Frontiers in Genetics最新文献

{"title":"Detection of a novel large fragment deletion in the alpha-globin gene cluster using the CNVplex technology.","authors":"Jianfei Xu, Liang Hu, Lijuan Wen, Xianzhen Cao, Hongyan Xu, Qi Luo, Yuhong Long, Tingyu Ji, Lifang Sun, Fengxiang Wei","doi":"10.3389/fgene.2025.1518392","DOIUrl":"10.3389/fgene.2025.1518392","url":null,"abstract":"<p><strong>Objective: </strong>To describe the characterization of a novel deletion causing α-thalassemia.</p><p><strong>Methods: </strong>The proband was a 4-year-old boy who presented with abnormal hematological parameters identified during routine blood investigation conducted for a cold. Three common α-globin gene deletions, three mutations, and 17 mutations in the β-globin gene were detected using PCR-flow fluorescence hybridization. Next-generation sequencing (NGS) and CNVplex technologies were employed to identify potential rare pathogenic mutation types. The CNVplex technology leverages variations in the lengths of linkage sequences of differential sequences at the same locus to produce linkage products of varying lengths, thereby enabling the detection of multiple loci within the same system. The newly identified deletions were further validated using customized third-generation sequencing (TGS) and Sanger sequencing.</p><p><strong>Conclusion: </strong>In this study, hematological analysis indicated a potential diagnosis of thalassemia in the proband, characterized by typical microcytic hypodermic features. A novel 134-kb deletion in the α-globin gene cluster was identified in this proband using the CNVplex technology. This deletion encompasses the genes <i>HBZ</i>, <i>HBM</i>, <i>HBA2</i>, <i>HBA1</i>, and <i>HBQ1</i>. Furthermore, we confirmed the gene deletion through customized TGS testing and Sanger sequencing, allowing us to determine the size of the deletion. The results suggest that this represents a new deletion of 146 kb that has not been previously reported, and we hypothesize that this deletion is likely the primary cause of the α-thalassemia trait observed in the proband.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1518392"},"PeriodicalIF":2.8,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11931057/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143700359","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":"Case Report: Area of focus clinical presentation and KMT2D gene mutation at the c.15535C>T site in a case of Kabuki syndrome.","authors":"Wen Li, Mengjie Lin, Jinwei Dao, Li Shi, Wei Yi, Jia Lei, Yaxian Song, Jiaolou Dong, Meiwei Zhao, Yushan Xu, Lulu Chen","doi":"10.3389/fgene.2025.1523228","DOIUrl":"10.3389/fgene.2025.1523228","url":null,"abstract":"<p><strong>Background: </strong>Kabuki syndrome (KS) is a rare autosomal dominant genetic disorder. The full understanding of KS remains elusive due to the heterogeneity of gene mutations, clinical phenotypes, and the associations and mechanisms linking genotypes to phenotypes. This study reports on a 16-year-old male patient diagnosed with type I Kabuki syndrome following the identification of a <i>de novo</i> mutation, c.15535C>T (p.Arg5179Cys), in the <i>KMT2D</i> gene.</p><p><strong>Case report: </strong>A 16-year-old male presented with bilateral breast enlargement persisting for over 1 month. Historically, the patient exhibited intellectual disability. Both parents are healthy with no similar family history. The patient's father had a history of heroin use for 8 years prior to the patient's birth. On examination, the patient had unclear speech and slow speech rate, with diminished reading comprehension and calculation abilities. Characteristic facial features of KS were noted. Breast development was observed (Tanner stage II on the right and III on the left), with pain upon deep palpation of the left nipple. Molecular genetic testing identified a heterozygous missense mutation, c.15535C>T (p.Arg5179Cys), in the<i>KMT2D</i>gene, confirming the diagnosis of type I Kabuki syndrome.</p><p><strong>Discussion: </strong>KS is characterized by distinctive facial features: arched eyebrows, eversion of the eyelids, long palpebral fissures, a short nasal septum, a flat nasal tip, auricular deformities, a small mandible, a high palatal arch, or cleft palate. The patient exhibited a heterozygous missense mutation in the coding region of the <i>KMT2D</i> gene, identified as a <i>de novo</i> mutation. Currently, KS management primarily involves symptomatic and rehabilitative therapies.