Molecular Genetics and Genomics最新文献

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Molecular mapping and transfer of sheath blight resistance QTLs from PAU-shb8  to cultivated rice PR-121.
IF 2.3 3区 生物学
Molecular Genetics and Genomics Pub Date : 2025-02-19 DOI: 10.1007/s00438-024-02220-8
Sheezana Rasool, Ankita Babbar, Saundarya Kumari, Safoora Javed, Jagjeet Singh Lore, Rupinder Kaur, Navjot Sidhu, Yogesh Vikal, Kuldeep Singh, Kumari Neelam
{"title":"Molecular mapping and transfer of sheath blight resistance QTLs from PAU-shb8  to cultivated rice PR-121.","authors":"Sheezana Rasool, Ankita Babbar, Saundarya Kumari, Safoora Javed, Jagjeet Singh Lore, Rupinder Kaur, Navjot Sidhu, Yogesh Vikal, Kuldeep Singh, Kumari Neelam","doi":"10.1007/s00438-024-02220-8","DOIUrl":"https://doi.org/10.1007/s00438-024-02220-8","url":null,"abstract":"<p><p>Sheath blight, caused by Rhizoctonia solani, severely affects rice, causing 20-69% yield losses in tropical and temperate regions. Key challenges include the pathogen's broad host range, persistent sclerotia, climate change, and the reliance on semi-dwarf varieties. The disease's complex inheritance and lack of highly resistant cultivars hinder management, making resistant variety breeding a sustainable solution. This study mapped sheath blight resistance Quantitative trait locus (QTLs) from PAU-shb8, a moderately resistant rice line. This line exhibited moderate resistance with a disease score of 3 (RLH < 20%), whereas susceptible rice cultivar PR121 scored 9 (RLH > 60%). Screening of 1160 plants from BC<sub>1</sub>F<sub>5</sub> and BC<sub>1</sub>F<sub>6</sub> populations revealed 50.34% as moderately resistant, 37.76% moderately susceptible, and 11.88% susceptible. (QTL) mapping using 4622 SNP markers identified 20 QTLs across eight traits, with significant loci on chromosomes 2, 4, 6, 8, 9, 10, 11, and 12. Chromosome 12 harbored a cluster of QTLs associated with multiple traits, including RLH, lesion height, and disease score, while chromosome 8 exhibited a major QTL for RLH with a LOD score of 9.8 and 9.2% phenotypic variance. Genomic analysis pinpointed candidate genes related to resistance, such as leucine-rich repeat proteins and calcium/calmodulin-dependent protein kinases. Promising genotypes 7168, 7183, and 7152 demonstrated moderate resistance, combining key QTLs for RLH, disease severity, and lesion height with favorable agronomic traits. These backcross inbred lines are pivotal for breeding sheath blight-resistant rice varieties and for the expansion of resistance gene pool of sheath blight.</p>","PeriodicalId":18816,"journal":{"name":"Molecular Genetics and Genomics","volume":"300 1","pages":"21"},"PeriodicalIF":2.3,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143449731","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}
引用次数: 0
Pangenome analysis of Bacillus velezensis exploring the probiotic potential and plant growth promotion traits of strains isolated from fish intestines.
