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Effects of SvAPETALA1-5 gene on floral organ development in Senecio vulgaris. SvAPETALA1-5 基因对庸俗番泻叶花器官发育的影响
Q3 Medicine Pub Date : 2024-09-01 DOI: 10.16288/j.yczz.24-147
Yu-Na Zhang, Yan-Min Hao, Min-Long Cui, Chun-Lan Piao

Asteraceae is a large class of eudicots with complex capitulum, and little is known regarding the molecular regulation mechanism of flower development. APETALA1(AP1) belongs to the MADS-box gene family and plays a key role in plant floral induction and floral organ development. In this study, the bioinformatics and tissue-specific expression of AP1 homologous gene SvAP1-5 in Senecio vulgaris were analyzed. Based on VIGS technology, SvAP1-5 gene silencing plants were created, and SvAP1-5 was overexpressed in Solanum nigrum. The results of bioinformatics analysis showed that SvAP1-5 gene had typical MADS-box and K-box structure, and contains FUL motif and paleoAP1 motif at the C-terminal. SvAP1-5 belongs to the euFUL branch of AP1 gene. qRT-PCR results showed that SvAP1-5 was expressed in bracts, petals and carpels, and was highly expressed in carpels. Compared with the control group, SvAP1-5 gene silencing resulted in irregular petal dehiscence, increased stigma division, and carpel dysplasia. The fruit development of SvAP1-5 overexpressing S.nigrum plants was abnormal, and the hyperplastic tissue similar to fruit appeared. In summary, SvAP1-5 gene may be involved in the development of petals and carpels and plays an important role during the development of S.vulgaris.

菊科(Asteraceae)是一种头状花序复杂的大型裸子植物,人们对其花发育的分子调控机制知之甚少。APETALA1(AP1)属于MADS-box基因家族,在植物花诱导和花器官发育中起着关键作用。本研究分析了AP1同源基因SvAP1-5的生物信息学和组织特异性表达。基于 VIGS 技术,创建了 SvAP1-5 基因沉默植株,并在黑茄属植物中过表达 SvAP1-5。生物信息学分析结果表明,SvAP1-5基因具有典型的MADS-box和K-box结构,C端含有FUL基序和paleoAP1基序。qRT-PCR 结果显示,SvAP1-5 在苞片、花瓣和心皮中均有表达,且在心皮中高表达。与对照组相比,沉默 SvAP1-5 基因会导致花瓣不规则开裂、柱头分裂增加和心皮发育不良。过表达 SvAP1-5 的黑奴果实发育异常,出现类似果实的增生组织。综上所述,SvAP1-5 基因可能参与了花瓣和心皮的发育,并在西番莲的发育过程中发挥了重要作用。
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引用次数: 0
Progress on SOX9 and its enhancers in mammalian sex determination. 哺乳动物性别决定中的 SOX9 及其增强子研究进展。
Q3 Medicine Pub Date : 2024-09-01 DOI: 10.16288/j.yczz.24-146
Min Yang, Si-Yuan Lin, Chang-Qi Yang, Yao-Sheng Chen, Zu-Yong He

The sex determination in mammals refers to the development of an initial bipotential organ, termed the bipotential gonad/genital ridge, into either a testis or an ovary at the early stages of embryonic development, under the precise regulation of transcription factors. SOX9 (SRY-box transcription factor 9) is a multifunctional transcription factor in mammalian development and plays a critical role in sex determination and subsequent male reproductive organs development. Recent studies have shown that several enhancers upstream of SOX9 also play an important role in the process of sex determination. In this review, we summarize the progress on the role of SOX9 and its gonadal enhancers in sex determination. This review will facilitate to understand the regulatory mechanism of sex determination of SOX9 and provides a theoretical basis for the further development of animal sex manipulation technologies.

