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Gapless genome assembly and population genomics highlights diversity of mango germplasms.
IF 7.6 Q1 GENETICS & HEREDITY Pub Date : 2025-04-01 DOI: 10.1093/hr/uhaf007
Cuixian Zhang, Huaifeng Yi, Xiuxu Ye, Jingxiao Fu, Dehong Xie, Tianqi Bai, Xinyue Gong, Zhangguang Ni, Xinping Luo, Yusuf Chong Yu Lok, Qiong Luo, Peng Wang
{"title":"Gapless genome assembly and population genomics highlights diversity of mango germplasms.","authors":"Cuixian Zhang, Huaifeng Yi, Xiuxu Ye, Jingxiao Fu, Dehong Xie, Tianqi Bai, Xinyue Gong, Zhangguang Ni, Xinping Luo, Yusuf Chong Yu Lok, Qiong Luo, Peng Wang","doi":"10.1093/hr/uhaf007","DOIUrl":"10.1093/hr/uhaf007","url":null,"abstract":"","PeriodicalId":57479,"journal":{"name":"园艺研究(英文)","volume":"12 4","pages":"uhaf007"},"PeriodicalIF":7.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11928152/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143765908","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Correction to: Local and systemic transcriptome and spliceome reprogramming induced by the root-knot nematode Meloidogyne incognita in tomato.
IF 7.6 Q1 GENETICS & HEREDITY Pub Date : 2025-03-04 eCollection Date: 2025-03-01 DOI: 10.1093/hr/uhaf056

[This corrects the article DOI: 10.1093/hr/uhae206.].

{"title":"Correction to: Local and systemic transcriptome and spliceome reprogramming induced by the root-knot nematode <i>Meloidogyne incognita</i> in tomato.","authors":"","doi":"10.1093/hr/uhaf056","DOIUrl":"https://doi.org/10.1093/hr/uhaf056","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.1093/hr/uhae206.].</p>","PeriodicalId":57479,"journal":{"name":"园艺研究(英文)","volume":"12 3","pages":"uhaf056"},"PeriodicalIF":7.6,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11890024/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588535","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Correction to: Potassium stimulates fruit sugar accumulation by increasing carbon flow in Citrus sinensis.
IF 7.6 Q1 GENETICS & HEREDITY Pub Date : 2025-03-04 eCollection Date: 2025-03-01 DOI: 10.1093/hr/uhaf057

[This corrects the article DOI: 10.1093/hr/uhae240.].

{"title":"Correction to: Potassium stimulates fruit sugar accumulation by increasing carbon flow in <i>Citrus sinensis</i>.","authors":"","doi":"10.1093/hr/uhaf057","DOIUrl":"10.1093/hr/uhaf057","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.1093/hr/uhae240.].</p>","PeriodicalId":57479,"journal":{"name":"园艺研究(英文)","volume":"12 3","pages":"uhaf057"},"PeriodicalIF":7.6,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11890026/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588547","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
An automatic method for estimating insect defoliation with visual highlights of consumed leaf tissue regions 一种利用消耗叶片组织区域的视觉亮点估算昆虫落叶情况的自动方法
IF 7.7 Q1 AGRICULTURE, MULTIDISCIPLINARY Pub Date : 2025-03-01 DOI: 10.1016/j.inpa.2024.03.001
Gabriel S. Vieira , Afonso U. Fonseca , Naiane Maria de Sousa , Julio C. Ferreira , Juliana Paula Felix , Christian Dias Cabacinha , Fabrizzio Soares
As an essential component of the architecture of a plant, leaves are crucial to sustaining decision-making in cultivars and effectively support agricultural processes. When the leaf area is constantly monitored, a plant’s health and productive capacity can be assessed to foment proactive and reactive strategies. Because of that, one of the most critical tasks in agricultural processes is estimating foliar damage. In this sense, we present an automatic method to estimate leaf stress caused by insect herbivory, including damage in border regions. As a novelty, we present a method with well-defined processing steps suitable for numerical analysis and visual inspection of defoliation severity. We describe the proposed method and evaluate its performance concerning 12 different plant species. Experimental results show high assertiveness in estimating leaf area loss with a concordance correlation coefficient of 0.98 for grape, soybean, potato, and strawberry leaves. A classic pattern recognition approach, named template matching, is at the core of the method whose performance is compared to cutting-edge techniques. Results demonstrated that the method achieves foliar damage quantification with precision comparable to deep learning models. The code prepared by the authors is publicly available.
