div>This meta-analysis demonstrated that probiotic supplementation can potentially reduce the expression of inflammatory genes, including TNF-α, IL-1, and IL-8. Therefore, probiotics may be considered a potential adjunct therapy for reducing inflammation. However, further human studies are needed to better understand the therapeutic potential of probiotic supplements.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102370"},"PeriodicalIF":0.9,"publicationDate":"2025-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145462424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-30DOI: 10.1016/j.genrep.2025.102372
Mehul D. Shrimali , Harshad C. Chauhan , Sandip S. Patel , Janki D. Panchal , Arun C. Patel , Kishan K. Sharma , Aakash K. Thakore , Sushil K. Mohapatra , Bhavesh I. Prajapati
Purpose
This study investigates the prevalence, antibiotic resistance, and methicillin resistance (MR) patterns of Staphylococcus aureus, and non-aureus staphylococci and mammaliicocci (NASM) in bovine milk.
Methods
A total of 402 milk samples from cows and buffaloes, both healthy and mastitic, were analysed. Staphylococcal isolates were identified using conventional methods, PCR, and MALDI-TOF. Antibiotic susceptibility testing and methicillin resistance detection were performed using agar-based methods and PCR targeting mecA/mecC genes. Whole-genome sequencing (WGS) was carried out on two Staphylococcus epidermidis isolates.
Results
Among 402 samples, 134 (33.3%) yielded Staphylococcus spp., with S. aureus (52.23 %) being the most common coagulase-positive species. Predominant NASM species included S. chromogenes (11.19%), S. epidermidis (7.46 %), and S. sciuri (5.22 %), with S. sciuri now reclassified under Mammaliicoccus. Among the tested isolates, 57.46 % were resistant to penicillin G and 35.82 % to cefoxitin, whereas the highest proportion of susceptible isolates was observed with tetracycline (73.88 %) and chloramphenicol (73.13 %). Thirty isolates exhibited multidrug resistance, including three pan-resistant strains. Methicillin-resistant Staphylococci (MRS) were detected in 17.91 % and 23.13 % of isolates via oxacillin agar and CHROMagar, respectively. The mecA gene was present in 14.92 % of isolates, with varying prevalence across Methicillin-Resistant Coagulase-Positive Staphylococcus aureus (MRCoPSA) (47.36 %), Methicillin-Resistant Coagulase-Negative Staphylococcus aureus (MRCoNSA) (37.5 %), and Methicillin-Resistant Coagulase-Negative Staphylococci (MRCoNS) (66.66 %); no isolate harboured mecC. Staphylococcus epidermidis strains SKN228 and SKN421 revealed ∼2.4 Mb genomes, a G + C content of ∼32 %, and resistance genes (blaZ, vanT, mecA, mecD) associated with efflux pumps, enzymatic inactivation, and target modification in WGS.
Conclusions
These findings underscore the emerging significance of NASM in bovine mastitis and highlight the need for further study on mec-independent methicillin resistance mechanisms.
目的研究牛乳中金黄色葡萄球菌、非金黄色葡萄球菌和哺乳球菌(NASM)的流行、耐药性和耐甲氧西林(MR)模式。方法对402份健康和哺乳期奶牛和水牛的乳样进行分析。采用常规方法、PCR和MALDI-TOF对葡萄球菌分离物进行鉴定。采用琼脂法和PCR方法对mecA/mecC基因进行药敏试验和甲氧西林耐药检测。对两株表皮葡萄球菌进行全基因组测序(WGS)。结果402份样品中检出葡萄球菌134株(33.3%),其中金黄色葡萄球菌为最常见的凝固酶阳性菌(52.23%)。NASM的优势种为色球菌(11.19%)、表皮球菌(7.46%)和短尾球菌(5.22%),其中短尾球菌重新归入哺乳类球菌。其中,对青霉素G和头孢西丁的耐药率分别为57.46%和35.82%,而对四环素和氯霉素的耐药率分别为73.88%和73.13%。30株菌株表现出多重耐药,包括3株泛耐药菌株。oxacillin琼脂法和CHROMagar法分别检出17.91%和23.13%的耐甲氧西林葡萄球菌(MRS)。14.92%的分离株中存在mecA基因,在耐甲氧西林凝固酶阳性金黄色葡萄球菌(MRCoPSA)(47.36%)、耐甲氧西林凝固酶阴性金黄色葡萄球菌(MRCoNSA)(37.5%)和耐甲氧西林凝固酶阴性葡萄球菌(MRCoNS)(66.66%)中存在差异;没有孤立的港湾。表皮葡萄球菌菌株SKN228和SKN421的基因组为~ 2.4 Mb, G + C含量为~ 32%,抗性基因(blaZ, vanT, mecA, mecD)与外排泵、酶失活和WGS靶修饰相关。结论这些发现强调了NASM在牛乳腺炎中的新意义,并强调了进一步研究mem独立的甲氧西林耐药机制的必要性。
