Pub Date : 2024-11-18DOI: 10.1007/s10142-024-01494-w
Mengwei Cheng, Yinhuan Zhu, Han Yu, Linlin Shao, Yiming Zhang, Lanxing Li, Haohong Tu, Luyao Xie, Haoyu Chao, Peijing Zhang, Saige Xin, Cong Feng, Vladimir Ivanisenko, Yuriy Orlov, Dijun Chen, Aloysius Wong, Yixin Eric Yang, Ming Chen
An increasing number of non-coding RNAs (ncRNAs) are found to have roles in gene expression and cellular regulations. However, there are still a large number of ncRNAs whose functions remain to be studied. Despite decades of research, the field continues to evolve, with each newly identified ncRNA undergoing processes such as biogenesis, identification, and functional annotation. Bioinformatics methodologies, alongside traditional biochemical experimental methods, have played an important role in advancing ncRNA research across various stages. Presently, over 50 types of ncRNAs have been characterized, each exhibiting diverse functions. However, there remains a need for standardization and integration of these ncRNAs within a unified framework. In response to this gap, this review traces the historical trajectory of ncRNA research and proposes a unified notation system. Additionally, we comprehensively elucidate the ncRNA interactome, detailing its associations with DNAs, RNAs, proteins, complexes, and chromatin. A web portal named ncRNA Hub ( https://bis.zju.edu.cn/nchub/ ) is also constructed to provide detailed notations of ncRNAs and share a collection of bioinformatics resources. This review aims to provide a broader perspective and standardized paradigm for advancing ncRNA research.
{"title":"Non-coding RNA notations, regulations and interactive resources.","authors":"Mengwei Cheng, Yinhuan Zhu, Han Yu, Linlin Shao, Yiming Zhang, Lanxing Li, Haohong Tu, Luyao Xie, Haoyu Chao, Peijing Zhang, Saige Xin, Cong Feng, Vladimir Ivanisenko, Yuriy Orlov, Dijun Chen, Aloysius Wong, Yixin Eric Yang, Ming Chen","doi":"10.1007/s10142-024-01494-w","DOIUrl":"https://doi.org/10.1007/s10142-024-01494-w","url":null,"abstract":"<p><p>An increasing number of non-coding RNAs (ncRNAs) are found to have roles in gene expression and cellular regulations. However, there are still a large number of ncRNAs whose functions remain to be studied. Despite decades of research, the field continues to evolve, with each newly identified ncRNA undergoing processes such as biogenesis, identification, and functional annotation. Bioinformatics methodologies, alongside traditional biochemical experimental methods, have played an important role in advancing ncRNA research across various stages. Presently, over 50 types of ncRNAs have been characterized, each exhibiting diverse functions. However, there remains a need for standardization and integration of these ncRNAs within a unified framework. In response to this gap, this review traces the historical trajectory of ncRNA research and proposes a unified notation system. Additionally, we comprehensively elucidate the ncRNA interactome, detailing its associations with DNAs, RNAs, proteins, complexes, and chromatin. A web portal named ncRNA Hub ( https://bis.zju.edu.cn/nchub/ ) is also constructed to provide detailed notations of ncRNAs and share a collection of bioinformatics resources. This review aims to provide a broader perspective and standardized paradigm for advancing ncRNA research.</p>","PeriodicalId":574,"journal":{"name":"Functional & Integrative Genomics","volume":"24 6","pages":"217"},"PeriodicalIF":3.9,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142666619","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
At the dawn of new millennium, policy makers and researchers focused on sustainable agricultural growth, aiming for food security and enhanced food quality. Several emerging scientific innovations hold the promise to meet the future challenges. Nanotechnology presents a promising avenue to tackle the diverse challenges in agriculture. By leveraging nanomaterials, including nano fertilizers, pesticides, and sensors, it provides targeted delivery methods, enhancing efficacy in both crop production and protection. This integration of nanotechnology with agriculture introduces innovations like disease diagnostics, improved nutrient uptake in plants, and advanced delivery systems for agrochemicals. These precision-based approaches not only optimize resource utilization but also reduce environmental impact, aligning well with sustainability objectives. Concurrently, genetic innovations, including genome editing and advanced breeding techniques, enable the development of crops with improved yield, resilience, and nutritional content. The emergence of precision gene-editing technologies, exemplified by CRISPR/Cas9, can transform the realm of genetic modification and enabled precise manipulation of plant genomes while avoiding the incorporation of external DNAs. Integration of nanotechnology and genetic innovations in agriculture presents a transformative approach. Leveraging nanoparticles for targeted genetic modifications, nanosensors for early plant health monitoring, and precision nanomaterials for controlled delivery of inputs offers a sustainable pathway towards enhanced crop productivity, resource efficiency, and food safety throughout the agricultural lifecycle. This comprehensive review outlines the pivotal role of nanotechnology in precision agriculture, emphasizing soil health improvement, stress resilience against biotic and abiotic factors, environmental sustainability, and genetic engineering.