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1523228"},"PeriodicalIF":2.8,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11926138/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143691949","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":"<i>Tetrahymena thermophila</i> glutathione-S-transferase superfamily: an eco-paralogs gene network differentially responding to various environmental abiotic stressors and an update on this gene family in ciliates.","authors":"Ruth Ortega, Ana Martin-González, Juan-Carlos Gutiérrez","doi":"10.3389/fgene.2025.1538168","DOIUrl":"10.3389/fgene.2025.1538168","url":null,"abstract":"<p><p>Glutathione S-transferases constitute a superfamily of enzymes involved mainly, but not exclusively, in the detoxification of xenobiotic compounds that are considered environmental pollutants. In this work, an updated analysis of putative cytosolic glutathione S-transferases (cGST) from ciliate protozoa is performed although this analysis is mainly focused on <i>Tetrahymena thermophila</i>. Among ciliates, the genus <i>Tetrahymena</i> has the highest number (58 on average) of cGST genes. As in mammals, the Mu class of cGST is present in all analyzed ciliates and is the majority class in <i>Tetrahymena</i> species. After an analysis of the occurrence of GST domains in <i>T. thermophila</i>, out of the 54 GSTs previously considered to be Mu class, six of them have been discarded as they do not have recognizable GST domains. In addition, there is one GST species-specific and another GST-EF1G (elongation factor 1 gamma). A structural analysis of <i>T. thermophila</i> GSTs has shown a wide variety of β-sheets/α-helix patterns, one of the most abundant being the canonical thioredoxin-folding pattern. Within the categories of bZIP and C4 zinc finger transcription factors, potential binding sites for c-Jun and c-Fos are abundant (32% as average), along with GATA-1 (71% average) in the <i>T. thermophila</i> GST gene promoters. The alignment of all MAPEG (Membrane Associated Proteins involved in Eicosanoid and Glutathione metabolism) GST protein sequences from <i>Tetrahymena</i> species shows that this family is divided into two well-defined clans. The phylogenetic analysis of <i>T. thermophila</i> GSTs has shown that a cluster of 19 Mu-class GST genes are phylogenetic predecessors of members from the omega, theta and zeta classes. This means that the current GST phylogenetic model needs to be modified. Sixteen <i>T. thermophila</i> GST genes, together with two clusters including three genes each with very high identity, have been selected for qRT-PCR analysis under stress from eleven different environmental stressors. This analysis has revealed that there are GST genes that respond selectively and/or differentially to each stressor, independently of the GST class to which it belongs. Most of them respond to the two more toxic metal(loid)s used (Cd or As).</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1538168"},"PeriodicalIF":2.8,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11925944/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143692036","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":"Case report: Severe arrhythmogenic cardiomyopathy in a young girl with compound heterozygous <i>DSG2</i> and <i>MYBPC3</i> variants with a 6-year follow-up.","authors":"Ryotaro Hashizume, Hiroshi Imai, Hiroyuki Ohashi, Hirofumi Sawada, Noriko Yodoya, Ryuji Okamoto, Kaoru Dohi, Chika Kasai, Takahito Kitajima, Takumi Fujiwara, Ikuyo Mochiki, Kaname Nakatani, Sachiko Wakita, Seiko Ohno, Koichi Kato, Yoshinaga Okugawa, Yoshihide Mitani, Masahiro Hirayama","doi":"10.3389/fgene.2025.1545561","DOIUrl":"10.3389/fgene.2025.1545561","url":null,"abstract":"<p><strong>Introduction: </strong>Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac disorder characterized by progressive fibrofatty replacement of the myocardium. In the Japanese population, variants of the desmoglein-2 (<i>DSG2</i>) gene are a major cause of ACM, typically following an autosomal recessive inheritance pattern. Myosin-binding protein C (<i>MYBPC3</i>) variants are primarily associated with hypertrophic cardiomyopathy (HCM). Here, we report a severe pediatric case of ACM associated with compound heterozygous <i>DSG2</i> and <i>MYBPC3</i> variants.