IF 2.3 3区 生物学
Molecular Genetics and Genomics Pub Date : 2025-02-18 DOI: 10.1007/s00438-025-02230-0
Evelise Bach, Ana Carolina Ritter, Rafaela Diogo Silveira, Mariah Ávila de Souza, Luciane Maria Pereira Passaglia, Juliane Elisa Welke, Adriano Brandelli
{"title":"Pangenome analysis of Bacillus velezensis exploring the probiotic potential and plant growth promotion traits of strains isolated from fish intestines.","authors":"Evelise Bach, Ana Carolina Ritter, Rafaela Diogo Silveira, Mariah Ávila de Souza, Luciane Maria Pereira Passaglia, Juliane Elisa Welke, Adriano Brandelli","doi":"10.1007/s00438-025-02230-0","DOIUrl":"https://doi.org/10.1007/s00438-025-02230-0","url":null,"abstract":"<p><p>New Bacillus velezensis strains with impressive antimicrobial activities are being continuously described. Here we performed genomic comparisons of five B. velezensis strains isolated from Amazonian fish intestines with other 266 genomes from the RefSeq database through a pangenome approach. We aimed to analyze the commonalities and specificities of each strain within this clade to explore their potential as probiotics and for promoting plant growth (PGP). High-quality draft genome sequences were obtained for strains P7 and P11, with genome metrics confirming their identification as B. velezensis. The evaluation of 271 B. velezensis genome sequences revealed an open pangenome composed of 14,918 homologs, while 16% of them represented the core genome. Therefore, the majority of genes belonged to the accessory variable genome, with many strains harboring numerous unique genes, including the Amazonian strain P45. This strain also stood out as carrying the potential to produce many hydrolytic enzymes and PGP traits. Genome mining of all five Amazonian strains annotated secondary metabolites with unknown identifications. The evaluated probiotic genes are mostly conserved in all B. velezensis strains. Moreover, the investigation of the mobilome, resistome, and virulence factors showed that these strains can be considered safe for probiotic and agricultural applications, corroborating our previous studies. This data will be useful to improve our understanding and biotechnological exploration of these strains and other B. velezensis as well.</p>","PeriodicalId":18816,"journal":{"name":"Molecular Genetics and Genomics","volume":"300 1","pages":"20"},"PeriodicalIF":2.3,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143449732","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}
引用次数: 0
A relative-independent haplotype derivation method applied for noninvasive prenatal testing for chromosomal rearrangements in a pregnant carrier.
IF 2.3 3区 生物学
Molecular Genetics and Genomics Pub Date : 2025-02-10 DOI: 10.1007/s00438-025-02225-x
Mengyang Du, Xi Yang, Ruixiu Zhang, Na Yu, Liying Peng, Jiawen Lin, Xue Yan, Yiming Wu, Shihua Bao
{"title":"A relative-independent haplotype derivation method applied for noninvasive prenatal testing for chromosomal rearrangements in a pregnant carrier.","authors":"Mengyang Du, Xi Yang, Ruixiu Zhang, Na Yu, Liying Peng, Jiawen Lin, Xue Yan, Yiming Wu, Shihua Bao","doi":"10.1007/s00438-025-02225-x","DOIUrl":"10.1007/s00438-025-02225-x","url":null,"abstract":"<p><p>This study aimed to perform noninvasive prenatal testing for structural chromosomal rearrangements (NIPT-SR) for a female pregnant proband carrying a t(4;8) balanced translocation, whose husband exhibited a normal karyotype. NIPT-SR could accurately detect transmission status of structural rearrangements in fetus through Hidden Markov Model (HMM) analysis, which requires the construction of parental haplotypes. To address the challenge of lacking genetic information from other family members of this proband, we developed a novel strategy to infer the fetal inheritance of structural variants by integrating Oxford Nanopore Technologies (ONT) with the NIPT-SR approach. Long-read sequencing was performed on the proband to directly detect the translocation and nearby single nucleotide polymorphisms (SNPs), and to link the structural variants with phased haplotypes. NIPT-SR method was used to infer the fetal inheritance of the constructed haplotypes and to evaluate the potential presence of unbalanced translocation in the fetus. Noninvasive prenatal testing (NIPT) was performed at 12 weeks of gestation, followed by copy number variation sequencing (CNV-seq) and karyotype analysis after birth respectively to confirm the accuracy of NIPT-SR results. Using nanopore sequencing, we identified the precise locations of the breakpoint junctions and successfully established the SNP-based haplotypes that were linked to the breakpoints on chr4 and chr8, without the need for retrieving genetic information of other family members. Haplotype-based analysis of cell-free DNA (cfDNA) indicated that the fetus inherited the normal haplotypes, which was consistent with the NIPT results and confirmed by the postnatal CNV-seq and karyotype analysis. In conclusion, the NIPT-SR method coupled with ONT platform could be used to perform NIPT-SR for those who carries balanced translocation circumventing the need for other family members as reference, providing an important supplement to birth defects prevention.</p>","PeriodicalId":18816,"journal":{"name":"Molecular Genetics and Genomics","volume":"300 1","pages":"19"},"PeriodicalIF":2.3,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143382808","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}
引用次数: 0
A comprehensive analysis of stroke risk factors and development of a predictive model using machine learning approaches.