哺乳动物的性别决定是指在胚胎发育的早期阶段,在转录因子的精确调控下,最初的双潜能器官(称为双潜能性腺/生殖脊)发育成睾丸或卵巢。SOX9(SRY-box 转录因子 9)是哺乳动物发育过程中的多功能转录因子,在性别决定和随后的雄性生殖器官发育过程中起着关键作用。最近的研究表明,SOX9 上游的几个增强子在性别决定过程中也起着重要作用。在这篇综述中,我们总结了 SOX9 及其性腺增强子在性别决定中作用的研究进展。这篇综述将有助于理解SOX9性别决定的调控机制,并为动物性别操纵技术的进一步发展提供理论依据。
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引用次数: 0
Genetic diseases are not necessarily inherited: suggestion on its Chinese translation. 遗传病不一定会遗传:关于其中文翻译的建议。
Q3 Medicine Pub Date : 2024-09-01 DOI: 10.16288/j.yczz.24-199
Pan-Hui Tian, Yue Xu, Yong-Qing Zhang, Tian-Yun Wang

From Mendel's discovery of the basic laws of genetics in 1865 to the widespread application of genomics in medicine today, medical genetics has made enormous progress, and the concept of genetic diseases has also been evolved. In 1972, the World Health Organization (WHO) expert group began to use "Genetic Disease" to define hereditary diseases, while early Chinese genetics textbooks used "inferior inheritance", and later introduced terms such as "Genetic Disease" and "Inherited Disease". In the early days, it was generally believed that genetic diseases were inherited from ancestors. However, research in recent years has found that genetic diseases are not necessarily inherited, and some diseases are actually caused by de novo mutations in the offspring. Although the occurrence of this type of genetic disease is related to genetic factors, it is not inherited from ancestors. If we still use "Inherited Disease" or "Hereditary Disease" to describe it, it is not accurate enough. In order to further standardize the translation and use of the concept of "Genetic Disease", this article briefly reviews its development process in both English and Chinese literature, discusses the difference between different Chinese translations, and provides guidance and suggestions for scientifically and accurately describing genetic diseases in Chinese, with a view to promote efficient exchange and cooperation in the field of medical genetics.

从 1865 年孟德尔发现遗传学基本规律到今天基因组学在医学上的广泛应用,医学遗传学取得了巨大进步,遗传病的概念也在不断发展。1972 年,世界卫生组织(WHO)专家组开始使用 "遗传病 "来定义遗传病,而中国早期的遗传学教科书则使用 "劣性遗传",后来又引入了 "遗传病"、"遗传病 "等术语。早期,人们普遍认为遗传病是由祖先遗传的。然而,近年来的研究发现,遗传病并不一定会遗传,有些疾病实际上是由后代的从头突变引起的。虽然这类遗传病的发生与遗传因素有关,但并不是从祖先那里遗传下来的。如果还用 "遗传病 "或 "遗传性疾病 "来描述,就不够准确了。为了进一步规范 "Genetic Disease "概念的翻译和使用,本文简要回顾了其在中英文文献中的发展过程,探讨了不同中文译法之间的差异,为科学、准确地用中文描述遗传病提供了指导和建议,以期促进医学遗传学领域的高效交流与合作。
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引用次数: 0
Application effectiveness of "Youxin-1" in genetic diversity and structure analysis of local chickens. 优新 1 号 "在地方鸡遗传多样性和结构分析中的应用效果。
Q3 Medicine Pub Date : 2024-08-01 DOI: 10.16288/j.yczz.24-068
Meng-Yu Wang, Cheng-Hao Zhou, Qian Xue, Jian-Mei Yin, Yi-Xiu Jiang, Hui-Yong Zhang, Guo-Hui Li, Wei Han

China's local chicken breeds are rich in resources, and have formed different germplasm characteristics in the process of long-term selection and evolution. Scientific assessment of population genetic diversity and identification of inter-breed genetic structure are of great value to the protection and innovative utilization of local chicken breed resource. In order to evaluate the application effectiveness of 23K SNP chip "Youxin-1" in the analysis of genetic diversity and genetic structure of local chickens, we used RADseq to identify genomic genetic variation of 21 local chicken breeds and developed 23K chip "Youxin-1". The genetic statistics of each variety were calculated based on two sets of SNP data, and correlation, fitting and phylogenetic analysis were carried out to evaluate the application effectiveness of the chip. The results showed that the observed heterozygosity (Ho), polymorphism information content (PIC), inbred coefficient (FROH) and genetic differentiation coefficient (Fst) calculated based on the two SNP data sets were basically consistent in the 21 local chicken breeds. The genetic diversity of Langya chicken (LA), Piao chicken (PJ) and Wenchang chicken (WC) was relatively rich. The genetic diversity of Bian chickens (BJ), Langshan chickens (LS), Gushi chickens (GS), Dongxiang blue-eggshell chickens (DX) and Beijing fatty chickens (BY) was relatively poor, and the correlation coefficients of Ho, PIC, FROH and average Fst in the two groups were 0.794, 0.901, 0.926 and 0.984, respectively, all reaching extremely significant levels (P<0.01) with a high degree of fit (P<0.001) and R2 were 0.644, 0.827, 0.916 and 0.927. For the two sets of SNP data, the evolutionary tree constructed by neighbor-joining (NJ) method and maximum likelihood (ML) method was reasonable, and the 21 local chicken breeds were generally divided into six categories, which was consistent with the formation history and geographical distribution of the varieties. The 23K chip also realized reasonable clustering of the five new varieties without individual deviation. There are some differences in the estimation of genetic statistics using SNP with different densities, and data standardization is needed. 23K chip has good efficacy in the analysis of genetic diversity and structure of local chickens.