新千年伊始,政策制定者和研究人员把重点放在了可持续农业增长上,以实现粮食安全和提高粮食质量为目标。一些新兴的科学创新有望应对未来的挑战。纳米技术为应对农业领域的各种挑战提供了一条大有可为的途径。通过利用纳米材料,包括纳米肥料、农药和传感器,纳米技术提供了有针对性的给药方法,提高了作物生产和保护的功效。纳米技术与农业的结合带来了各种创新,如疾病诊断、改善植物对养分的吸收以及先进的农用化学品输送系统。这些以精准为基础的方法不仅优化了资源利用,还减少了对环境的影响,与可持续发展的目标不谋而合。与此同时,基因创新,包括基因组编辑和先进的育种技术,使作物的产量、抗逆性和营养成分得到提高。以 CRISPR/Cas9 为代表的精准基因编辑技术的出现可以改变基因修饰领域,实现对植物基因组的精准操作,同时避免外部 DNA 的加入。将纳米技术与农业基因创新相结合是一种变革性的方法。利用纳米粒子进行有针对性的基因修饰,利用纳米传感器进行早期植物健康监测,以及利用精密纳米材料控制投入品的输送,为在整个农业生命周期内提高作物生产力、资源效率和食品安全提供了一条可持续的途径。本综述概述了纳米技术在精准农业中的关键作用,强调了土壤健康改善、对生物和非生物因素的抗逆性、环境可持续性和基因工程。
{"title":"Can nanotechnology and genomics innovations trigger agricultural revolution and sustainable development?","authors":"Arzish Javaid, Sadaf Hameed, Lijie Li, Zhiyong Zhang, Baohong Zhang, Mehboob-ur -Rahman","doi":"10.1007/s10142-024-01485-x","DOIUrl":"10.1007/s10142-024-01485-x","url":null,"abstract":"<div><p>At the dawn of new millennium, policy makers and researchers focused on sustainable agricultural growth, aiming for food security and enhanced food quality. Several emerging scientific innovations hold the promise to meet the future challenges. Nanotechnology presents a promising avenue to tackle the diverse challenges in agriculture. By leveraging nanomaterials, including nano fertilizers, pesticides, and sensors, it provides targeted delivery methods, enhancing efficacy in both crop production and protection. This integration of nanotechnology with agriculture introduces innovations like disease diagnostics, improved nutrient uptake in plants, and advanced delivery systems for agrochemicals. These precision-based approaches not only optimize resource utilization but also reduce environmental impact, aligning well with sustainability objectives. Concurrently, genetic innovations, including genome editing and advanced breeding techniques, enable the development of crops with improved yield, resilience, and nutritional content. The emergence of precision gene-editing technologies, exemplified by CRISPR/Cas9, can transform the realm of genetic modification and enabled precise manipulation of plant genomes while avoiding the incorporation of external DNAs. Integration of nanotechnology and genetic innovations in agriculture presents a transformative approach. Leveraging nanoparticles for targeted genetic modifications, nanosensors for early plant health monitoring, and precision nanomaterials for controlled delivery of inputs offers a sustainable pathway towards enhanced crop productivity, resource efficiency, and food safety throughout the agricultural lifecycle. This comprehensive review outlines the pivotal role of nanotechnology in precision agriculture, emphasizing soil health improvement, stress resilience against biotic and abiotic factors, environmental sustainability, and genetic engineering.</p></div>","PeriodicalId":574,"journal":{"name":"Functional & Integrative Genomics","volume":"24 6","pages":""},"PeriodicalIF":3.9,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://link.springer.com/content/pdf/10.1007/s10142-024-01485-x.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142643559","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-16DOI: 10.1007/s10142-024-01502-z
Chieh Kao, Cheng-Hsun Ho
Previous studies have demonstrated the clinical relevance of aberrant serum immunoglobulin G (IgG) N-glycomic profiles in liver fibrosis and the pathogenic effects of agalactosyl IgG on activating hepatic stellate cells (HSCs). However, the dynamics of gene expression changes during HSC activation by agalactosyl IgG remain poorly understood. We performed RNA sequencing to analyze the mRNAome of human LX-2 HSCs at multiple time points after treatment with agalactosyl IgG and then compared these results with those obtained after normal IgG and transforming growth factor (TGF)-β1 treatments. Gene expression changes were significantly pronounced on day 5 and subsided by day 11 after HSC activation. A high degree of similarity in gene expression patterns between HSCs treated with agalactosyl IgG and TGF-β1 was observed, of which 1796 and 1785 differentially expressed genes (DEGs) were identified, respectively. Disease ontology analyses revealed that 114 and 105 DEGs in activated HSCs following agalactosyl IgG and TGF-β1 treatments, respectively, were linked to liver cirrhosis, hepatitis, fatty liver disease, hepatitis B, and alcoholic hepatitis, with CCL5 and FAS being the most commonly affected genes. DEGs associated with liver fibrosis or aforementioned liver diseases involved in gene annotation, physiological functions, and signaling pathways regarding secretion of cytokines and chemokines, expression of fibrosis-related growth factors and their receptors, modification of extracellular matrices, and regulation of cell viability in activated HSCs. In conclusion, this study characterized the dynamics of mRNAome and gene networks and identified the liver fibrosis-related DEGs during HSC activation by agalactosyl IgG and TGF-β1.