{"title":"Comparative analysis of Staphylococcus aureus, and non-aureus staphylococci and mammaliicocci (NASM) in bovine milk: Species distribution, resistance profiling and genomic characterisation","authors":"Mehul D. Shrimali , Harshad C. Chauhan , Sandip S. Patel , Janki D. Panchal , Arun C. Patel , Kishan K. Sharma , Aakash K. Thakore , Sushil K. Mohapatra , Bhavesh I. Prajapati","doi":"10.1016/j.genrep.2025.102372","DOIUrl":"10.1016/j.genrep.2025.102372","url":null,"abstract":"<div><h3>Purpose</h3><div>This study investigates the prevalence, antibiotic resistance, and methicillin resistance (MR) patterns of <em>Staphylococcus aureus</em>, and non-aureus staphylococci and mammaliicocci (NASM) in bovine milk.</div></div><div><h3>Methods</h3><div>A total of 402 milk samples from cows and buffaloes, both healthy and mastitic, were analysed. Staphylococcal isolates were identified using conventional methods, PCR, and MALDI-TOF. Antibiotic susceptibility testing and methicillin resistance detection were performed using agar-based methods and PCR targeting <em>mec</em>A/<em>mec</em>C genes. Whole-genome sequencing (WGS) was carried out on two <em>Staphylococcus epidermidis</em> isolates.</div></div><div><h3>Results</h3><div>Among 402 samples, 134 (33.3%) yielded <em>Staphylococcus</em> spp., with <em>S. aureus</em> (52.23 %) being the most common coagulase-positive species. Predominant NASM species included <em>S. chromogenes</em> (11.19%), <em>S. epidermidis</em> (7.46 %), and <em>S. sciuri</em> (5.22 %), with <em>S. sciuri</em> now reclassified under <em>Mammaliicoccus</em>. Among the tested isolates, 57.46 % were resistant to penicillin G and 35.82 % to cefoxitin, whereas the highest proportion of susceptible isolates was observed with tetracycline (73.88 %) and chloramphenicol (73.13 %). Thirty isolates exhibited multidrug resistance, including three pan-resistant strains. Methicillin-resistant Staphylococci (MRS) were detected in 17.91 % and 23.13 % of isolates via oxacillin agar and CHROMagar, respectively. The <em>mec</em>A gene was present in 14.92 % of isolates, with varying prevalence across Methicillin-Resistant Coagulase-Positive <em>Staphylococcus aureus</em> (MRCoPSA) (47.36 %), Methicillin-Resistant Coagulase-Negative <em>Staphylococcus aureus</em> (MRCoNSA) (37.5 %), and Methicillin-Resistant Coagulase-Negative Staphylococci (MRCoNS) (66.66 %); no isolate harboured <em>mec</em>C. <em>S</em><em>taphylococcus epidermidis</em> strains SKN228 and SKN421 revealed ∼2.4 Mb genomes, a G + C content of ∼32 %, and resistance genes (<em>bla</em>Z, <em>van</em>T, <em>mec</em>A, <em>mec</em>D) associated with efflux pumps, enzymatic inactivation, and target modification in WGS.</div></div><div><h3>Conclusions</h3><div>These findings underscore the emerging significance of NASM in bovine mastitis and highlight the need for further study on <em>mec</em>-independent methicillin resistance mechanisms.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102372"},"PeriodicalIF":0.9,"publicationDate":"2025-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145462427","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
This study aims to investigate the role of the RNASE9 gene mutation (c.1 + 1G > A) in male infertility, specifically focusing on its impact on sperm motility in patients with asthenozoospermia. Despite known genetic causes for azoospermia, the genetic basis of asthenozoospermia remains poorly understood. Given that RNASE9 is specifically expressed in the epididymis, where sperm maturation occurs, we hypothesized that mutations in RNASE9 might influence post-testicular sperm maturation. Whole-exome sequencing (WES) was performed on 20 Japanese patients with abnormal semen parameters to identify high-impact genetic variants. Variants were filtered based on allele frequencies in the 1000 Genomes Phase 3 East Asian (EAS) population and the Japanese 38KJPN database. RNASE9 was selected for further analysis, and the presence of the c.1 + 1G > A variant was confirmed in a cohort of 71 patients via Sanger sequencing. Sperm motility and other semen parameters were evaluated, and allele frequencies in asthenozoospermic, azoospermic, and normospermic groups were compared. The allele frequency of the RNASE9 (c.1 + 1G > A) variant was significantly higher in asthenozoospermic patients than in individuals with normal semen parameters (p = 0.022), while no significant difference was found in azoospermic patients. This suggests that the RNASE9 variant primarily affects sperm motility rather than sperm production. The RNASE9 (c.1 + 1G > A) mutation may contribute to reduced sperm motility in humans, likely impacting post-testicular sperm maturation. The findings provide new insights into the genetic factors affecting sperm motility, particularly in asthenozoospermia.