IF 2.3 3区 生物学
Molecular Genetics and Genomics Pub Date : 2025-01-24 DOI: 10.1007/s00438-024-02217-3
Songquan Xie, Shuting Peng, Long Zhao, Binbin Yang, Yukun Qu, Xiaoping Tang
{"title":"A comprehensive analysis of stroke risk factors and development of a predictive model using machine learning approaches.","authors":"Songquan Xie, Shuting Peng, Long Zhao, Binbin Yang, Yukun Qu, Xiaoping Tang","doi":"10.1007/s00438-024-02217-3","DOIUrl":"10.1007/s00438-024-02217-3","url":null,"abstract":"<p><p>Stroke is a leading cause of death and disability globally, particularly in China. Identifying risk factors for stroke at an early stage is critical to improving patient outcomes and reducing the overall disease burden. However, the complexity of stroke risk factors requires advanced approaches for accurate prediction. The objective of this study is to identify key risk factors for stroke and develop a predictive model using machine learning techniques to enhance early detection and improve clinical decision-making. Data from the China Health and Retirement Longitudinal Study (2011-2020) were analyzed, classifying participants based on baseline characteristics. We evaluated correlations among 12 chronic diseases and applied machine learning algorithms to identify stroke-associated parameters. A dose-response relationship between these parameters and stroke was assessed using restricted cubic splines with Cox proportional hazards models. A refined predictive model, incorporating age, sex, and key risk factors, was developed. Stroke patients were significantly older (average age 69.03 years) and had a higher proportion of women (53%) compared to non-stroke individuals. Additionally, stroke patients were more likely to reside in rural areas, be unmarried, smoke, and suffer from various diseases. While the 12 chronic diseases were correlated (p < 0.05), the correlation coefficients were generally weak (r < 0.5). Machine learning identified nine parameters significantly associated with stroke risk: TyG-WC, WHtR, TyG-BMI, TyG, TMO, CysC, CREA, SBP, and HDL-C. Of these, TyG-WC, WHtR, TyG-BMI, TyG, CysC, CREA, and SBP exhibited a positive dose-response relationship with stroke risk. In contrast, TMO and HDL-C were associated with reduced stroke risk. In the fully adjusted model, elevated CysC (HR = 2.606, 95% CI 1.869-3.635), CREA (HR = 1.819, 95% CI 1.240-2.668), and SBP (HR = 1.008, 95% CI 1.003-1.012) were significantly associated with increased stroke risk, while higher HDL-C (HR = 0.989, 95% CI 0.984-0.995) and TMO (HR = 0.99995, 95% CI 0.99994-0.99997) were protective. A nomogram model incorporating age, sex, and the identified parameters demonstrated superior predictive accuracy, with a significantly higher Harrell's C-index compared to individual predictors. This study identifies several significant stroke risk factors and presents a predictive model that can enhance early detection of high-risk individuals. Among them, CREA, CysC, SBP, TyG-BMI, TyG, TyG-WC, and WHtR were positively associated with stroke risk, whereas TMO and HDL-C were opposite. This serves as a valuable decision-support resource for clinicians, facilitating more effective prevention and treatment strategies, ultimately improving patient outcomes.</p>","PeriodicalId":18816,"journal":{"name":"Molecular Genetics and Genomics","volume":"300 1","pages":"18"},"PeriodicalIF":2.3,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11762205/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143033711","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}
引用次数: 0
Genetic insights into CRP levels in Indian adolescents: confirming adult genetic associations.