{"title":"Time-course RNA sequencing reveals high similarity in mRNAome between hepatic stellate cells activated by agalactosyl IgG and TGF-β1","authors":"Chieh Kao, Cheng-Hsun Ho","doi":"10.1007/s10142-024-01502-z","DOIUrl":"10.1007/s10142-024-01502-z","url":null,"abstract":"<div><p>Previous studies have demonstrated the clinical relevance of aberrant serum immunoglobulin G (IgG) <i>N</i>-glycomic profiles in liver fibrosis and the pathogenic effects of agalactosyl IgG on activating hepatic stellate cells (HSCs). However, the dynamics of gene expression changes during HSC activation by agalactosyl IgG remain poorly understood. We performed RNA sequencing to analyze the mRNAome of human LX-2 HSCs at multiple time points after treatment with agalactosyl IgG and then compared these results with those obtained after normal IgG and transforming growth factor (TGF)-β1 treatments. Gene expression changes were significantly pronounced on day 5 and subsided by day 11 after HSC activation. A high degree of similarity in gene expression patterns between HSCs treated with agalactosyl IgG and TGF-β1 was observed, of which 1796 and 1785 differentially expressed genes (DEGs) were identified, respectively. Disease ontology analyses revealed that 114 and 105 DEGs in activated HSCs following agalactosyl IgG and TGF-β1 treatments, respectively, were linked to liver cirrhosis, hepatitis, fatty liver disease, hepatitis B, and alcoholic hepatitis, with <i>CCL5</i> and <i>FAS</i> being the most commonly affected genes. DEGs associated with liver fibrosis or aforementioned liver diseases involved in gene annotation, physiological functions, and signaling pathways regarding secretion of cytokines and chemokines, expression of fibrosis-related growth factors and their receptors, modification of extracellular matrices, and regulation of cell viability in activated HSCs. In conclusion, this study characterized the dynamics of mRNAome and gene networks and identified the liver fibrosis-related DEGs during HSC activation by agalactosyl IgG and TGF-β1.</p></div>","PeriodicalId":574,"journal":{"name":"Functional & Integrative Genomics","volume":"24 6","pages":""},"PeriodicalIF":3.9,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142643582","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-15DOI: 10.1007/s10142-024-01498-6
Sonu Kumar, Asheesh Shanker, Dinesh Gupta
Microsatellites, or simple sequence repeats (SSRs), are repetitive DNA sequences typically composed of 1–6 nucleotides. These repetitive sequences are found in almost all genomes, including chloroplasts and mitochondria, and are widely distributed throughout the genomes. Microsatellites are highly polymorphic, and their length may differ from species to species. Consequently, microsatellites are widely used as molecular markers and play pivotal roles in various biological research. However, comprehensive information about the length variation of microsatellites in various organellar genome sequences is not available. Therefore, to provide mined information and explore the variability in the length of microsatellites across species, we developed a comprehensive resource named pSATdb 2.0 (polymorphic microSATellites database; https://bioinfo.icgeb.res.in/psatdb/). This upgraded version of its predecessor pSATdb provides comprehensive information on the frequency and distribution of 348,894 microsatellites identified in organellar genome sequences. These sequences originate from 15,681 organisms spanning 3252 genera within Metazoa and Viridiplantae. Remarkably, pSATdb 2.0 is the only database that offers information on common and polymorphic microsatellites detected between organisms, along with unique microsatellites specific to each genus. Furthermore, this database features unrestricted access and includes pioneer functionalities such as Advanced Search, BLAST, and JBrowse, which facilitate user-specific microsatellite search and its visualization within the database. The pSATdb holds immense potential for the research community to support diverse studies, including genetic diversity, genetic mapping, marker-assisted selection, and comparative population investigations.