{"title":"An automatic method for estimating insect defoliation with visual highlights of consumed leaf tissue regions","authors":"Gabriel S. Vieira ,&nbsp;Afonso U. Fonseca ,&nbsp;Naiane Maria de Sousa ,&nbsp;Julio C. Ferreira ,&nbsp;Juliana Paula Felix ,&nbsp;Christian Dias Cabacinha ,&nbsp;Fabrizzio Soares","doi":"10.1016/j.inpa.2024.03.001","DOIUrl":"10.1016/j.inpa.2024.03.001","url":null,"abstract":"<div><div>As an essential component of the architecture of a plant, leaves are crucial to sustaining decision-making in cultivars and effectively support agricultural processes. When the leaf area is constantly monitored, a plant’s health and productive capacity can be assessed to foment proactive and reactive strategies. Because of that, one of the most critical tasks in agricultural processes is estimating foliar damage. In this sense, we present an automatic method to estimate leaf stress caused by insect herbivory, including damage in border regions. As a novelty, we present a method with well-defined processing steps suitable for numerical analysis and visual inspection of defoliation severity. We describe the proposed method and evaluate its performance concerning 12 different plant species. Experimental results show high assertiveness in estimating leaf area loss with a concordance correlation coefficient of 0.98 for grape, soybean, potato, and strawberry leaves. A classic pattern recognition approach, named template matching, is at the core of the method whose performance is compared to cutting-edge techniques. Results demonstrated that the method achieves foliar damage quantification with precision comparable to deep learning models. The code prepared by the authors is publicly available.</div></div>","PeriodicalId":53443,"journal":{"name":"Information Processing in Agriculture","volume":"12 1","pages":"Pages 40-53"},"PeriodicalIF":7.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140084130","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Technologies, Protocols, and applications of Internet of Things in greenhouse Farming: A survey of recent advances 温室种植中的物联网技术、协议和应用:最新进展概览
IF 7.7 Q1 AGRICULTURE, MULTIDISCIPLINARY Pub Date : 2025-03-01 DOI: 10.1016/j.inpa.2024.04.002
Khalid M. Hosny , Walaa M. El-Hady , Farid M. Samy
Greenhouse farming is considered one of the precision and sustainable forms of smart agriculture. Although greenhouse gases can support off-season crops inside the indoor environment, monitoring, controlling, and managing crop parameters at greenhouse farms more precisely and securely is necessary, even in harsh climate regions. The evolving Internet of Things (IoT) technologies, including smart sensors, devices, network topologies, big data analytics, and intelligent decision-making, are thought to be the solution for automating greenhouse farming parameters like internal atmosphere control, irrigation control, crop growth monitoring, and so on. This paper introduces a comprehensive survey of recent advances in IoT-based greenhouse farming. We summarize the related review articles. The classification of greenhouse farming based on IoT (smart greenhouse, hydroponics greenhouse, and vertical farming) is introduced. Also, we present a detailed architecture for the components of greenhouse agriculture applications based on IoT, including physical devices, communication protocols, and cloud/fog computing technologies. We also present a classification of IoT applications of greenhouse farming, including monitoring, controlling, tracking, and predicting. Furthermore, we present the technical and resource management challenges for optimal greenhouse farming. Moreover, countries already applying IoT in greenhouse farming have been presented. Lastly, future suggestions related to IoT-based greenhouse farming have been introduced.