{"title":"Association of the RNASE9 c.1+1G>A splice site variant with decreased sperm motility in Japanese men","authors":"Shinichiro Saeki , Junko Otsuki , Noritoshi Enatsu , Xingqiang Wei , Naoto Mukaida , Ryota Okamoto , Saori Yoshimura , Keisuke Okada , Koji Chiba , Shoji Kokeguchi , Toshiroh Iwasaki , Yasuhiro Fujiwara , Mikiya Nakatsuka , Tetsuo Kunieda , Masahide Shiotani","doi":"10.1016/j.genrep.2025.102366","DOIUrl":"10.1016/j.genrep.2025.102366","url":null,"abstract":"<div><div>This study aims to investigate the role of the <em>RNASE9</em> gene mutation (c.1 + 1G > A) in male infertility, specifically focusing on its impact on sperm motility in patients with asthenozoospermia. Despite known genetic causes for azoospermia, the genetic basis of asthenozoospermia remains poorly understood. Given that <em>RNASE9</em> is specifically expressed in the epididymis, where sperm maturation occurs, we hypothesized that mutations in <em>RNASE9</em> might influence post-testicular sperm maturation. Whole-exome sequencing (WES) was performed on 20 Japanese patients with abnormal semen parameters to identify high-impact genetic variants. Variants were filtered based on allele frequencies in the 1000 Genomes Phase 3 East Asian (EAS) population and the Japanese 38KJPN database. <em>RNASE9</em> was selected for further analysis, and the presence of the c.1 + 1G > A variant was confirmed in a cohort of 71 patients via Sanger sequencing. Sperm motility and other semen parameters were evaluated, and allele frequencies in asthenozoospermic, azoospermic, and normospermic groups were compared. The allele frequency of the <em>RNASE9</em> (c.1 + 1G > A) variant was significantly higher in asthenozoospermic patients than in individuals with normal semen parameters (<em>p</em> = 0.022), while no significant difference was found in azoospermic patients. This suggests that the <em>RNASE9</em> variant primarily affects sperm motility rather than sperm production. The <em>RNASE9</em> (c.1 + 1G > A) mutation may contribute to reduced sperm motility in humans, likely impacting post-testicular sperm maturation. The findings provide new insights into the genetic factors affecting sperm motility, particularly in asthenozoospermia.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102366"},"PeriodicalIF":0.9,"publicationDate":"2025-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145462425","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-27DOI: 10.1016/j.genrep.2025.102369
Marija Rozman , Ana Planinić , Kristian Bodulić , Dijana Škorić , Paola Gršković , Anita Stojanović Marković , Petra Korać , Snježana Židovec-Lepej
Background
Epstein-Barr virus (EBV) exhibits significant molecular diversity, commonly classified into distinct variants based on specific polymorphisms in the latent membrane protein-1 (LMP-1) gene. Traditional analyses have largely relied on Sanger sequencing, which may be limited in detecting mixed variant populations and recombination events.
Objectives
This study aimed to evaluate whether high-throughput sequencing (HTS) using Oxford Nanopore Technology (ONT) provides a more comprehensive analysis of LMP-1 variants, particularly in samples previously identified as recombinants by Sanger sequencing.