{"title":"pSATdb 2.0: a database of organellar common, polymorphic, and unique microsatellites","authors":"Sonu Kumar, Asheesh Shanker, Dinesh Gupta","doi":"10.1007/s10142-024-01498-6","DOIUrl":"10.1007/s10142-024-01498-6","url":null,"abstract":"<div><p>Microsatellites, or simple sequence repeats (SSRs), are repetitive DNA sequences typically composed of 1–6 nucleotides. These repetitive sequences are found in almost all genomes, including chloroplasts and mitochondria, and are widely distributed throughout the genomes. Microsatellites are highly polymorphic, and their length may differ from species to species. Consequently, microsatellites are widely used as molecular markers and play pivotal roles in various biological research. However, comprehensive information about the length variation of microsatellites in various organellar genome sequences is not available. Therefore, to provide mined information and explore the variability in the length of microsatellites across species, we developed a comprehensive resource named pSATdb 2.0 (<b>p</b>olymorphic micro<b>SAT</b>ellites <b>d</b>ata<b>b</b>ase; https://bioinfo.icgeb.res.in/psatdb/). This upgraded version of its predecessor pSATdb provides comprehensive information on the frequency and distribution of 348,894 microsatellites identified in organellar genome sequences. These sequences originate from 15,681 organisms spanning 3252 genera within Metazoa and Viridiplantae. Remarkably, pSATdb 2.0 is the only database that offers information on common and polymorphic microsatellites detected between organisms, along with unique microsatellites specific to each genus. Furthermore, this database features unrestricted access and includes pioneer functionalities such as Advanced Search, BLAST, and JBrowse, which facilitate user-specific microsatellite search and its visualization within the database. The pSATdb holds immense potential for the research community to support diverse studies, including genetic diversity, genetic mapping, marker-assisted selection, and comparative population investigations.</p></div>","PeriodicalId":574,"journal":{"name":"Functional & Integrative Genomics","volume":"24 6","pages":""},"PeriodicalIF":3.9,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142636978","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-15DOI: 10.1007/s10142-024-01495-9
Bin Liu, Yuanlin Sun, Wei Wang, Jun Ren, Daorong Wang
Gastric cancer (GC) is the third leading cause of death in developed countries. The reprogramming of energy metabolism represents a hallmark of cancer, particularly amplified dependence on aerobic glycolysis. Here, we aimed to illustrate the functional role of glutamate ionotropic receptor N-methyl-D-aspartate type subunit 2D (GRIN2D) in the regulation of glycolysis in GC and the mechanisms involved. Differentially expressed genes were analyzed using the GEO and GEPIA databases, followed by prognostic value prediction using the Kaplan-Meier Plotter database. The effect of GRIN2D knockdown on the malignant behavior and glycolysis of GC cells was explored. GRIN2D expression was upregulated in GC cells and promoted the malignant behavior of GC cells by activating glycolysis. Class E basic helix-loop-helix protein 40 (BHLHE40) was overexpressed in GC cells and mediated transcriptional activation of GRIN2D. The anti-tumor effects of BHLHE40 knockdown on GC cells in vitro and in vivo were reversed by GRIN2D overexpression. Knockdown of GRIN2D or BHLHE40 downregulated the expression of mRNA of electron transport chain subunits and phosphorylation of p38 MARK and inhibited calcium efflux in GC cells. Overexpression of GRIN2D promoted calcium efflux, phosphorylation of p38 MARK protein, and proliferation of GES1 cells. Altogether, the findings derived from this study suggest that BHLHE40 knockdown suppresses the growth, mobility, and glycolysis of GC cells by inhibiting GRIN2D transcription and disrupting the BHLHE40/GRIN2D axis may be an attractive therapeutic strategy for GC.