我国地方鸡品种资源丰富,在长期的选择和进化过程中形成了不同的种质特征。科学评估种群遗传多样性、鉴定种间遗传结构,对地方鸡品种资源的保护和创新利用具有重要价值。为了评估 23K SNP 芯片 "友信-1 "在地方鸡遗传多样性和遗传结构分析中的应用效果,我们利用 RADseq 鉴定了 21 个地方鸡品种的基因组遗传变异,并开发了 23K 芯片 "友信-1"。根据两组 SNP 数据计算了各品种的遗传统计数据,并进行了相关分析、拟合分析和系统发育分析,以评价芯片的应用效果。结果表明,基于两组SNP数据计算的21个地方鸡种的观察杂合度(Ho)、多态性信息含量(PIC)、近交系数(FROH)和遗传分化系数(Fst)基本一致。琅琊鸡(LA)、飘鸡(PJ)和文昌鸡(WC)的遗传多样性相对丰富。卞鸡(BJ)、谅山鸡(LS)、固始鸡(GS)、东乡蓝壳鸡(DX)和北京肥鸡(BY)的遗传多样性相对较差,两组的 Ho、PIC、FROH 和平均 Fst 的相关系数分别为 0.794、0.901、0.926 和 0.984,均达到极显著水平(PPR2 分别为 0.644、0.827、0.916 和 0.927)。对于两组 SNP 数据,用邻接法(NJ)和最大似然法(ML)构建的进化树是合理的,21 个地方鸡品种总体上分为 6 类,与品种的形成历史和地理分布相一致。23K 芯片也实现了对 5 个新品种的合理聚类,没有出现个别偏差。使用不同密度的 SNP 估算遗传统计数据存在一定差异,需要进行数据标准化。23K 芯片在分析地方鸡的遗传多样性和遗传结构方面具有良好的效果。
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引用次数: 0
Functional roles of the interaction of Moa1 with CENP-C and Rec8 in meiosis of Schizosaccharomyces pombe. Moa1与CENP-C和Rec8的相互作用在小鼠减数分裂中的功能作用
Q3 Medicine Pub Date : 2024-08-01 DOI: 10.16288/j.yczz.24-035
Yu Min, Zi-Han Ni, Ling-Ling Ma, Yoshinori Watanabe

The localization of the meiotic specific regulatory molecule Moa1 to the centromere is regulated by the kinetochore protein CENP-C, and participates in the cohesion of sister chromatids in the centromere region mediated by the cohesin Rec8. To examine the interaction of these proteins, we analyzed the interactions between Moa1 and Rec8, CENP-C by yeast two-hybrid assays and identified several amino acid residues in Moa1 required for the interaction with CENP-C and Rec8. The results revealed that the interaction between Moa1 and CENP-C is crucial for the Moa1 to participate in the regulation of monopolar attachment of sister kinetochores. However, mutation at S143 and T150 of Moa1, which are required for interaction with Rec8 in the two-hybrid assay, did not show significant defects. Mutations in amino acid residues may not be sufficient to interfere with the interaction between Moa1 and Rec8 in vivo. Further research is needed to determine the interaction domain between Moa1 and Rec8. This study revealed specific amino acid sites at which Moa1 affects the meiotic homologous chromosome segregation, providing a deeper understanding of the mechanism of meiotic chromosome segregation.