{"title":"Technologies, Protocols, and applications of Internet of Things in greenhouse Farming: A survey of recent advances","authors":"Khalid M. Hosny ,&nbsp;Walaa M. El-Hady ,&nbsp;Farid M. Samy","doi":"10.1016/j.inpa.2024.04.002","DOIUrl":"10.1016/j.inpa.2024.04.002","url":null,"abstract":"<div><div>Greenhouse farming is considered one of the precision and sustainable forms of smart agriculture. Although greenhouse gases can support off-season crops inside the indoor environment, monitoring, controlling, and managing crop parameters at greenhouse farms more precisely and securely is necessary, even in harsh climate regions. The evolving Internet of Things (IoT) technologies, including smart sensors, devices, network topologies, big data analytics, and intelligent decision-making, are thought to be the solution for automating greenhouse farming parameters like internal atmosphere control, irrigation control, crop growth monitoring, and so on. This paper introduces a comprehensive survey of recent advances in IoT-based greenhouse farming. We summarize the related review articles. The classification of greenhouse farming based on IoT (smart greenhouse, hydroponics greenhouse, and vertical farming) is introduced. Also, we present a detailed architecture for the components of greenhouse agriculture applications based on IoT, including physical devices, communication protocols, and cloud/fog computing technologies. We also present a classification of IoT applications of greenhouse farming, including monitoring, controlling, tracking, and predicting. Furthermore, we present the technical and resource management challenges for optimal greenhouse farming. Moreover, countries already applying IoT in greenhouse farming have been presented. Lastly, future suggestions related to IoT-based greenhouse farming have been introduced.</div></div>","PeriodicalId":53443,"journal":{"name":"Information Processing in Agriculture","volume":"12 1","pages":"Pages 91-111"},"PeriodicalIF":7.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140773497","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A deep learning framework for prediction of crop yield in Australia under the impact of climate change 预测气候变化影响下澳大利亚作物产量的深度学习框架
IF 7.7 Q1 AGRICULTURE, MULTIDISCIPLINARY Pub Date : 2025-03-01 DOI: 10.1016/j.inpa.2024.04.004
Haydar Demirhan
Accurate prediction of crop yields is essential to ensure food security. In this study, a new deep neural networks framework is developed to predict crop yields in Australia, considering the impact of climate change, fertilizer use, and crop area. It is implemented for oats, corn, rice, and wheat crops, and its forecasting performance is benchmarked against five statistical and machine learning methods. All the software codes for the implementation of the proposed framework are freely available. The proposed framework shows the highest forecasting performance for all the considered crop types. It provides 23%, 38%, 39%, and 40% lower average mean absolute error than the benchmark methods for oat, corn, rice, and wheat crops, respectively. The reductions in average root mean squared error are 19%, 25%, 37%, and 29% over the benchmark methods. Then, it is used to predict yields of the considered crops in Australia towards 2025 under six different climate change scenarios. It is observed that although climate change has some boosting impact on crop yield, it is not sustainable to meet the demand. However, it is possible to keep crop yields rising while mitigating climate change.