{"title":"BHLHE40-mediated transcriptional activation of GRIN2D in gastric cancer is involved in metabolic reprogramming","authors":"Bin Liu, Yuanlin Sun, Wei Wang, Jun Ren, Daorong Wang","doi":"10.1007/s10142-024-01495-9","DOIUrl":"10.1007/s10142-024-01495-9","url":null,"abstract":"<div><p>Gastric cancer (GC) is the third leading cause of death in developed countries. The reprogramming of energy metabolism represents a hallmark of cancer, particularly amplified dependence on aerobic glycolysis. Here, we aimed to illustrate the functional role of glutamate ionotropic receptor N-methyl-D-aspartate type subunit 2D (GRIN2D) in the regulation of glycolysis in GC and the mechanisms involved. Differentially expressed genes were analyzed using the GEO and GEPIA databases, followed by prognostic value prediction using the Kaplan-Meier Plotter database. The effect of GRIN2D knockdown on the malignant behavior and glycolysis of GC cells was explored. GRIN2D expression was upregulated in GC cells and promoted the malignant behavior of GC cells by activating glycolysis. Class E basic helix-loop-helix protein 40 (BHLHE40) was overexpressed in GC cells and mediated transcriptional activation of GRIN2D. The anti-tumor effects of BHLHE40 knockdown on GC cells in vitro and in vivo were reversed by GRIN2D overexpression. Knockdown of GRIN2D or BHLHE40 downregulated the expression of mRNA of electron transport chain subunits and phosphorylation of p38 MARK and inhibited calcium efflux in GC cells. Overexpression of GRIN2D promoted calcium efflux, phosphorylation of p38 MARK protein, and proliferation of GES1 cells. Altogether, the findings derived from this study suggest that BHLHE40 knockdown suppresses the growth, mobility, and glycolysis of GC cells by inhibiting GRIN2D transcription and disrupting the BHLHE40/GRIN2D axis may be an attractive therapeutic strategy for GC.</p></div>","PeriodicalId":574,"journal":{"name":"Functional & Integrative Genomics","volume":"24 6","pages":""},"PeriodicalIF":3.9,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142636938","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-02DOI: 10.1007/s10142-024-01289-z
Amjad Rehman, Muhammad Mujahid, Tanzila Saba, Gwanggil Jeon
With recent advances in precision medicine and healthcare computing, there is an enormous demand for developing machine learning algorithms in genomics to enhance the rapid analysis of disease disorders. Technological advancement in genomics and imaging provides clinicians with enormous amounts of data, but prediction is still mostly subjective, resulting in problematic medical treatment. Machine learning is being employed in several domains of the healthcare sector, encompassing clinical research, early disease identification, and medicinal innovation with a historical perspective. The main objective of this study is to detect patients who, based on several medical standards, are more susceptible to having a genetic disorder. A genetic disease prediction algorithm was employed, leveraging the patient’s health history to evaluate the probability of diagnosing a genetic disorder. We developed a computationally efficient machine learning approach to predict the overall lifespan of patients with a genomics disorder and to classify and predict patients with a genetic disease. The SVM, RF, and ETC are stacked using two-layer meta-estimators to develop the proposed model. The first layer comprises all the baseline models employed to predict the outcomes based on the dataset. The second layer comprises a component known as a meta-classifier. Results from the experiment indicate that the model achieved an accuracy of 90.45% and a recall score of 90.19%. The area under the curve (AUC) for mitochondrial diseases is 98.1%; for multifactorial diseases, it is 97.5%; and for single-gene inheritance, it is 98.8%. The proposed approach presents a novel method for predicting patient prognosis in a manner that is unbiased, accurate, and comprehensive. The proposed approach outperforms human professionals using the current clinical standard for genetic disease classification in terms of identification accuracy. The implementation of stacked will significantly improve the field of biomedical research by improving the anticipation of genetic diseases.