IF 2.3 3区 生物学
Molecular Genetics and Genomics Pub Date : 2025-01-23 DOI: 10.1007/s00438-024-02213-7
Janaki M Nair, Khushdeep Bandesh, Anil K Giri, Shraddha Chakraborty, Raman K Marwaha, Analabha Basu, Nikhil Tandon, Dwaipayan Bharadwaj
{"title":"Genetic insights into CRP levels in Indian adolescents: confirming adult genetic associations.","authors":"Janaki M Nair, Khushdeep Bandesh, Anil K Giri, Shraddha Chakraborty, Raman K Marwaha, Analabha Basu, Nikhil Tandon, Dwaipayan Bharadwaj","doi":"10.1007/s00438-024-02213-7","DOIUrl":"https://doi.org/10.1007/s00438-024-02213-7","url":null,"abstract":"<p><p>CRP is a biomarker of acute inflammation linked to metabolic complications. Given the rising prevalence of these conditions in India, we investigated the genetic basis of CRP levels in Indian adolescents, an underrepresented group in genetic studies, to identify early markers of metabolic risk. We performed a two-phased genome-wide association study (GWAS; N = 5052) and an independent Exome-wide association study (ExWAS; N = 4547), to identify both common and rare genetic variants associated with CRP levels. The study identified intergenic variants near CRP and CRPP1 genes, and APOC1 gene as the key regulators of CRP levels establishing the universality of these associations. The GWAS identified the variant rs4247360 (PITPNC1) to be associated at a suggestive significance. The ExWAS single variant association identified novel associations in genes FGL1 (rs35431851), C19orf45 (rs608144, rs475923, rs484870), TRAPPC12 (rs11686212) and KIAA0087 (rs17153822). The SKATO analysis of the rare variants highlighted the role of loss of function and missense variants in genes EPS15, CCDC15, ZNF286A, ELF1, B3GNT8, ZNF850, MAP2, and PSG2. The GWAS and ExWAS in the present study validated the association of 56 variants previously reported for CRP levels. The meta-analysis with the CRP GWAS earlier reported in Indian adults revealed the shared genetic architecture of CRP levels across age groups. The gene-set enrichment analysis highlighted the role of CRP-associated genes in inflammatory and cardiometabolic pathways. The study enhances understanding of genetic predispositions to inflammation and metabolic disorders confirming known associations, identifying novel loci, and validating shared genetic architecture across age-groups, guiding targeted prevention for at-risk youth.</p>","PeriodicalId":18816,"journal":{"name":"Molecular Genetics and Genomics","volume":"300 1","pages":"17"},"PeriodicalIF":2.3,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143059753","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}
引用次数: 0
Phenotypic simulation for fruit-related traits in F1 progenies of chili peppers (Capsicum annuum) using genomic prediction based solely on parental information. 仅基于亲本信息的基因组预测对辣椒F1后代果实相关性状的表型模拟
IF 2.3 3区 生物学
Molecular Genetics and Genomics Pub Date : 2025-01-21 DOI: 10.1007/s00438-024-02224-4
Fumiya Kondo, Yui Kumanomido, Mariasilvia D'Andrea, Valentino Palombo, Nahed Ahmed, Shino Futatsuyama, Kazuhiro Nemoto, Kenichi Matsushima
{"title":"Phenotypic simulation for fruit-related traits in F<sub>1</sub> progenies of chili peppers (Capsicum annuum) using genomic prediction based solely on parental information.","authors":"Fumiya Kondo, Yui Kumanomido, Mariasilvia D'Andrea, Valentino Palombo, Nahed Ahmed, Shino Futatsuyama, Kazuhiro Nemoto, Kenichi Matsushima","doi":"10.1007/s00438-024-02224-4","DOIUrl":"https://doi.org/10.1007/s00438-024-02224-4","url":null,"abstract":"<p><p>Chili pepper (Capsicum spp.) fruits are used as vegetables, spices, and ornamental plants, necessitating various fruit characteristics. However, their genetic