{"title":"A deep learning framework for prediction of crop yield in Australia under the impact of climate change","authors":"Haydar Demirhan","doi":"10.1016/j.inpa.2024.04.004","DOIUrl":"10.1016/j.inpa.2024.04.004","url":null,"abstract":"<div><div>Accurate prediction of crop yields is essential to ensure food security. In this study, a new deep neural networks framework is developed to predict crop yields in Australia, considering the impact of climate change, fertilizer use, and crop area. It is implemented for oats, corn, rice, and wheat crops, and its forecasting performance is benchmarked against five statistical and machine learning methods. All the software codes for the implementation of the proposed framework are freely available. The proposed framework shows the highest forecasting performance for all the considered crop types. It provides 23%, 38%, 39%, and 40% lower average mean absolute error than the benchmark methods for oat, corn, rice, and wheat crops, respectively. The reductions in average root mean squared error are 19%, 25%, 37%, and 29% over the benchmark methods. Then, it is used to predict yields of the considered crops in Australia towards 2025 under six different climate change scenarios. It is observed that although climate change has some boosting impact on crop yield, it is not sustainable to meet the demand. However, it is possible to keep crop yields rising while mitigating climate change.</div></div>","PeriodicalId":53443,"journal":{"name":"Information Processing in Agriculture","volume":"12 1","pages":"Pages 125-138"},"PeriodicalIF":7.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140761172","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A reliable, simple and cost-efficient UPLC-vwd method for simultaneously determining tocopherol and tocotrienol in peanut seeds
Q3 Agricultural and Biological Sciences Pub Date : 2025-03-01 DOI: 10.1016/j.ocsci.2025.02.002
Zekai Tian , Yue Zhang , Chenshuo Sun , Liying Yan , Yanping Kang , Dongxin Huai , Yuning Chen , Xin Wang , Qianqian Wang , Huifang Jiang , Boshou Liao , Zhihui Wang , Yong Lei
Vitamin E is an essential micronutrient that is abundant in peanut seeds. However, the absence of a rapid and reliable method for determining its content has impeded advancements in peanut quality improvement. In this study, we developed an efficient ultra-performance liquid chromatography variable wavelength detector (UPLC-vwd) method for quantifying vitamin E content in peanut seeds, capable of detecting four tocopherols and four tocotrienols. Compared to traditional methods, this approach is simpler, more efficient, and highly accurate. By comparing two sample preparation techniques, it was found that slicing better reflects the true vitamin E content than grinding, as it minimizes losses caused by mechanical pressure. The method demonstrated robust stability and accuracy in both repeatability tests and spiked recovery tests, showing no significant differences compared to the national standard method. The study revealed that the cotyledons of peanuts are the primary storage site for vitamin E, being rich in γ- and α-tocopherols, which together account for over 90°% of the total vitamin E content. In contrast, the vitamin E content in the seed coat is considerably lower. Therefore, the optimized detection method minimizes seed coat interference during sample preparation, ensuring the accuracy of the results. In summary, the UPLC-vwd method developed in this study is a promising tool for determining vitamin E content and supports the improvement of peanut quality.
{"title":"A reliable, simple and cost-efficient UPLC-vwd method for simultaneously determining tocopherol and tocotrienol in peanut seeds","authors":"Zekai Tian ,&nbsp;Yue Zhang ,&nbsp;Chenshuo Sun ,&nbsp;Liying Yan ,&nbsp;Yanping Kang ,&nbsp;Dongxin Huai ,&nbsp;Yuning Chen ,&nbsp;Xin Wang ,&nbsp;Qianqian Wang ,&nbsp;Huifang Jiang ,&nbsp;Boshou Liao ,&nbsp;Zhihui Wang ,&nbsp;Yong Lei","doi":"10.1016/j.ocsci.2025.02.002","DOIUrl":"10.1016/j.ocsci.2025.02.002","url":null,"abstract":"<div><div>Vitamin E is an essential micronutrient that is abundant in peanut seeds. However, the absence of a rapid and reliable method for determining its content has impeded advancements in peanut quality improvement. In this study, we developed an efficient ultra-performance liquid chromatography variable wavelength detector (UPLC-vwd) method for quantifying vitamin E content in peanut seeds, capable of detecting four tocopherols and four tocotrienols. Compared to traditional methods, this approach is simpler, more efficient, and highly accurate. By comparing two sample preparation techniques, it was found that slicing better reflects the true vitamin E content than grinding, as it minimizes losses caused by mechanical pressure. The method demonstrated robust stability and accuracy in both repeatability tests and spiked recovery tests, showing no significant differences compared to the national standard method. The study revealed that the cotyledons of peanuts are the primary storage site for vitamin E, being rich in γ- and α-tocopherols, which together account for over 90°% of the total vitamin E content. In contrast, the vitamin E content in the seed coat is considerably lower. Therefore, the optimized detection method minimizes seed coat interference during sample preparation, ensuring the accuracy of the results. In summary, the UPLC-vwd method developed in this study is a promising tool for determining vitamin E content and supports the improvement of peanut quality.