减数分裂特异性调控分子Moa1在中心粒的定位受到动点核蛋白CENP-C的调控,并参与由内聚蛋白Rec8介导的中心粒区域姐妹染色单体的内聚。为了研究这些蛋白之间的相互作用,我们通过酵母双杂交实验分析了Moa1与Rec8、CENP-C之间的相互作用,并确定了Moa1与CENP-C和Rec8相互作用所需的几个氨基酸残基。结果发现,Moa1与CENP-C的相互作用对于Moa1参与调控姐妹动点的单极附着至关重要。然而,在双杂交试验中,Moa1与Rec8相互作用所需的S143和T150突变并没有显示出明显的缺陷。氨基酸残基的突变可能不足以干扰 Moa1 与 Rec8 在体内的相互作用。要确定 Moa1 和 Rec8 之间的相互作用域,还需要进一步的研究。本研究揭示了Moa1影响减数分裂期同源染色体分离的特定氨基酸位点,从而加深了对减数分裂期染色体分离机制的理解。
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引用次数: 0
Heterosis formation mechanism, prediction methods, and their application and prospect in pig production. 杂交形成机制、预测方法及其在养猪生产中的应用和前景。
Q3 Medicine Pub Date : 2024-08-01 DOI: 10.16288/j.yczz.24-137
Jia-Hua Zhu, Jun-Nan Shen, Xu-Dong Yi, Ru Li, He Yu, Rong-Rong Ding, Wei-Jun Pang

Heterosis is the phenomenon that the hybrid offspring outperform two-parent population. Hybridisation has been widely used in plant and animal production as it effectively improves the growth and developmental performance, reproductive performance and disease resistance of the offspring. Hybridization can effectively improve the growth and development performance, reproductive performance and disease resistance of offspring, so it is widely used in animal and plant production. Researchers have used cross-breeding techniques to cultivate excellent new agricultural and animal husbandry strains and supporting lines such as super-excellent Chaoyou 1000 hybrid rice, Xiaoyan No.6 hybrid wheat, Dumeng sheep, and Shanxia black pigs. However, there are still some urgent problems in the current hybrid dominance research: the existing hybrid dominance theory can only partially explain the phenomenon of plant and animal hybrid dominance, and the theory of animal hybrid dominance is less researched, and the accuracy of the existing hybrid dominance prediction methods is limited. China is the world's largest pork production and consumption country. Heterosis can effectively improve the production performance of pigs, and its application in the pig industry has important economic and research value. However, the existing research on pig hybrid production is in its infancy and needs to be further studied. In this review, we summarize the existing heterosis theory, heterosis prediction methods, and their application in pig production, to provide a reference for the application of heterosis in pig breeding.

杂交是指杂交后代优于双亲群体的现象。杂交能有效提高后代的生长发育性能、繁殖性能和抗病能力,因此被广泛应用于动植物生产中。杂交能有效提高后代的生长发育性能、繁殖性能和抗病能力,因此被广泛应用于动植物生产中。科研人员利用杂交育种技术培育出了超优 1000 杂交水稻、小燕 6 号杂交小麦、杜蒙绵羊、山下黑猪等农牧业优良新品系和配套系。然而,目前杂交优势研究还存在一些亟待解决的问题:现有杂交优势理论只能部分解释动植物杂交优势现象,对动物杂交优势理论研究较少,现有杂交优势预测方法准确性有限。中国是世界上最大的猪肉生产国和消费国。杂交能有效提高猪的生产性能,其在养猪业中的应用具有重要的经济价值和研究价值。然而,现有的猪杂交生产研究尚处于起步阶段,有待进一步研究。本综述总结了现有的杂交理论、杂交预测方法及其在养猪生产中的应用,为杂交在养猪育种中的应用提供参考。
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引用次数: 0
Molecular genetics and research progress of uterine leiomyosarcoma. 子宫白肌瘤的分子遗传学和研究进展。
Q3 Medicine Pub Date : 2024-08-01 DOI: 10.16288/j.yczz.24-132
Chen-Ying Wang, Hui-Yin Xiao, Zhi-Peng Zhu, Su-Ya Zheng, Liang Xu, Ye Chen