{"title":"Optimised stacked machine learning algorithms for genomics and genetics disorder detection in the healthcare industry","authors":"Amjad Rehman, Muhammad Mujahid, Tanzila Saba, Gwanggil Jeon","doi":"10.1007/s10142-024-01289-z","DOIUrl":"10.1007/s10142-024-01289-z","url":null,"abstract":"<div><p>With recent advances in precision medicine and healthcare computing, there is an enormous demand for developing machine learning algorithms in genomics to enhance the rapid analysis of disease disorders. Technological advancement in genomics and imaging provides clinicians with enormous amounts of data, but prediction is still mostly subjective, resulting in problematic medical treatment. Machine learning is being employed in several domains of the healthcare sector, encompassing clinical research, early disease identification, and medicinal innovation with a historical perspective. The main objective of this study is to detect patients who, based on several medical standards, are more susceptible to having a genetic disorder. A genetic disease prediction algorithm was employed, leveraging the patient’s health history to evaluate the probability of diagnosing a genetic disorder. We developed a computationally efficient machine learning approach to predict the overall lifespan of patients with a genomics disorder and to classify and predict patients with a genetic disease. The SVM, RF, and ETC are stacked using two-layer meta-estimators to develop the proposed model. The first layer comprises all the baseline models employed to predict the outcomes based on the dataset. The second layer comprises a component known as a meta-classifier. Results from the experiment indicate that the model achieved an accuracy of 90.45% and a recall score of 90.19%. The area under the curve (AUC) for mitochondrial diseases is 98.1%; for multifactorial diseases, it is 97.5%; and for single-gene inheritance, it is 98.8%. The proposed approach presents a novel method for predicting patient prognosis in a manner that is unbiased, accurate, and comprehensive. The proposed approach outperforms human professionals using the current clinical standard for genetic disease classification in terms of identification accuracy. The implementation of stacked will significantly improve the field of biomedical research by improving the anticipation of genetic diseases.</p></div>","PeriodicalId":574,"journal":{"name":"Functional & Integrative Genomics","volume":"24 1","pages":""},"PeriodicalIF":3.9,"publicationDate":"2024-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139664586","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-01-20DOI: 10.1007/s10142-024-01297-z
Moneerah Alsaeed, Galyah Alhamid, Huseyin Tombuloglu, Juma H Kabanja, Aysel Karagoz, Guzin Tombuloglu, Ali A. Rabaan, Ebtesam Al-Suhaimi, Turgay Unver
This study investigates the performance of reverse transcription loop-mediated isothermal amplification (RT-LAMP) assay for the colorimetric detection of SARS-CoV-2 using fluorometric dye, namely, calcein. The detection limit (LoD) with the N-ID1 primer set resulted in superior performance, corresponding to ~ 2 copies/reaction or ~ 0.1 copies/μL of the RNA sample. The color development can be observed by the naked eye, using an ultraviolet (UV) transilluminator or a hand-UV light without the requirement of expensive devices. The average time-to-reaction (TTR) value was 26.2 min in high-copy number samples, while it was about 50 min in rRT-PCR. A mobile application was proposed to quantify the positive and negative results based on the three-color spaces (RGB, Lab, and HSB). Compared to rRT-PCR (n = 67), this assay allows fast and sensitive visual detection of SARS-CoV-2, with high sensitivity (90.9%), selectivity (100%), and accuracy (94.03%). Besides, the assay was sensitive regardless of variants. Since this assay uses a fluorescent dye for visual observation, it can be easily adapted in RT-LAMP assays with high sensitivity. Thus, it can be utilized in low-source centers and field testing such as conferences, sports meetings, refugee camps, companies, and schools.