</div></div>","PeriodicalId":34095,"journal":{"name":"Oil Crop Science","volume":"10 1","pages":"Pages 70-78"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143760507","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genome-wide identification and expression analysis of cytochrome P450 gene family in Macrobrachium nipponense
Q1 Agricultural and Biological Sciences Pub Date : 2025-03-01 DOI: 10.1016/j.aaf.2023.12.004
Xiao Wu , Zheyan Chen , Yaoran Fan , Jianbin Feng , Jiale Li
Cytochrome P450 (CYP450) is a superfamily widely found in various biological organisms, including animals, plants, and microorganisms. CYP450 is involved in the metabolism of endogenous and exogenous substances. In addition, a few CYP450 genes named as Halloween genes (CYP302a1, CYP307a1, etc.) are associated with the synthesis and secretion of ecdysone in Arthropods. Macrobrachium nipponense (Arthropoda, Crustacean) has many excellent breeding characteristics; for example, rapid growth rate, ability to survive in a variety of environments and high economic value. In order to further explored the structure and function of CYP450, a genome-wide analysis of CYP450 gene family was performed in M. nipponense. A total of 67 CYP450 genes were identified, and extensive bioinformatic analysis methods were conducted, including physicochemical property, sequence alignment, evolutionary tree construction, conserved sequence, chromosome localization, protein-protein interactions, and quantitative expression. The results showed that most CYP450 genes being around 500 amino acids, with 25 tandem repeats genes. The majority of CYP450 genes have the signature structure of the CYP450 gene family to ensure the stability of the spatial structure and the ability to bind substrates. The Halloween genes and CYP18a1 sequences are similar and occupy an importance role in M. nipponense. Finally, most CYP450 genes were up-regulated in gill and hepatopancreas of M. nipponense under acute high temperature stress, with significant up-regulation of Halloween gene expression. This study could further deepen the understanding of the structure and function of CYP450 in M. nipponense and investigate the role of CYP450 in freshwater crustaceans under high temperatures.
{"title":"Genome-wide identification and expression analysis of cytochrome P450 gene family in Macrobrachium nipponense","authors":"Xiao Wu ,&nbsp;Zheyan Chen ,&nbsp;Yaoran Fan ,&nbsp;Jianbin Feng ,&nbsp;Jiale Li","doi":"10.1016/j.aaf.2023.12.004","DOIUrl":"10.1016/j.aaf.2023.12.004","url":null,"abstract":"<div><div>Cytochrome P450 (CYP450) is a superfamily widely found in various biological organisms, including animals, plants, and microorganisms. CYP450 is involved in the metabolism of endogenous and exogenous substances. In addition, a few CYP450 genes named as Halloween genes (CYP302a1, CYP307a1, etc.) are associated with the synthesis and secretion of ecdysone in Arthropods. <em>Macrobrachium nipponense</em> (Arthropoda, Crustacean) has many excellent breeding characteristics; for example, rapid growth rate, ability to survive in a variety of environments and high economic value. In order to further explored the structure and function of CYP450, a genome-wide analysis of CYP450 gene family was performed in <em>M. nipponense</em>. A total of 67 CYP450 genes were identified, and extensive bioinformatic analysis methods were conducted, including physicochemical property, sequence alignment, evolutionary tree construction, conserved sequence, chromosome localization, protein-protein interactions, and quantitative expression. The results showed that most CYP450 genes being around 500 amino acids, with 25 tandem repeats genes. The majority of CYP450 genes have the signature structure of the CYP450 gene family to ensure the stability of the spatial structure and the ability to bind substrates. The Halloween genes and CYP18a1 sequences are similar and occupy an importance role in <em>M. nipponense</em>. Finally, most CYP450 genes were up-regulated in gill and hepatopancreas of <em>M. nipponense</em> under acute high temperature stress, with significant up-regulation of Halloween gene expression. This study could further deepen the understanding of the structure and function of CYP450 in <em>M. nipponense</em> and investigate the role of CYP450 in freshwater crustaceans under high temperatures.</div></div>","PeriodicalId":36894,"journal":{"name":"Aquaculture and Fisheries","volume":"10 2","pages":"Pages 228-237"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143715786","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Expert consensus on clinical genome sequencing interpretation and reporting.