Study design
Twenty-four peripheral blood samples from patients with EBV-associated infectious mononucleosis (IM), previously analysed by Sanger sequencing, were reevaluated using full-length LMP-1 sequencing via ONT.
Results
ONT sequencing enabled the reclassification of 11 samples initially identified as recombinants by Sanger sequencing as coinfections, based on the presence of dual polymorphisms at the same nucleotide positions. The remaining 12 samples showed concordant results with Sanger data, confirming their recombinant nature. Additionally, ONT identified an amino acid substitution at position 366 in 5/24 samples, leading to further reclassification of LMP-1 variants. In one case, ONT detected only a single LMP-1 variant (China1), contradicting earlier recombinant classification.
Conclusions
ONT-based HTS enables more detailed detection of LMP-1 recombinants and coinfections, offering a broader view of EBV molecular diversity compared to Sanger sequencing. This approach has potential implications for identifying high-risk EBV variants associated with malignancy and demonstrates feasibility for implementation in routine clinical virology. To our knowledge, this is the first study to apply ONT for comprehensive molecular analysis of EBV LMP-1 coinfections.
{"title":"Detection of Epstein-Barr virus coinfections based on LMP-1 gene diversity obtained by the high-throughput sequencing","authors":"Marija Rozman , Ana Planinić , Kristian Bodulić , Dijana Škorić , Paola Gršković , Anita Stojanović Marković , Petra Korać , Snježana Židovec-Lepej","doi":"10.1016/j.genrep.2025.102369","DOIUrl":"10.1016/j.genrep.2025.102369","url":null,"abstract":"<div><h3>Background</h3><div>Epstein-Barr virus (EBV) exhibits significant molecular diversity, commonly classified into distinct variants based on specific polymorphisms in the latent membrane protein-1 (LMP-1) gene. Traditional analyses have largely relied on Sanger sequencing, which may be limited in detecting mixed variant populations and recombination events.</div></div><div><h3>Objectives</h3><div>This study aimed to evaluate whether high-throughput sequencing (HTS) using Oxford Nanopore Technology (ONT) provides a more comprehensive analysis of LMP-1 variants, particularly in samples previously identified as recombinants by Sanger sequencing.</div></div><div><h3>Study design</h3><div>Twenty-four peripheral blood samples from patients with EBV-associated infectious mononucleosis (IM), previously analysed by Sanger sequencing, were reevaluated using full-length LMP-1 sequencing via ONT.</div></div><div><h3>Results</h3><div>ONT sequencing enabled the reclassification of 11 samples initially identified as recombinants by Sanger sequencing as coinfections, based on the presence of dual polymorphisms at the same nucleotide positions. The remaining 12 samples showed concordant results with Sanger data, confirming their recombinant nature. Additionally, ONT identified an amino acid substitution at position 366 in 5/24 samples, leading to further reclassification of LMP-1 variants. In one case, ONT detected only a single LMP-1 variant (China1), contradicting earlier recombinant classification.</div></div><div><h3>Conclusions</h3><div>ONT-based HTS enables more detailed detection of LMP-1 recombinants and coinfections, offering a broader view of EBV molecular diversity compared to Sanger sequencing. This approach has potential implications for identifying high-risk EBV variants associated with malignancy and demonstrates feasibility for implementation in routine clinical virology. To our knowledge, this is the first study to apply ONT for comprehensive molecular analysis of EBV LMP-1 coinfections.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102369"},"PeriodicalIF":0.9,"publicationDate":"2025-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145412790","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-27DOI: 10.1016/j.genrep.2025.102368
Kahli Zineb , Ait Baha Atmane , Habbane Mouna , Hassani Idrissi Hind , El Bassyouni Najlâa , Moudatir Mina , Semlali Mohammed Youssef , Akhouayri Omar
This systematic review examines the genetic polymorphisms associated with Behcet disease in Africa, focusing on SNPs and HLA class I and II gene variants. A structured search was conducted in the PubMed, Scopus, Web of Science, and ScienceDirect databases, according to rigorous inclusion and exclusion criteria. The analysis shows that Egypt is the most active country in terms of publications, followed by Tunisia and Morocco. Certain genes were analyzed collectively in all three countries. The CTLA-4 + 49 A variant was more at risk in Tunisia (OR = 4.63) and Egypt (OR = 3.08), showing a high association with disease susceptibility. Other variants, such as VDR-ApaI-a (OR = 2.09 in Egypt) and VDR-FokI-F (OR = 1.89 in Tunisia), have moderate associations. Inflammation-related polymorphisms, as TNF-α 1031C (OR = 1.65 in Tunisia) and TNF-α 1211C (OR = 1.68 in Morocco), also presented significant associations, though less strong. These results demonstrate the existence of regional variations in genetic susceptibility to Behcet and the importance of population-specific studies. This is the first such review on the African continent and paves the way for further studies into the region's genetic determinants of the disease.