{"title":"Ultrasensitive and fast detection of SARS-CoV-2 using RT-LAMP without pH-dependent dye","authors":"Moneerah Alsaeed, Galyah Alhamid, Huseyin Tombuloglu, Juma H Kabanja, Aysel Karagoz, Guzin Tombuloglu, Ali A. Rabaan, Ebtesam Al-Suhaimi, Turgay Unver","doi":"10.1007/s10142-024-01297-z","DOIUrl":"10.1007/s10142-024-01297-z","url":null,"abstract":"<div><p>This study investigates the performance of reverse transcription loop-mediated isothermal amplification (RT-LAMP) assay for the colorimetric detection of SARS-CoV-2 using fluorometric dye, namely, calcein. The detection limit (LoD) with the N-ID1 primer set resulted in superior performance, corresponding to ~ 2 copies/reaction or ~ 0.1 copies/μL of the RNA sample. The color development can be observed by the naked eye, using an ultraviolet (UV) transilluminator or a hand-UV light without the requirement of expensive devices. The average time-to-reaction (TTR) value was 26.2 min in high-copy number samples, while it was about 50 min in rRT-PCR. A mobile application was proposed to quantify the positive and negative results based on the three-color spaces (RGB, Lab, and HSB). Compared to rRT-PCR (<i>n</i> = 67), this assay allows fast and sensitive visual detection of SARS-CoV-2, with high sensitivity (90.9%), selectivity (100%), and accuracy (94.03%). Besides, the assay was sensitive regardless of variants. Since this assay uses a fluorescent dye for visual observation, it can be easily adapted in RT-LAMP assays with high sensitivity. Thus, it can be utilized in low-source centers and field testing such as conferences, sports meetings, refugee camps, companies, and schools.</p></div>","PeriodicalId":574,"journal":{"name":"Functional & Integrative Genomics","volume":"24 1","pages":""},"PeriodicalIF":3.9,"publicationDate":"2024-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139502050","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Multiple myeloma (MM) is a common type of blood cancer affecting plasma cells originating from the lymphoid B-cell lineage. It accounts for about 10% of all hematological malignancies and can cause significant end-organ damage. The emergence of genomic technologies such as next-generation sequencing and gene expression analysis has opened new possibilities for early detection of multiple myeloma and identification of personalized treatment options. However, there remain significant challenges to overcome in MM research, including integrating multi-omics data, achieving a comprehensive understanding of the disease, and developing targeted therapies and biomarkers. The extensive data generated by these technologies presents another challenge for data analysis and interpretation. To bridge this gap, we have developed a multi-omics open-access database called MyeloDB. It includes gene expression profiling, high-throughput CRISPR-Cas9 screens, drug sensitivity resources profile, and biomarkers. MyeloDB contains 47 expression profiles, 3 methylation profiles comprising a total of 5630 patient samples and 25 biomarkers which were reported in previous studies. In addition to this, MyeloDB can provide significant insight of gene mutations in MM on drug sensitivity. Furthermore, users can download the datasets and conduct their own analyses. Utilizing this database, we have identified five novel genes, i.e., CBFB, MANF, MBNL1, SEPHS2, and UFM1 as potential drug targets for MM. We hope MyeloDB will serve as a comprehensive platform for researchers and foster novel discoveries in MM. MyeloDB Database URL: https://project.iith.ac.in/cgntlab/myelodb/.
多发性骨髓瘤(MM)是一种常见的血癌,影响源自淋巴 B 细胞系的浆细胞。它约占所有血液恶性肿瘤的 10%,可造成严重的内脏损害。新一代测序和基因表达分析等基因组学技术的出现,为早期检测多发性骨髓瘤和确定个性化治疗方案提供了新的可能性。然而,多发性骨髓瘤研究仍需克服重大挑战,包括整合多组学数据、全面了解该疾病以及开发靶向疗法和生物标记物。这些技术产生的大量数据为数据分析和解读带来了另一个挑战。为了弥补这一差距,我们开发了一个多组学开放数据库,名为 MyeloDB。它包括基因表达谱分析、高通量 CRISPR-Cas9 筛选、药物敏感性资源概况和生物标记物。MyeloDB 包含 47 个表达图谱、3 个甲基化图谱(共 5630 个患者样本)和 25 个生物标记物,这些生物标记物在之前的研究中已有报道。此外,MyeloDB 还能提供 MM 基因突变对药物敏感性的重要影响。此外,用户还可以下载数据集并进行自己的分析。利用该数据库,我们发现了五个新基因,即 CBFB、MANF、MBNL1、SEPHS2 和 UFM1,它们是治疗 MM 的潜在药物靶点。我们希望 MyeloDB 成为研究人员的综合平台,促进 MM 领域的新发现。MyeloDB 数据库网址:https://project.iith.ac.in/cgntlab/myelodb/.
{"title":"MyeloDB: a multi-omics resource for multiple myeloma","authors":"Ambuj Kumar, Keerthana Vinod Kumar, Kavita Kundal, Avik Sengupta, Simran Sharma, Kunjulakshmi R, Rahul Kumar","doi":"10.1007/s10142-023-01280-0","DOIUrl":"10.1007/s10142-023-01280-0","url":null,"abstract":"<div><p>Multiple myeloma (MM) is a common type of blood cancer affecting plasma cells originating from the lymphoid B-cell lineage. It accounts for about 10% of all hematological malignancies and can cause significant end-organ damage. The emergence of genomic technologies such as next-generation sequencing and gene expression analysis has opened new possibilities for early detection of multiple myeloma and identification of personalized treatment options. However, there remain significant challenges to overcome in MM research, including integrating multi-omics data, achieving a comprehensive understanding of the disease, and developing targeted therapies and biomarkers. The extensive data generated by these technologies presents another challenge for data analysis and interpretation. To bridge this gap, we have developed a multi-omics open-access database called MyeloDB. It includes gene expression profiling, high-throughput CRISPR-Cas9 screens, drug sensitivity resources