Journal of Applied Genetics最新文献

{"title":"Discovery of core genes and intercellular communication role in osteosarcoma.","authors":"Fanyu Meng, Xinshe Zhou, Zhi Zhao, Lijia Pei, Weiguo Xia","doi":"10.1007/s13353-024-00872-1","DOIUrl":"10.1007/s13353-024-00872-1","url":null,"abstract":"<p><p>Osteosarcoma is a primary malignant bone tumor that affects children and young adults. Understanding the molecular mechanisms underlying osteosarcoma is critical to develop effective treatments. This study aimed to identify core genes and explore the role of intercellular communication in osteosarcoma. We used GSE87437 and GSE152048 dataset to conduct a weighted correlation network analysis (WGCNA) and identify co-expression modules. The enriched biological processes and cellular components of the genes in the steelblue module were analyzed. Next, we explored the expression, diagnostic value, correlation, and association with immune infiltrate of CCSER1 and LOC101929154. Finally, we utilized CIBERSORT algorithm to predict the infiltrated immune cells in osteosarcoma tissues. Our results identified 44 co-expression modules, and the steelblue module was mainly associated with axon development, axonogenesis, and innervation. CCSER1 and LOC101929154 were significantly upregulated in osteosarcoma tissues with poor response to preoperative chemotherapy. Moreover, the expressions of CCSER1 and LOC101929154 were positively correlated. The area under the receiver operating characteristic curve of CCSER1 and LOC101929154 was 0.800 and 0.773, respectively. The expression of CCSER1 was negatively correlated with follicular helper T cells and positively correlated with M0 macrophages, while LOC101929154 was negatively correlated with activated mast cells. Besides, CD4 memory-activated T cells were observed at lower levels in patients who responded well to chemotherapy. Our study identified core genes CCSER1 and LOC101929154 and provided insight into the intercellular communication profile in osteosarcoma. Our results suggested that targeting CCSER1, LOC101929154, and CD4 memory-activated T cells may be a promising strategy for the treatment of osteosarcoma.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":"323-332"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141175235","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Modulatory effects of in ovo delivery of galactooligosaccharide and Lactiplantibacillus plantarum on antioxidant capacity, gene expression, and selected plasma metabolite parameters of broiler chickens.","authors":"Modou Mangan, Katarzyna Połtowicz, Cornelia C Metges, Maria Siwek","doi":"10.1007/s13353-024-00931-7","DOIUrl":"10.1007/s13353-024-00931-7","url":null,"abstract":"<p><p>A stable gut microbiota promotes a healthy gut and enhances immune function, antioxidant status, and metabolic activities in chickens. The present research work aimed to investigate the modulatory impacts of in ovo delivery of prebiotic and probiotic on oxidative stress, the intestinal transcriptome, and various plasma metabolites in chickens. Fertilized Ross 308 eggs were administered in ovo either with galactooligosaccharide (GOS) (3.5 mg/egg or Lactiplantibacillus plantarum (LP) 1 × 10⁶/egg on the 12th day of egg incubation. Three hundred viable Ross 308 broiler hatching eggs in total were randomly assigned to four groups, namely, the negative control not injected group, the group receiving physiological saline injections as the positive control, GOS, and LP. The analysis of genes associated with immune functions, antioxidants, barrier functions, and free fatty acid receptors were determined via qPCR. The analysis of the selected plasma blood metabolites was performed automatically with Pentra C 400. The antioxidant capacity of the chickens' liver, breast muscle, and spleen was enhanced by the in ovo injection of GOS and LP. The immune-related gene expression levels were upregulated after in ovo stimulation with either GOS or LP which improved the gut health of broiler chickens. In addition, several genes related to gut barrier functions were upregulated, thus ensuring epithelial integrity. As for blood plasma metabolites, no adverse effects were observed. In summary, we report that in ovo stimulation with either GOS or LP stimulates the immune system and improves the antioxidant status and gut health of chickens with no negative impact on plasma blood metabolite indices.