{"title":"Genetic polymorphisms associated with Behçet's disease in Egypt, Tunisia, and Morocco: A systematic review","authors":"Kahli Zineb , Ait Baha Atmane , Habbane Mouna , Hassani Idrissi Hind , El Bassyouni Najlâa , Moudatir Mina , Semlali Mohammed Youssef , Akhouayri Omar","doi":"10.1016/j.genrep.2025.102368","DOIUrl":"10.1016/j.genrep.2025.102368","url":null,"abstract":"<div><div>This systematic review examines the genetic polymorphisms associated with Behcet disease in Africa, focusing on SNPs and HLA class I and II gene variants. A structured search was conducted in the PubMed, Scopus, Web of Science, and ScienceDirect databases, according to rigorous inclusion and exclusion criteria. The analysis shows that Egypt is the most active country in terms of publications, followed by Tunisia and Morocco. Certain genes were analyzed collectively in all three countries. The CTLA-4 + 49 A variant was more at risk in Tunisia (OR = 4.63) and Egypt (OR = 3.08), showing a high association with disease susceptibility. Other variants, such as VDR-<em>Apa</em>I-a (OR = 2.09 in Egypt) and VDR-<em>Fok</em>I-F (OR = 1.89 in Tunisia), have moderate associations. Inflammation-related polymorphisms, as TNF-α <img>1031C (OR = 1.65 in Tunisia) and TNF-α <img>1211C (OR = 1.68 in Morocco), also presented significant associations, though less strong. These results demonstrate the existence of regional variations in genetic susceptibility to Behcet and the importance of population-specific studies. This is the first such review on the African continent and paves the way for further studies into the region's genetic determinants of the disease.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102368"},"PeriodicalIF":0.9,"publicationDate":"2025-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145412789","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-27DOI: 10.1016/j.genrep.2025.102367
Maryam Dhary Kamel
Type IV osteogenesis imperfecta (OI) is classically associated with heterozygous variants in COL1A1, the gene encoding the α1-chain of type I collagen. Here we explore whether an ultra-rare missense change located in the collagen C-terminal pro-peptide—rs72656337 (NM_000088.4:c.3664G > T; p.Ala1222Ser, equivalent to p.Ala26Ser within exon 48)—could influence the molecular interaction between collagen and pamidronate disodium, a nitrogen-containing bisphosphonate routinely administered to children with type IV OI. All COL1A1 coding single-nucleotide variants were mined from dbSNP-156, filtered for C-terminal location and rarity (allele frequency < 4 × 10−6 in gnomAD v4), yielding rs72656337 as the sole candidate for structural analysis. Using an in silico approach, examined the structural impact of the rs72656337 variant on the Collagen alpha-1(I) chain, focusing on how it affects protein conformation. Molecular docking in MOE placed pamidronate in a mixed acidic–basic pocket of the C-terminal region with a top docking score of −8.07 kcal mol−1, forming hydrogen bonds to Asp59 (chain C) and Arg28 (chain B). Although direct collagen–pamidronate binding has not been demonstrated experimentally, our in-silico findings provide a testable framework for future biochemical assays and genotype-stratified studies in OI. As a hypothesis-generating study, our work motivates experimental validation (e.g., SPR/ITC with recombinant pro-peptides, hydroxyapatite-coated binding assays) and genotype-stratified clinical analyses to test whether C-terminal COL1A1 variants modify bisphosphonate efficacy in OI.