profile, and biomarkers. MyeloDB contains 47 expression profiles, 3 methylation profiles comprising a total of 5630 patient samples and 25 biomarkers which were reported in previous studies. In addition to this, MyeloDB can provide significant insight of gene mutations in MM on drug sensitivity. Furthermore, users can download the datasets and conduct their own analyses. Utilizing this database, we have identified five novel genes, i.e., <i>CBFB</i>, <i>MANF</i>, <i>MBNL1</i>, <i>SEPHS2</i>, and <i>UFM1</i> as potential drug targets for MM. We hope MyeloDB will serve as a comprehensive platform for researchers and foster novel discoveries in MM. MyeloDB Database URL: https://project.iith.ac.in/cgntlab/myelodb/.</p></div>","PeriodicalId":574,"journal":{"name":"Functional & Integrative Genomics","volume":"24 1","pages":""},"PeriodicalIF":3.9,"publicationDate":"2024-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139508572","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Cytochrome P450s are a large family of protein-encoding genes in plant genomes, many of which have not yet been comprehensively characterized. Here, a novel P450 gene, CYP82D47, was isolated and functionally characterized from cucumber (Cucumis sativus L.). Quantitative real-time reverse-transcription polymerase chain reaction analysis revealed that CYP82D47 expression was triggered by salicylic acid (SA) and ethephon (ETH). Expression analysis revealed a correlation between CYP82D47 transcript levels and plant defense responses against powdery mildew (PM) and Fusarium oxysporum f. sp. cucumerinum (Foc). Although no significant differences were observed in disease resistance between CYP82D47-RNAi and wild-type cucumber, overexpression (OE) of CYP82D47 enhanced PM and Foc resistance in cucumber. Furthermore, the expression levels of SA-related genes (PR1, PR2, PR4, and PR5) increased in CYP82D47-overexpressing plants 7 days post fungal inoculation. The levels of ETH-related genes (EIN3 and EBF2) were similarly upregulated. The observed enhanced resistance was associated with the upregulation of SA/ETH-signaling-dependent defense genes. These findings indicate the crucial role of CYP82D47 in pathogen defense in cucumber. CYP82D47-overexpressing cucumber plants exhibited heightened susceptibility to both diseases. The study results offer important insights that could aid in the development of disease-resistant cucumber cultivars and elucidate the molecular mechanisms associated with the functions of CYP82D47.
{"title":"Overexpression of cucumber CYP82D47 enhances resistance to powdery mildew and Fusarium oxysporum f. sp. cucumerinum","authors":"Hong-yu Wang, Peng-fei Li, Yu Wang, Chun-yu Chi, Xiao-xia Jin, Guo-hua Ding","doi":"10.1007/s10142-024-01287-1","DOIUrl":"10.1007/s10142-024-01287-1","url":null,"abstract":"<div><p>Cytochrome P450s are a large family of protein-encoding genes in plant genomes, many of which have not yet been comprehensively characterized. Here, a novel P450 gene, <i>CYP82D47</i>, was isolated and functionally characterized from cucumber (<i>Cucumis sativus</i> L.). Quantitative real-time reverse-transcription polymerase chain reaction analysis revealed that <i>CYP82D47</i> expression was triggered by salicylic acid (SA) and ethephon (ETH). Expression analysis revealed a correlation between <i>CYP82D47</i> transcript levels and plant defense responses against powdery mildew (PM) and <i>Fusarium oxysporum</i> f. sp<i>. cucumerinum</i> (Foc). Although no significant differences were observed in disease resistance between <i>CYP82D47</i>-RNAi and wild-type cucumber, overexpression (OE) of <i>CYP82D47</i> enhanced PM and Foc resistance in cucumber. Furthermore, the expression levels of SA-related genes (<i>PR1</i>, <i>PR2</i>, <i>PR4</i>, and <i>PR5</i>) increased in <i>CYP82D47</i>-overexpressing plants 7 days post fungal inoculation. The levels of ETH-related genes (<i>EIN3</i> and <i>EBF2</i>) were similarly upregulated. The observed enhanced resistance was associated with the upregulation of SA/ETH-signaling-dependent defense genes. These findings indicate the crucial role of <i>CYP82D47</i> in pathogen defense in cucumber. <i>CYP82D47</i>-overexpressing cucumber plants exhibited heightened susceptibility to both diseases. The study results offer important insights that could aid in the development of disease-resistant cucumber cultivars and elucidate the molecular mechanisms associated with the functions of <i>CYP82D47</i>.</p></div>","PeriodicalId":574,"journal":{"name":"Functional & Integrative Genomics","volume":"24 1","pages":""},"PeriodicalIF":3.9,"publicationDate":"2024-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139484698","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}