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":"421-434"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12000254/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142813224","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Endometrial factors and pregnancy loss frequency in recurrent pregnancy loss patients: comparing RT-PCR microbiology, microbial cultures, and immunohistochemistry of endometrium biopsy.","authors":"K Klimaszyk, P Wirstlein, K Bednarek-Rajewska, M Jankowski, H Svarre Nielsen, E Wender Ożegowska, M Kędzia","doi":"10.1007/s13353-025-00949-5","DOIUrl":"10.1007/s13353-025-00949-5","url":null,"abstract":"<p><p>The objective of this study is to investigate the presence of bacteria in endometrial samples from patients with recurrent pregnancy loss (RPL) and explore potential correlations between bacterial presence, chronic endometritis, and previous pregnancy loss history. Endometrial samples from 90 RPL patients were analysed using RT-PCR to detect 10 specific bacterial species. A subgroup of 65 patients underwent additional microbial culture and immunohistochemistry for plasma cell identification. Correlations between bacterial presence, chronic endometritis, and the number of previous pregnancy losses were evaluated. We detected at least one out of 10 chosen bacteria DNA by RT-PCR in 24.4% (22/90) of endometrial samples. Patients with PCR-identified bacteria had a significantly higher number of previous pregnancy losses (median 3 vs 2, p = 0.01). No correlation was observed between bacterial presence and chronic endometritis diagnosis. A significant correlation was found between bacterial detection by PCR and microbial culture (p = 0.03), though culture methods detected fewer positive cases. In RPL patients, detecting DNA from at least one of 10 selected bacterial species by RT-PCR correlates with a higher number of previous pregnancy losses. However, this bacterial presence does not correlate with chronic endometritis diagnosis based on the CD138 immunohistochemistry-identified plasma cell count. These findings suggest a potential role of endometrial bacteria in RPL that may be independent of the classical inflammatory response associated with chronic endometritis.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":"459-468"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12000213/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143457813","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic and molecular mechanisms underlying the male sterility in rice.","authors":"Amir Sohail, Chengkai Lu, Peng Xu","doi":"10.1007/s13353-024-00923-7","DOIUrl":"10.1007/s13353-024-00923-7","url":null,"abstract":"<p><p>Male reproductive development is a complex and highly ordered phenomenon which demands comprehensive understandings of underlying molecular mechanisms to expand its scope for crop improvement. Genetic manipulation of male fertility/sterility is critical for crop hybrid breeding. Although male sterility is not a good trait for the plant itself, its wider application in hybrid rice breeding has made it valuable. The currently widely used male sterile line breeding systems mainly include the following: three-line hybrid rice based on cytoplasmic male sterility and two-line hybrid rice based on environmentally sensitive gene male sterility. The study of male sterility is an excellent thoroughfare to critically understand the regulatory mechanisms essential for the complicated male reproductive developmental process. The unique trait of male sterility also provides valuable resources and convenience for the genetic improvement of rice hybrids. Therefore, deeper and broader understandings about the genetic causes of male sterility are necessary for both basic studies and rice genetic improvement.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":"251-265"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142769047","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction to: Unraveling the genetic basis of MODY: insights from next‑generation sequencing.","authors":"Metin Eser, Gulam Hekimoglu, Fatma Dursun","doi":"10.1007/s13353-024-00914-8","DOIUrl":"10.1007/s13353-024-00914-8","url":null,"abstract":"","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":"469"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142465955","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expanding TBCE-related phenotype-novel variant causing rigid spine, eosinophilia, neutropenia, and nocturnal hypoxemia.","authors":"Magdalena Badura-Stronka, Adam Sebastian Hirschfeld, Evgenia Globa, Anna Winczewska-Wiktor, Anna Potulska-Chromik, Anna Kostera-Pruszczyk, Dorota Wicher, Maciej Robert Krawczyński","doi":"10.1007/s13353-024-00894-9","DOIUrl":"10.1007/s13353-024-00894-9","url":null,"abstract":"<p><p>We report three patients with the novel variant c.100 + 1G > A of the TBCE gene and describe the presented clinical phenotype in detail. We also systematically reviewed the literature for clinical similarities and dissimilarities among all known patients with pathogenic TBCE variants. The clinical phenotype observed in patients with pathogenic TBCE variants is broader than previously described. Homozygous carriers of the c.100 + 1G > A variant exhibit a markedly milder clinical course, with no deviations in the calcium-phosphate metabolism and central nervous system pathology in MRI studies. Additionally, two patients manifest highly specific symptoms such as a rigid spine, eosinophilia, neutropenia, and nocturnal hypoxemia. Furthermore, cryptorchidism was observed in male patients. The identification of the pathogenic c.100 + 1G > A variant has thus far been limited to patients of Central-Eastern European descent, suggesting a potential founder mutation in this population.