</p><p><strong>Case presentation: </strong>A 6-year-old asymptomatic girl was diagnosed with ACM based on abnormal electrocardiogram findings, including epsilon waves, and T-wave inversions in leads V_1-6 and III. Echocardiography revealed right ventricular (RV) dilatation (RV outflow tract diameter/body surface area: 22.9 mm/m²) and reduced RV function (fractional area change: 18.0%). Cardiac magnetic resonance imaging confirmed RV dysfunction (ejection fraction [EF]: 9.7%) and left ventricular (LV) involvement (EF: 48.9%). Genetic testing identified compound heterozygous <i>DSG2</i> variants (p.Arg119* and p. Arg292Cys) and an <i>MYBPC3</i> variant (p.Arg820Gln). The patient remained asymptomatic until age 10.5 years, when she developed heart failure requiring hospitalization. Imaging revealed severe biventricular dilatation (LV end-diastolic volume index: 149.5 mL/m²; RV end-diastolic volume index: 255.9 mL/m²) and biventricular dysfunction (LVEF: 9.5%; RVEF: 9.7%). Despite medical management, the patient's condition progressively worsened, and she was deemed eligible for heart transplantation.</p><p><strong>Discussion: </strong>This case illustrates the potential for severe pediatric ACM associated with compound heterozygous <i>DSG2</i> variants and a <i>MYBPC3</i> variant. The <i>DSG2</i> variants likely played a primary role disease pathogenesis, while the <i>MYBPC3</i> variant may have exacerbated the phenotype. The coexistence of desmosomal and sarcomeric gene variants is rare in cardiomyopathies, making genotype-phenotype correlations complex. Further research is needed to elucidate the interplay between these genetic factors.</p><p><strong>Conclusion: </strong>This case underscores the genetic heterogeneity and phenotypic variability in inherited cardiomyopathies. It emphasizes the importance of comprehensive genetic testing and close monitoring of affected individuals and their families.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1545561"},"PeriodicalIF":2.8,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11922858/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143669738","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":"Case report: Clinicopathological characteristics of <i>SASH1</i> mutation-related dyschromatosis: a rethinking of the classification of dyschromatosis.","authors":"Tingmei Wang, Dong Li, Yunhua Deng","doi":"10.3389/fgene.2025.1414129","DOIUrl":"10.3389/fgene.2025.1414129","url":null,"abstract":"<p><p>Dyschromatosis, a group of pigmentary dermatoses, accompany both hyper- and hypo-pigmentation, including dyschromatosis symmetrica hereditaria (DSH), dyschromatosis universalis hereditaria (DUH), and familial progressive hyper- and hypo-pigmentation (FPHH). A peculiar phenotype of dyschromatosis presented as multiple lentigines and hypopigmentation with various sizes and shapes was found to be associated with <i>SASH1</i> mutations and has recently been reported frequently. The current study evaluated the clinical manifestation, pathological pattern, and genetic basis of dyschromatosis in a five-generation family. This research also presents a case study of a sporadic patient with dyschromatosis caused by <i>SASH1</i> mutations and shows different clinicopathological characteristics form DSH, DUH and FPHH. SASH1 (SAM and SH3 Domain Containing 1) gene, located on chromosome 6q24.3, encodes a tumor suppressor protein involved in cell signaling, migration, and adhesion. Additionally, the <i>SASH1</i> mutations could also lead to another pigmentary phenotype: multiple lentigines. High consistency in clinicopathological features and genetic basis in these two <i>SASH1</i>-related pigmentary disorders suggests that <i>SASH1</i> mutations cause multiple lentigines and dyschromatosis which might belong to a disease spectrum. Overall, it is expected the current study results could help enhance a more comprehensive understanding of <i>SASH1</i>-related pigmentary dermatoses.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1414129"},"PeriodicalIF":2.8,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11922891/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143669737","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":"Association between single nucleotide polymorphisms in <i>EPAS1</i> and <i>PPARA</i> genes and high altitude polycythemia in Chinese Tibetan population.","authors":"Ziyi Chen, Zhaomei Dong, Rong Zeng, Mengna Xu, Yuanyuan Zhang, Qu Dan, Guangming Wang","doi":"10.3389/fgene.2025.1519108","DOIUrl":"10.3389/fgene.2025.1519108","url":null,"abstract":"<p><strong>Background: </strong>High altitude polycythemia (HAPC) is a disease with high morbidity and great harm in high altitude populations. It has been shown that Single Nucleotide Polymorphisms (SNPs) correlate with the genetic basis of adaptation to plateau hypoxia in Tibetan populations. The <i>EPAS1</i> and <i>PPARA</i> genes are involved in hypoxia adaptation by encoding transcription factors in Tibetan populations at high altitude. The aim of this study was to investigate the association of <i>EPAS1</i> and <i>PPARA</i> gene locus polymorphisms with genetic susceptibility to HAPC in the Chinese Tibetan population.