improvement is challenging through conventional crossbreeding due to the quantitative traits, which makes it difficult to predict phenotypes in the progeny. As a breakthrough, we focused on phenotypic simulation via genomic prediction (GP) and aimed to clarify its utility for fruit-related traits in chili peppers. The present study used 291 C. annuum accessions, including two populations: inbred lines and F<sub>1</sub> accessions derived from 20 inbred parents. We collected data of fruit length, width, shape index (length/width), weight, and pericarp thickness, and obtained single nucleotide polymorphism data via multiplexed inter-simple sequence repeat genotyping by sequencing. We simulated the fruit-related traits in the F<sub>1</sub> accessions by inputting their estimated genotypes (based on their parents) into the GP model using the GBLUP-GAUSS model, which was shown to be the most accurate regardless of population or trait differences in the present study. As a result, we observed strong positive correlations (r = 0.833-0.908) between the simulated and observed phenotypic values across all traits, suggesting that accurate ranking of F<sub>1</sub> progenies based on fruit-related traits can be achieved using parental information. This is the first report demonstrating the utility of phenotypic simulation via GP in chili pepper breeding, offering valuable insights for its application in this field.</p>","PeriodicalId":18816,"journal":{"name":"Molecular Genetics and Genomics","volume":"300 1","pages":"15"},"PeriodicalIF":2.3,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143008518","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}
引用次数: 0
Methyltransferase-like 14 promotes ferroptosis in sepsis-induced acute kidney injury via increasing the m6A methylation modification of LPCAT3. 甲基转移酶样14通过增加LPCAT3的m6A甲基化修饰促进脓毒症诱导的急性肾损伤中的铁凋亡。
IF 2.3 3区 生物学
Molecular Genetics and Genomics Pub Date : 2025-01-21 DOI: 10.1007/s00438-024-02219-1
Lei Xu, Qi-Juan Wang, Ming-Xi Nie, Ze-Fu Chen
{"title":"Methyltransferase-like 14 promotes ferroptosis in sepsis-induced acute kidney injury via increasing the m6A methylation modification of LPCAT3.","authors":"Lei Xu, Qi-Juan Wang, Ming-Xi Nie, Ze-Fu Chen","doi":"10.1007/s00438-024-02219-1","DOIUrl":"https://doi.org/10.1007/s00438-024-02219-1","url":null,"abstract":"<p><p>Acute kidney injury (AKI) is one of the most serious and common complications in the course of sepsis, known for its poor prognosis and high mortality rate. Recently, ferroptosis, as a newly discovered regulatory cell death, might be closely associated with the progression of AKI. METTL14 is a writer of RNA m6A, an abundant epigenetic modification in transcriptome with broad function. Hence, the purpose of our study is to explore the potential function and mechanism of METTL14 on the ferroptosis in sepsis-induced AKI. In this paper, TCMK-1 cells and mice treated with LPS were used to constructe AKI model in vitro and in vivo. Pathological changes of renal tissue were observed by HE staining. The fluorescent probe C11-BODIPY and 4HNE kits were used to measure the lipid peroxidation. The ferroptosis index was evaluated by MDA, GSH and Fe<sup>2+</sup> kits. The total m6A levels were analyzed by EpiQuik M6A RNA methylation kit, and the m6A levels of LPCAT3 were examined by Me-RIP assay. Finally, the interaction between LPCAT3 and METTL14 was clarified using RIP and dual-luciferase reporter gene assays. Our works revealed that the m6A level and ferroptosis was markedly ascended in LPS-induced TCMK-1 cells. The silence of METTL14 lowered the cell viability, the levels of MDA, Fe<sup>2+</sup> and lipid peroxidation in the LPS-stimulated AKI