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":"363-373"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12000180/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141995764","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular characterization of doublesex and Mab-3 (DMRT) gene family in Ctenopharyngodon idella (grass carp).","authors":"Shakeela Parveen, Muhammad Farhan Khan, Mehwish Sultana, Saif Ur Rehman, Laiba Shafique","doi":"10.1007/s13353-024-00924-6","DOIUrl":"10.1007/s13353-024-00924-6","url":null,"abstract":"<p><p>Doublesex and Mab-3 (DMRT) gene family is a diverse group of transcriptional factors crucially involved in sex differentiation and biological processes such as body growth and differentiation in vertebrates. In this study, we analyzed DMRT genes structural characterization and physiochemical properties, and elucidated their functional role as a ligand of different gonadal receptors including androgen (AR), estrogen β (ER-β), estrogen γ (ER-γ), and progesterone (PR). All six genes of the DMRT gene family in grass carp (Ctenopharyngodon Idella Valenciennes, 1844) exhibited an acidic nature. These DMRT genes are primarily localized in the nucleus, where they play a role in DNA binding via doublesex DNA binding motif. All the DMRT gene pairs are under strong purifying selection with two segmental duplications envisaged about 18.30 (DMRT3a/DMRTA2) and 24.90 (DMRT2b/DMRT2a) million years ago (MYA). Recombination analysis revealed six potential recombinant breakpoints posing substantial evolutionary pressure for diverse cellular functioning of DMRT isoforms. Moreover, the DMRTA1 protein had a highest binding affinity of - 270.42 and - 267.16 for androgen receptors (AR) and progesterone receptors (PR), whereas, for estrogen receptors ER-β and ER-γ, the maximum binding affinity was observed with DMRT2a and DMRT2b proteins showing a docking score of - 254.22 and - 261.71, respectively. First time we studied the binding scores and interface residues of the DMRT genes as a ligand of gonadal receptors that play a crucial role in fish growth, sex development and differentiation, and spermatogenesis and oocyte maturation. The present study provides a molecular basis for DMRT genes in grass carp that may serve as a reference for in-depth phylogenomic study in other species.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":"409-420"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142739464","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hfq influences ciprofloxacin accumulation in Escherichia coli independently of ompC and ompF post-transcriptional regulation.","authors":"Florian Turbant, Natalia Lewandowska, Sylwia Bloch, Frank Wien, Hugo Chauvet, Grzegorz Węgrzyn, Véronique Arluison","doi":"10.1007/s13353-025-00945-9","DOIUrl":"10.1007/s13353-025-00945-9","url":null,"abstract":"<p><p>The antibiotic resistance of pathogenic bacteria is currently one of the major problems in medicine, and finding novel antibacterial agents is one of the most difficult tasks in the field of biomedical sciences. Studies on such tasks can be successful only if genetic and molecular mechanisms leading to antibiotic resistance/sensitivity are understood. Previous reports indicated that the bacterial protein Hfq, discovered as an RNA chaperone but subsequently demonstrated to play also other functions in cells, is involved in the mechanisms of the response of bacterial cells to antibiotics. Recently, it was found that Hfq dysfunction resulted in more effective accumulation of an antibiotic ciprofloxacin in Escherichia coli cells irrespective of the presence or absence of the AcrB efflux pump. However, small RNA-mediated impairment of expression of the ompF gene, which encodes a porin involved in antibiotics influx, reversed the effects of the absence of Hfq on the antibiotic accumulation. This led to the hypothesis that Hfq might influence ciprofloxacin accumulation in the manner independent on its RNA chaperone function, as this protein might also influence cellular membrane structure and functions. Here, we demonstrate that in ompC and ompF mutants of E. coli, accumulation of ciprofloxacin is significantly impaired in the absence of Hfq or its C-terminal domain. These results corroborate the above-mentioned hypothesis on a sRNA-independent mechanism of Hfq-mediated modulation of the antibiotic transmembrane transport. Since fluoroquinolones use both protein- and lipid-mediated pathways to cross the outer membrane, Hfq may influence both processes. This possibility will be discussed herein.