{"title":"Molecular and in silico analysis of pamidronate disodium interaction with type IV osteogenesis imperfecta caused by the ultra-rare COL1A1 Variant rs72656337 (c.3664G>T; p.Ala1222Ser)","authors":"Maryam Dhary Kamel","doi":"10.1016/j.genrep.2025.102367","DOIUrl":"10.1016/j.genrep.2025.102367","url":null,"abstract":"<div><div>Type IV osteogenesis imperfecta (OI) is classically associated with heterozygous variants in COL1A1, the gene encoding the α1-chain of type I collagen. Here we explore whether an ultra-rare missense change located in the collagen C-terminal pro-peptide—rs72656337 (NM_000088.4:c.3664G > T; p.Ala1222Ser, equivalent to p.Ala26Ser within exon 48)—could influence the molecular interaction between collagen and pamidronate disodium, a nitrogen-containing bisphosphonate routinely administered to children with type IV OI. All COL1A1 coding single-nucleotide variants were mined from dbSNP-156, filtered for C-terminal location and rarity (allele frequency < 4 × 10<sup>−6</sup> in gnomAD v4), yielding rs72656337 as the sole candidate for structural analysis. Using an in silico approach, examined the structural impact of the rs72656337 variant on the Collagen alpha-1(I) chain, focusing on how it affects protein conformation. Molecular docking in MOE placed pamidronate in a mixed acidic–basic pocket of the C-terminal region with a top docking score of −8.07 kcal mol<sup>−1</sup>, forming hydrogen bonds to Asp59 (chain C) and Arg28 (chain B). Although direct collagen–pamidronate binding has not been demonstrated experimentally, our in-silico findings provide a testable framework for future biochemical assays and genotype-stratified studies in OI. As a hypothesis-generating study, our work motivates experimental validation (e.g., SPR/ITC with recombinant pro-peptides, hydroxyapatite-coated binding assays) and genotype-stratified clinical analyses to test whether C-terminal COL1A1 variants modify bisphosphonate efficacy in OI.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102367"},"PeriodicalIF":0.9,"publicationDate":"2025-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145525828","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Fukuia kurodai ooyagii is a freshwater snail endemic to the Shimokita Peninsula, Japan, yet little is known about its mitochondrial genome or phylogenetic position. To address this, we sequenced the mitochondrial genomes of five individuals. The genomes ranged from 16,145 to 16,169 bp and included all 37 typical animal mitochondrial genes. Gene arrangement and nucleotide composition were consistent with other Truncatelloidea species. The control region featured long inverted repeats and AT-repeat regions. Phylogenetic analysis placed F. kurodai ooyagii within the Pomatiopsidae family, with moderate support for a closer relationship to Tricula hortensis than to Oncomelania species. These results provide the first complete mitochondrial genome sequences for this species, confirming its evolutionary stability within Pomatiopsidae. However, due to the lack of mitochondrial data for other Fukuia and Blanfordia species, its precise taxonomic status remains uncertain. This study offers a foundation for future comparative analyses and highlights the need for broader taxon sampling and additional genomic data to resolve phylogenetic relationships within this group.
{"title":"Mitochondrial genome sequencing and phylogenetic analysis of the freshwater snail Fukuia kurodai ooyagii (Pomatiopsidae)","authors":"Yuuki Ebata , Akira Ooyagi , Kazuo Umetsu , Takashi Kitano","doi":"10.1016/j.genrep.2025.102365","DOIUrl":"10.1016/j.genrep.2025.102365","url":null,"abstract":"<div><div><em>Fukuia kurodai ooyagii</em> is a freshwater snail endemic to the Shimokita Peninsula, Japan, yet little is known about its mitochondrial genome or phylogenetic position. To address this, we sequenced the mitochondrial genomes of five individuals. The genomes ranged from 16,145 to 16,169 bp and included all 37 typical animal mitochondrial genes. Gene arrangement and nucleotide composition were consistent with other Truncatelloidea species. The control region featured long inverted repeats and AT-repeat regions. Phylogenetic analysis placed <em>F. kurodai ooyagii</em> within the Pomatiopsidae family, with moderate support for a closer relationship to <em>Tricula hortensis</em> than to <em>Oncomelania</em> species. These results provide the first complete mitochondrial genome sequences for this species, confirming its evolutionary stability within Pomatiopsidae. However, due to the lack of mitochondrial data for other <em>Fukuia</em> and <em>Blanfordia</em> species, its precise taxonomic status remains uncertain. This study offers a foundation for future comparative analyses and highlights the need for broader taxon sampling and additional genomic data to resolve phylogenetic relationships within this group.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102365"},"PeriodicalIF":0.9,"publicationDate":"2025-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145358389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Transposable elements (TEs) are mobile genetic elements that can disrupt genomic integrity, influencing gene regulation and contributing to various diseases, including cancer. The accurate identification and characterization of TEs in high-throughput sequencing data is essential for understanding their role in genomic instability and tumorigenesis. To streamline this process, we developed MeX_Docker, a pipeline that utilizes Docker containerization to overcome software dependency issues and ensure reproducibility across different computing environments. Docker provides a standardized, portable solution that allows researchers to deploy and run the pipeline seamlessly, eliminating common obstacles in bioinformatics workflows. MeX_Docker integrates widely-used tools such as FastQC, Fastp, SAMtools, TEfinder, and Ensembl Variant Effect Predictor (VEP) for efficient data preprocessing, alignment, TE calling, and annotation. The pipeline was applied to human paired end whole-genome sequencing cancer datasets (breast, lung, and colorectal cancers), successfully identifying reference and non-reference Alu and L1 elements. In a lung cancer sample, an in-frame insertion in the CATSPERD gene was detected, which was classified as benign polymorphism. These findings highlight the use of MeX_Docker as an efficient tool for studying the impact of transposable elements on genomic instability and their potential role in cancer biology.