model in vitro and in vivo, but increase GSH levels. Moreover, the up-regulation of ferroptosis-related proteins by LPS was notably inhibited by the knockdown of METTL14. In addition, silencing METTL14 reduced the m6A and mRNA levels of LPCAT3. Furthermore, the efficacy of METTL14 downregulation on the ferroptosis in the LPS-induced TCMK-1 cells were antagonized by LPCAT3 overexpression. Taken together, our findings revealed that METTL14 knockdown resisted ferroptosis in sepsis-induced AKI through lessening the level of LPCAT3 mediated by m6A modification.</p>","PeriodicalId":18816,"journal":{"name":"Molecular Genetics and Genomics","volume":"300 1","pages":"16"},"PeriodicalIF":2.3,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143008512","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}
引用次数: 0
Differential effects of β-hydroxybutyrate and α-ketoglutarate on HCT-116 colorectal cancer cell viability under normoxic and hypoxic low-glucose conditions: exploring the role of SRC, HIF1α, ACAT1, and SIRT2 genes. 常氧和低氧低糖条件下β-羟基丁酸和α-酮戊二酸对HCT-116结直肠癌细胞活力的差异影响:探讨SRC、HIF1α、ACAT1和SIRT2基因的作用。
IF 2.3 3区 生物学
Molecular Genetics and Genomics Pub Date : 2025-01-20 DOI: 10.1007/s00438-024-02211-9
Parisa Badameh, Farideh Akhlaghi Tabar, Nima Mohammadipoor, Roya Rezaei, Roza Ranjkesh, Mohammad Hasan Maleki, Omid Vakili, Sayed Mohammad Shafiee
{"title":"Differential effects of β-hydroxybutyrate and α-ketoglutarate on HCT-116 colorectal cancer cell viability under normoxic and hypoxic low-glucose conditions: exploring the role of SRC, HIF1α, ACAT1, and SIRT2 genes.","authors":"Parisa Badameh, Farideh Akhlaghi Tabar, Nima Mohammadipoor, Roya Rezaei, Roza Ranjkesh, Mohammad Hasan Maleki, Omid Vakili, Sayed Mohammad Shafiee","doi":"10.1007/s00438-024-02211-9","DOIUrl":"https://doi.org/10.1007/s00438-024-02211-9","url":null,"abstract":"<p><p>Recent therapeutic strategies have highlighted the potential of β-hydroxybutyrate (BHB) and α-ketoglutarate (α-KG) as effective anticancer agents, particularly for colon cancer. These metabolites can modulate cellular metabolism and induce epigenetic changes, inhibiting tumor growth. Nonetheless, certain cancer cells may utilize ketone bodies, like BHB as nutrient sources under hypoxic conditions, potentially reducing treatment efficacy. Understanding these mechanisms is crucial for optimizing cancer therapies. This study evaluated the effects of BHB and α-KG on HCT-116 colorectal cancer cell viability under normoxic and low-glucose hypoxic conditions. HCT-116 cell lines were treated with different doses of BHB and α-KG in normoxic and low-glucose hypoxic conditions, and then cell viability was assessed by the MTT assay. Moreover, the mRNA expression levels of SRC, hypoxia-inducible factor 1α (HIF-1α), acetyl-CoA acetyltransferase 1 (ACAT1), and sirtuin 2 (SIRT2) genes were determined using quantitative reverse transcriptase-polymerase chain reaction (q RT-PCR). BHB significantly increased the proliferation of HCT-116 colon cancer cells under low-glucose hypoxic conditions, while α-KG maintained cell viability in normoxic conditions but not in hypoxia. BHB treatment reduced SIRT2 mRNA levels and increased ACAT1, SRC, and HIF-1α expression. Conversely, α-KG decreased ACAT1, SRC, and HIF-1α expression and increased SIRT2 levels in normoxia but could not reverse gene expression during hypoxia. Our study demonstrated that BHB and α-KG exhibited complex interactions with colon cancer cell viability under varying oxygen and glucose conditions. While BHB promoted cell proliferation in hypoxic environments, α-KG showed protective effects in normoxic conditions. This research contributed to the growing body of evidence supporting the role of metabolic modulators in cancer therapy and emphasized the importance of understanding tumor microenvironments to optimize treatment outcomes. However, the need for further research into the metabolic pathways is underscored to enhance therapeutic strategies for cancer treatment.</p>","PeriodicalId":18816,"journal":{"name":"Molecular Genetics and Genomics","volume":"300 1","pages":"14"},"PeriodicalIF":2.3,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143008496","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}