</p><p><strong>Methods: </strong>We included 78 HAPC patients and 84 healthy controls, and genotyped the <i>EPAS1</i> gene SNP loci (rs6735530, rs6756667, rs7583392, and rs12467821) and <i>PPARA</i> rs6520015 by using TaqMan polymerase chain reaction. Logistic regression was used to analyze the association between these SNPs and HAPC; interactions between SNPs were also predicted by multifactorial dimensionality reduction (MDR) analysis.</p><p><strong>Results: </strong>We found that the <i>PPARA</i> rs6520015 polymorphism was not associated with the risk of HAPC in the Chinese Tibetan population; <i>EPAS1</i> rs6735530, rs6756667, rs7583392, and rs12467821 increased the risk of HAPC in some models. Haplotype TCAGC decreases the risk of HAPC; Haplotype TTGAT increases the risk of HAPC; and <i>EPAS1</i> rs7583392 is in complete linkage disequilibrium with rs12467821. The best prediction model was the <i>EPAS1</i> rs6756667 unit point model, but the P value was greater than 0.05 in all three models, which was not statistically significant.</p><p><strong>Conclusion: </strong>The present findings suggest that among the Tibetan population in China, There is an association between <i>EPAS1</i> rs6735530, rs6756667, rs7583392, and rs12467821 and the risk of HAPC, and that there is no significant correlation between <i>PPARA</i> rs6520015 and the risk of HAPC.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1519108"},"PeriodicalIF":2.8,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11922876/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143669699","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":"The relationship of miR-155 host gene polymorphism in the susceptibility of cancer: a systematic review and meta-analysis.","authors":"Gang Jin, Tao Guo, Jia-Wei Liu, Han-Yu Yang, Jian-Guo Xu, Yao Pang, Yi Yang, Shao-E He, Kang Yi","doi":"10.3389/fgene.2025.1517513","DOIUrl":"10.3389/fgene.2025.1517513","url":null,"abstract":"<p><strong>Background: </strong>miR-155 is overexpressed in many cancers, highlighting its potential as a biomarker for cancer diagnosis, treatment, and therapeutic evaluation. miR-155 is processed from the miR-155 host gene (<i>MIR155HG</i>). Genetic variations in <i>MIR155HG</i> may influence cancer susceptibility, but existing evidence is inconclusive. This study aimed to evaluate the association of <i>MIR155HG</i> polymorphisms with cancer risk.</p><p><strong>Material/methods: </strong>A systematic literature search identified 15 case-control studies on three single nucleotide polymorphisms (SNPs): rs767649 (T > A), rs928883 (G > A), and rs1893650 (T > C). Meta-analysis was performed using RevMan 5.4, with odds ratios (ORs) and 95% confidence intervals (CIs) as effect measures.</p><p><strong>Results: </strong>No significant association was observed for rs767649 and rs928883 in overall cancer analysis. However, subgroup analysis revealed rs767649 increased susceptibility to respiratory, digestive, and reproductive cancers, while reducing cancer risk after excluding reproductive cancers. rs928883 showed a protective effect for digestive cancers. rs1893650 was not significantly associated with cancer risk.</p><p><strong>Conclusion: </strong><i>MIR155HG</i> polymorphisms influence susceptibility to specific cancer subtypes, particularly respiratory and digestive cancers. These findings underscore the importance of genetic and environmental factors in cancer risk and warrant further investigation.