Q3 Medicine Pub Date : 2025-03-01 DOI: 10.16288/j.yczz.24-296
Yulan Lu, Guozhuang Li, Yaqiong Wang, Kexin Xu, Xinran Dong, Jihao Cai, Bingbing Wu, Huijun Wang, Ping Fang, Jian Wang, Hua Wang, Luming Sun, Yongyu Ye, Qing Li, Yaping Liu, Li Liu, Ning Liu, Jiaqi Liu, Fang Song, Lin Yang, Zhengqing Qiu, Zefu Chen, Huaxia Luo, Dan Guo, Chanjuan Hao, Sen Zhao, Shangzhi Huang, Jing Peng, Xiaoqiang Cai, Ruifang Sui, Linkang Li, Nan Wu, Wenhao Zhou, Shuyang Zhang

Genome sequencing (GS) refers to a technology that comprehensively and systematically detects the DNA sequences of an individual's nuclear and mitochondrial genomes. It aims to identify genetic variants and investigate their roles in human health and disease progression. As an emerging diagnostic tool, GS offers significant support for clinical diagnosis due to its high throughput, accuracy, and comprehensiveness. However, the complexity of data analysis and interpretation requires substantial professional expertise and experience, posing considerable challenges. When applying GS technology for molecular diagnosis of genetic diseases, ethical and technical issues related to clinical application arise, including informed consent, diagnostic data interpretation, and defining the scope and content of clinical reports. This expert consensus outlines the core workflow of clinical genome sequencing (cGS), clarifies its testing scope and technical limitations, and provides key steps for data quality control, analysis, annotation, and variant interpretation. It also addresses controversial issues related to report content and informed consent. This consensus aims to assist professionals in accurately understanding and appropriately utilizing clinical genome sequencing, thereby improving diagnostic accuracy for genetic diseases, enhancing the clinical utility of the technology, and advancing medical scientific research.

{"title":"Expert consensus on clinical genome sequencing interpretation and reporting.","authors":"Yulan Lu, Guozhuang Li, Yaqiong Wang, Kexin Xu, Xinran Dong, Jihao Cai, Bingbing Wu, Huijun Wang, Ping Fang, Jian Wang, Hua Wang, Luming Sun, Yongyu Ye, Qing Li, Yaping Liu, Li Liu, Ning Liu, Jiaqi Liu, Fang Song, Lin Yang, Zhengqing Qiu, Zefu Chen, Huaxia Luo, Dan Guo, Chanjuan Hao, Sen Zhao, Shangzhi Huang, Jing Peng, Xiaoqiang Cai, Ruifang Sui, Linkang Li, Nan Wu, Wenhao Zhou, Shuyang Zhang","doi":"10.16288/j.yczz.24-296","DOIUrl":"https://doi.org/10.16288/j.yczz.24-296","url":null,"abstract":"<p><p>Genome sequencing (GS) refers to a technology that comprehensively and systematically detects the DNA sequences of an individual's nuclear and mitochondrial genomes. It aims to identify genetic variants and investigate their roles in human health and disease progression. As an emerging diagnostic tool, GS offers significant support for clinical diagnosis due to its high throughput, accuracy, and comprehensiveness. However, the complexity of data analysis and interpretation requires substantial professional expertise and experience, posing considerable challenges. When applying GS technology for molecular diagnosis of genetic diseases, ethical and technical issues related to clinical application arise, including informed consent, diagnostic data interpretation, and defining the scope and content of clinical reports. This expert consensus outlines the