{"title":"MeX_Docker: An integrated application for transposon identification and annotation based on the Docker platform","authors":"P. Preeti , Mihir Nakul , Chhavi Dudeja , Abhishek Singh , Arushi Gupta , Yuktika Malhotra , Deepika Yadav , Kamal Rawal","doi":"10.1016/j.genrep.2025.102364","DOIUrl":"10.1016/j.genrep.2025.102364","url":null,"abstract":"<div><div>Transposable elements (TEs) are mobile genetic elements that can disrupt genomic integrity, influencing gene regulation and contributing to various diseases, including cancer. The accurate identification and characterization of TEs in high-throughput sequencing data is essential for understanding their role in genomic instability and tumorigenesis. To streamline this process, we developed MeX_Docker, a pipeline that utilizes Docker containerization to overcome software dependency issues and ensure reproducibility across different computing environments. Docker provides a standardized, portable solution that allows researchers to deploy and run the pipeline seamlessly, eliminating common obstacles in bioinformatics workflows. MeX_Docker integrates widely-used tools such as FastQC, Fastp, SAMtools, TEfinder, and Ensembl Variant Effect Predictor (VEP) for efficient data preprocessing, alignment, TE calling, and annotation. The pipeline was applied to human paired end whole-genome sequencing cancer datasets (breast, lung, and colorectal cancers), successfully identifying reference and non-reference Alu and L1 elements. In a lung cancer sample, an in-frame insertion in the CATSPERD gene was detected, which was classified as benign polymorphism. These findings highlight the use of MeX_Docker as an efficient tool for studying the impact of transposable elements on genomic instability and their potential role in cancer biology.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102364"},"PeriodicalIF":0.9,"publicationDate":"2025-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145412788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-18DOI: 10.1016/j.genrep.2025.102363
Junjie Wang , Xiaoqin Li , Xinghai Li , Yang Xu , Cuihua Xin , Jiangbo Guo
SKP1 (S-phase Kinase-associated Protein 1) functions as an adaptor protein connecting F-box proteins to Cullin1 in the SKP1-Cullin1-F-box (SCF) ubiquitin ligase complex, which performs essential functions in response to abiotic stresses. However, the specific roles of SKP1 in plant responses to tailings dam water stress remain unclear. This study identified 30 SKP1.1 family members in Nicotiana benthamiana through bioinformatics analysis. The expression patterns of NbSKP1.1 were evaluated using quantitative real-time polymerase chain reaction (qRT-PCR) when plants were subjected to tailings dam water stress. Results demonstrated that exposure to tailings dam water pollutants suppressed the expression of NbSKP1.1. Confocal imaging revealed that NbSKP1s (NbSKP1.1, NbSKP1.2, NbSKP1.3, and NbSKP1L1) exhibit dual localization in the nucleus and cytoplasm. This comprehensive analysis of the NbSKP1.1 family in plants establishes a foundation for future investigations into plant-environment interactions.