引用次数: 0
Identification of Quantitative Trait Loci (QTLs) and candidate genes for trichome development in Brassica villosa using genetic, genomic, and transcriptomic approaches. 利用遗传、基因组和转录组学方法鉴定芸苔毛状体发育的数量性状位点和候选基因
IF 2.3 3区 生物学
Molecular Genetics and Genomics Pub Date : 2025-01-07 DOI: 10.1007/s00438-024-02223-5
Thomas Bergmann, Wanzhi Ye, Steffen Rietz, Daguang Cai
{"title":"Identification of Quantitative Trait Loci (QTLs) and candidate genes for trichome development in Brassica villosa using genetic, genomic, and transcriptomic approaches.","authors":"Thomas Bergmann, Wanzhi Ye, Steffen Rietz, Daguang Cai","doi":"10.1007/s00438-024-02223-5","DOIUrl":"https://doi.org/10.1007/s00438-024-02223-5","url":null,"abstract":"<p><p>Brassica villosa is characterized by its dense hairiness and high resistance against the fungal pathogen Sclerotinia sclerotiorum. Information on the genetic and molecular mechanisms governing trichome development in B. villosa is rare. Here, we analyzed an F<sub>2</sub> population, derived from a cross between B. villosa and the glabrous B. oleracea by QTL mapping and transcriptomic analyses. As a result, the phenotyping of 171 F<sub>2</sub> progenies revealed a wide range of variation in trichome development. Subsequent genotyping with the 15-k Illumina SNP array resulted in a genetic map with 970 markers and a total length of 812 cM. Four QTLs were identified, which explained phenotypic variation from 3.2% to 40.3%. Interestingly, one of these was partially co-localized with the major QTL for Sclerotinia-resistance previously detected in the same F<sub>2</sub> population. However, only a moderate correlation between trichomes and Sclerotinia-resistance was observed. In total, 133 differentially expressed genes (DEGs) associated with trichome development were identified, from which only BoTRY, an orthologue of Arabidopsis TRY encoding a MYB transcription factor negatively regulating trichome development, was located within the major QTL. Expression of BoTRY was tissue-specific and highly variable between the hairy and glabrous species, suggesting that BoTRY may also act as a master-switch regulator of trichome development in B. villosa. This study provides valuable data for further understanding the genetic architecture of trichome development and identifying related genes and mechanisms in Brassica species. Molecular markers can be developed to facilitate the introgression and selection of this trait in oilseed rape breeding.</p>","PeriodicalId":18816,"journal":{"name":"Molecular Genetics and Genomics","volume":"300 1","pages":"13"},"PeriodicalIF":2.3,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11703928/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142951887","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}
引用次数: 0
PmiR-Select® - a computational approach to plant pre-miRNA identification in genomes. PmiR-Select®-植物基因组中pre-miRNA鉴定的计算方法
IF 2.3 3区 生物学
Molecular Genetics and Genomics Pub Date : 2025-01-03 DOI: 10.1007/s00438-024-02221-7
Deborah Bambil, Mirele Costa, Lúcio Flávio de Alencar Figueiredo
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