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1517513"},"PeriodicalIF":2.8,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11922843/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143669742","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":"Chromosome 1 variants associated with decreased HIV set-point viral load correlate with PRKAB2 expression changes.","authors":"Riley H Tough, Paul J McLaren","doi":"10.3389/fgene.2025.1551171","DOIUrl":"10.3389/fgene.2025.1551171","url":null,"abstract":"<p><p>A previous study investigated a genomic region on chromosome 1 associated with reduced human immunodeficiency virus type 1 (HIV) set-point viral load, implicating <i>CHD1L</i> as a novel HIV inhibitory factor. However, given that regulatory variants can influence expression of multiple nearby genes, further work is necessary to determine the impact of genetic variants on other genes in the region. This study evaluates the potential for genetic regulation of <i>PRKAB2</i>, a gene located upstream of <i>CHD1L</i> and encoding the β2 regulatory subunit of the AMPK complex, and for downstream impacts on HIV pathogenesis. Using genotype and gene expression data from the Gene Expression Omnibus repository and Genotype-Tissue Expression database, we observed cell-type-specific correlations between <i>CHD1L</i> and <i>PRKAB2</i> expression, with a strong positive association in whole blood and negative correlation in monocytes. Notably, we found that individuals with HIV set-point viral load associated variants exhibited significantly reduced <i>PRKAB2</i> expression in imputed whole blood models and <i>ex vivo</i> monocytes. Functional analyses using <i>PRKAB2</i> ^-/- induced pluripotent stem cells suggest that <i>PRKAB2</i> loss-of-function may influence <i>CHD1L</i> expression, and genes regulating cytokine activity, growth factor signaling, and pluripotency pathways associated with HIV infection. These results suggest that gene expression changes driven by HIV set-point viral load associated variants in the chromosome 1 impact multiple genes and, by influencing expression of <i>PRKAB2</i>, may result in altered expression of critical immune signaling processes. These findings advance our understanding of the contribution of host genetics on HIV pathogenesis and identifies new targets for <i>ex vivo</i> functional studies.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1551171"},"PeriodicalIF":2.8,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11922826/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143669739","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":"Corrigendum: Omics multi-layers networks provide novel mechanistic and functional insights into fat storage and lipid metabolism in poultry.","authors":"Farzad Ghafouri, Abolfazl Bahrami, Mostafa Sadeghi, Seyed Reza Miraei-Ashtiani, Maryam Bakherad, Herman W Barkema, Samantha Larose","doi":"10.3389/fgene.2025.1572670","DOIUrl":"10.3389/fgene.2025.1572670","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.3389/fgene.2021.646297.].</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1572670"},"PeriodicalIF":2.8,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11922946/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143669741","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":"Differential responses of the intestine and liver transcriptome to high levels of plant proteins in diets for large yellow croaker (<i>Larimichthys crocea</i>).","authors":"Qiaozhen Ke, Yin Li, Huasong Weng, Baohua Chen, Jiaying Wang, Ji Zhao, Pengxin Jiang, Peng Xu, Tao Zhou","doi":"10.3389/fgene.2025.1540305","DOIUrl":"10.3389/fgene.2025.1540305","url":null,"abstract":"<p><p>Large yellow croaker is an economically important carnivorous marine aquaculture fish in China with high protein requirements. Current fish meal - based feeds face issues like high cost and resource depletion, while plant protein sources have potential but also controversies. To explore this, a 120 - day feeding trial was conducted with a standard commercial feed (CF) and a modified feed (PF) where 70% of fish meal was replaced by plant protein. Results showed no significant growth performance differences between the two groups. Transcriptome analysis identified 557 and 308 differentially expressed genes in the liver and intestine respectively. GO and KEGG enrichment analyses indicated their association with immune response, lipid metabolism, and signal transduction. Five key genes related to metabolism and immune regulation were also found. These findings underscore the potential of integrating plant protein into fish diets, which could significantly enhance sustainable practices in global aquaculture while reducing reliance on fish meal. Emphasizing this transition is crucial for fostering environmental sustainability and supporting the future of aquaculture.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1540305"},"PeriodicalIF":2.8,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11919891/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143663222","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}