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":"449-457"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143370604","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High amylopectin in waxy maize synergistically affects seed germination and seedling vigour over traditional maize genotypes.","authors":"Zahirul A Talukder, Rashmi Chhabra, Sudipta Basu, Nisrita Gain, Subhra J Mishra, Ashwani Kumar, Rajkumar U Zunjare, Vignesh Muthusamy, Firoz Hossain","doi":"10.1007/s13353-024-00877-w","DOIUrl":"10.1007/s13353-024-00877-w","url":null,"abstract":"<p><p>Waxy maize grains rich in amylopectin have emerged as a popular food and industrial raw materials. Here, a set of waxy inbreds having recessive waxy1 (wx1) gene derived through marker-assisted selection (MAS), and their original versions were evaluated for germination, seed vigour index-I and vigour index-II, electrical conductivity (EC) and enzymatic activities viz., dehydrogenase (DH), esterase (EST), peroxidase (POX), superoxide dismutase (SOD) and α-amylase (AMY). Waxy inbreds under study possessed average 97.8% amylopectin compared to 72.4% in original inbreds. Waxy versions showed 15.2% more test weight, 4.3% increase in germination, 22.7% higher seed vigour index-I and 28.3% higher seed vigour index-II, respectively, over the original inbreds. Further, activity of DH, EST, POX, SOD and AMY of MAS-derived waxy inbreds was more than that of original inbreds, whereas EC was less in improved inbreds compared to originals. Amylopectin exhibited strong positive correlations (r = 0.69 to 0.97**) with seed germination, vigour index-I and -II, DH, SOD, POX, EST and AMY activity. However, amylopectin showed negative correlation of - 0.82** with EC. Seed germination and seed vigour indices were also positively correlated with all enzymatic activities (r = 0.58 to 0.92**). The analysis revealed that waxy inbreds possess better seed vigour and enzymatic activities over traditional inbreds. This is the first report of synergistic effects of wx1 gene on seed germination, vigour and enzymatic activities in maize endosperm.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":"267-278"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141075220","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of trait-associated microRNA modules in liver transcriptome of pig fed with PUFAs-enriched supplementary diet.","authors":"C S Pareek, M Sachajko, G Kalra, S Sultana, A Szostak, K Chalaskiewicz, K Kepka-Borkowska, E Poławska, M Ogłuszka, D Pierzchała, R Starzyński, H Taniguchi, E Juszczuk-Kubiak, A Lepczyński, B Ślaska, W Kozera, U Czarnik, P Wysocki, H N Kadarmideen, M F W Te Pas, J Szyda, M Pierzchała","doi":"10.1007/s13353-024-00912-w","DOIUrl":"10.1007/s13353-024-00912-w","url":null,"abstract":"<p><p>Dietary lipids provide energy, are cellular structural components, and are involved in physiological processes. Lipids are the dietary source in supplementary diet experiments in pigs. This study aims to investigate the dietary effects of PUFAs on the hepatic transcriptome and physiological pathways of two diets on two pig breeds. Polish Landrace (PL: n = 6) and six PLxDuroc (PLxD: n = 6) pigs were fed with a normal diet (n = 3) or PUFAs-enriched healthy diet (n = 3), and the hepatic miRNA profiles were studied for weighted gene co-expression network analysis biological interactions between gene networks and metabolic pathways of DE miRNA genes. The study identified trait-associated modules that were significantly associated with four phenotypic traits in the dietary groups of PL and PLxD: meat colour (a*), shoulder subcutaneous fat thickness, conductivity 24 h post-mortem (PE24), and ashes. Trait-wise, a large set of co-expressed miRNAs of porcine liver were identified in these trait-associated significant modules (9, 7, 2, and 8) in PL and PLxD. Each module is represented by a module eigengene (ME). Forty-four miRNAs out of 94 miRNAs interacted with 6719 statistically significant target genes with a target score > 90. The GO/pathway analysis showed association with pathways including regulation of metallopeptidase activity, sebaceous gland development, collagen fibril organization, WNT signalling, epithelial tube morphogenesis, etc. The study showed the differences in miRNA expression between the dietary groups of PL and PLxD breeds. Hub genes of discovered miRNA clusters can be considered predicted miRNA genes associated with PE24, meat colour, shoulder subcutaneous fat thickness, and ashes. Discovered target genes for miRNA clusters play significant roles in biological functions such as (i) muscle and body growth development, (ii) different cellular processes and developments, (iii) system development, and (iv) metabolic processes.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":"389-407"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12000271/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142638815","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}