{"title":"Genome-wide identification, characterization, and expression analysis of the SKP1.1 family in Nicotiana benthamiana exposed to tailings dam wastewater","authors":"Junjie Wang , Xiaoqin Li , Xinghai Li , Yang Xu , Cuihua Xin , Jiangbo Guo","doi":"10.1016/j.genrep.2025.102363","DOIUrl":"10.1016/j.genrep.2025.102363","url":null,"abstract":"<div><div>SKP1 (S-phase Kinase-associated Protein 1) functions as an adaptor protein connecting F-box proteins to Cullin1 in the SKP1-Cullin1-F-box (SCF) ubiquitin ligase complex, which performs essential functions in response to abiotic stresses. However, the specific roles of SKP1 in plant responses to tailings dam water stress remain unclear. This study identified 30 <em>SKP1.1</em> family members in <em>Nicotiana benthamiana</em> through bioinformatics analysis. The expression patterns of NbSKP1.1 were evaluated using quantitative real-time polymerase chain reaction (qRT-PCR) when plants were subjected to tailings dam water stress. Results demonstrated that exposure to tailings dam water pollutants suppressed the expression of <em>NbSKP1.1</em>. Confocal imaging revealed that NbSKP1s (NbSKP1.1, NbSKP1.2, NbSKP1.3, and NbSKP1L1) exhibit dual localization in the nucleus and cytoplasm. This comprehensive analysis of the <em>NbSKP1.1</em> family in plants establishes a foundation for future investigations into plant-environment interactions.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102363"},"PeriodicalIF":0.9,"publicationDate":"2025-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145358390","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-18DOI: 10.1016/j.genrep.2025.102360
Yasir Adil Jabbar Alabdali
CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) and Cas (CRISPR associated proteins) are the acquired immune system in bacteria against foreign DNA pieces. Nevertheless, it is not known how prevalent cas5 (type I-C CRISPR-Cas) is and whether it has a clinical isolate phenotypic implication in Iraq. Pseudomonas aeruginosa is among the most harmful species of opportunistic pathogenic bacteria that lead to illness, particularly in patients with cystic fibrosis, burns, and wounds. Cas5 was found in 10 isolates (15.6 %) of P. aeruginosa in 64 clinical isolates of the bacteria, collected between January and April 2024 All of the total of ten cas5-positive isolates had the virulence genes plcH, plcN, lasB, toxA, exoS, and algD (100 %) present. Most notably, resistance to all the tested antibiotics was lower in cas5-positive isolates. These findings suggest the existence of the potential connection between cas5 carriage, antibiotic resistance and biofilm adherence.
Significance statement
The present study offers a clear understanding regarding the impact of the CRISPR-Cas5 system on the Pseudomonas aeruginosa resistance to antibiotics and presents new information that could be utilised to create an infection control strategy in patients with cystic fibrosis and burn injuries.
{"title":"Detection of cas5 and virulence genes in Pseudomonas aeruginosa from cystic fibrosis, and burn wounds: Impact on biofilm and antibiotic resistance","authors":"Yasir Adil Jabbar Alabdali","doi":"10.1016/j.genrep.2025.102360","DOIUrl":"10.1016/j.genrep.2025.102360","url":null,"abstract":"<div><div>CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) and Cas (CRISPR associated proteins) are the acquired immune system in bacteria against foreign DNA pieces. Nevertheless, it is not known how prevalent <em>cas5</em> (type I-C CRISPR-Cas) is and whether it has a clinical isolate phenotypic implication in Iraq. <em>Pseudomonas aeruginosa</em> is among the most harmful species of opportunistic pathogenic bacteria that lead to illness, particularly in patients with cystic fibrosis, burns, and wounds. Cas5 was found in 10 isolates (15.6 %) of <em>P. aeruginosa</em> in 64 clinical isolates of the bacteria, collected between January and April 2024 All of the total of ten cas5-positive isolates had the virulence genes <em>plcH</em>, <em>plcN</em>, <em>lasB</em>, <em>toxA</em>, <em>exoS</em>, and <em>algD</em> (100 %) present. Most notably, resistance to all the tested antibiotics was lower in cas5-positive isolates. These findings suggest the existence of the potential connection between cas5 carriage, antibiotic resistance and biofilm adherence.</div></div><div><h3>Significance statement</h3><div>The present study offers a clear understanding regarding the impact of the CRISPR-Cas5 system on the <em>Pseudomonas aeruginosa</em> resistance to antibiotics and presents new information that could be utilised to create an infection control strategy in patients with cystic fibrosis and burn injuries.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"41 ","pages":"Article 102360"},"PeriodicalIF":0.9,"publicationDate":"2025-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145358386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}