core workflow of clinical genome sequencing (cGS), clarifies its testing scope and technical limitations, and provides key steps for data quality control, analysis, annotation, and variant interpretation. It also addresses controversial issues related to report content and informed consent. This consensus aims to assist professionals in accurately understanding and appropriately utilizing clinical genome sequencing, thereby improving diagnostic accuracy for genetic diseases, enhancing the clinical utility of the technology, and advancing medical scientific research.</p>","PeriodicalId":35536,"journal":{"name":"遗传","volume":"47 3","pages":"314-328"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143606517","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The isolation and functional identification of a phosphoenolpyruvate carboxykinase gene from Saccharina japonica 甘蔗渣磷酸烯醇丙酮酸羧激酶基因的分离与功能鉴定
Q1 Agricultural and Biological Sciences Pub Date : 2025-03-01 DOI: 10.1016/j.aaf.2023.08.007
Peichong Lin , Yatong Yao , Lijuan Lu , Yanhui Bi , Zhigang Zhou
Similar to other macroalgae, Saccharina japonica has CO2-concentrating mechanism (CCM) that allows high photosynthesis efficiency and elevates biomass. Phosphoenolpyruvate carboxykinase (PEPCK) in cytoplasm is an essential component of CCM. However, no reports on cytosolic PEPCK of S. japonica are available. In this study, the full-length cDNA sequence of a PEPCK gene (SjPCK1) predicted to be localized in cytoplasm, was screened from the full-length transcriptome of S. japonica gametophytes and identified by RT-PCR. The complete cDNA sequence of SjPCK1 was 2174 bp in length, which encompassed an open reading frame (ORF) of 1734 bp, a 5′- untranslated region (UTR) of 216 bp and a 3′-UTR of 224 bp. In parallel, the genomic DNA of SjPCK1 was 21 294 bp in length, characterized by the presence of 11 introns and 12 exons. It encoded a protein of 577 amino acids with a molecular weight of 63 kD and an isoelectric point of 8.47. Amino acid sequence alignment showed that the functional sites of PEPCK were highly conserved in the selected species. Phylogenetic analysis and sequence characterization showed that SjPCK1 was an ATP-dependent PEPCK. SjPCK1 gene was expressed by using Escherichia coli prokaryotic expression system, and the SjPCK1 protein with His 6 tag (rSjPCK1) was 81.93 kD in molecular weight. Enzyme activity assay results showed that the specific activity of carboxylase and decarboxylase of rSjPCK1 was 1.91 ± 0.29 U/mg prog and 11.3 ± 1.97 U/mg prog, respectively. These findings provide valuable molecular and biochemical insights for a further analysis of the role of cytosolic PEPCK in the storage of inorganic carbon in S. japonica.
与其他大型藻类类似,Saccharina japonica具有co2浓缩机制(CCM),可以提高光合作用效率并提高生物量。磷酸烯醇丙酮酸羧激酶(PEPCK)是胞浆中CCM的重要组成部分。然而,目前还没有关于粳稻细胞质PEPCK的报道。本研究从粳稻配子体全长转录组中筛选了一个预测定位于细胞质中的PEPCK基因(SjPCK1)的全长cDNA序列,并通过RT-PCR进行了鉴定。SjPCK1全长2174 bp,其中开放阅读框(ORF)为1734 bp, 5′-未翻译区(UTR)为216 bp, 3′-UTR为224 bp。SjPCK1的基因组DNA长度为21 294 bp,具有11个内含子和12个外显子的特征。该蛋白编码577个氨基酸,分子量为63 kD,等电点为8.47。氨基酸序列比对表明,PEPCK的功能位点在所选种属中高度保守。系统发育分析和序列鉴定表明,SjPCK1是一个atp依赖性PEPCK。通过大肠杆菌原核表达系统表达SjPCK1基因,得到带His 6标签的SjPCK1蛋白(rSjPCK1)分子量为81.93 kD。酶活性测定结果表明,rSjPCK1羧化酶和脱羧酶的比活性分别为1.91±0.29 U/mg prog和11.3±1.97 U/mg prog。这些发现为进一步分析细胞质PEPCK在粳稻无机碳储存中的作用提供了有价值的分子和生化见解。
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