Uterine leiomyosarcoma (uLMS) is a type of malignant soft-tissue tumor, which is developed from myometrium in the female reproductive system. This disease is difficult to be distinguished from benign uterine leiomyoma in the early stages, but it progresses aggressively and relentlessly. Hence, uLMS has a dismal prognosis and high rates of both misdiagnosis and missed diagnosis. Unfortunately, current studies of uLMS pathogenesis and disease biology are inadequate. uLMS disease models are also very limited, hindering the development of effective therapeutics. In this review, we focus on the pathological molecular biology of uLMS, and systematically review the molecular genetic features, epigenetic variants, experimental models, and clinical research progress of uLMS. We further discuss the development direction and potential needs of uLMS in the fields of tumor evolution, tumor microenvironment, and tumor therapy, with the aim of providing a better understanding of the pathobiological mechanism of uLMS and providing a reference for the development of potential diagnostic and therapeutic strategies.

子宫肌层肉瘤(uLMS)是一种恶性软组织肿瘤,由女性生殖系统中的子宫肌层发展而来。这种疾病在早期很难与良性子宫良性肌瘤区分开来,但它的发展具有侵袭性和无情性。因此,uLMS 的预后很差,误诊率和漏诊率都很高。遗憾的是,目前对uLMS发病机制和疾病生物学的研究尚不充分,uLMS疾病模型也非常有限,阻碍了有效疗法的开发。在这篇综述中,我们聚焦于uLMS的病理分子生物学,系统回顾了uLMS的分子遗传特征、表观遗传变异、实验模型和临床研究进展。我们进一步探讨了uLMS在肿瘤演化、肿瘤微环境和肿瘤治疗等领域的发展方向和潜在需求,旨在更好地理解uLMS的病理生物学机制,为开发潜在的诊断和治疗策略提供参考。
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引用次数: 0
EC number prediction of protein sequences based on combination of hierarchical and global features. 基于层次和全局特征组合的蛋白质序列 EC 编号预测。
Q3 Medicine Pub Date : 2024-08-01 DOI: 10.16288/j.yczz.24-102
Fan Yang, Qiao-Ling Han, Wen-di Zhao, Yue Zhao

The identification of enzyme functions plays a crucial role in understanding the mechanisms of biological activities and advancing the development of life sciences. However, existing enzyme EC number prediction methods did not fully utilize protein sequence information and still had shortcomings in identification accuracy. To address this issue, we proposed an EC number prediction network using hierarchical features and global features (ECPN-HFGF). This method first utilized residual networks to extract generic features from protein sequences, and then employed hierarchical feature extraction modules and global feature extraction modules to further extract hierarchical and global features of protein sequences. Subsequently, the prediction results of both feature types were combined, and a multitask learning framework was utilized to achieve accurate prediction of enzyme EC numbers. Experimental results indicated that the ECPN-HFGF method performed best in the task of predicting EC numbers for protein sequences, achieving macro F1 and micro F1 scores of 95.5% and 99.0%, respectively. The ECPN-HFGF method effectively combined hierarchical and global features of protein sequences, allowing for rapid and accurate EC number prediction. Compared to current commonly used methods, this method offers significantly higher prediction accuracy, providing an efficient approach for the advancement of enzymology research and enzyme engineering applications.

酶功能的鉴定对于理解生物活动机制和推动生命科学的发展起着至关重要的作用。然而,现有的酶EC编号预测方法没有充分利用蛋白质序列信息,在识别准确性方面仍存在不足。针对这一问题,我们提出了一种利用层次特征和全局特征的酶EC编号预测网络(ECPN-HFGF)。该方法首先利用残差网络从蛋白质序列中提取通用特征,然后利用层次特征提取模块和全局特征提取模块进一步提取蛋白质序列的层次特征和全局特征。随后,结合两种特征类型的预测结果,利用多任务学习框架实现对酶 EC 编号的准确预测。实验结果表明,ECPN-HFGF 方法在预测蛋白质序列 EC 编号的任务中表现最佳,宏观 F1 和微观 F1 分数分别达到 95.5% 和 99.0%。ECPN-HFGF方法有效地结合了蛋白质序列的层次特征和全局特征,可以快速准确地预测EC号码。与目前常用的方法相比,该方法的预测准确率显著提高,为推动酶学研究和酶工程应用提供了一种有效的方法。
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引用次数: 0
Principle and application of self-transcribing active regulatory region sequencing in enhancer discovery research. 自转录活性调控区测序在增强子发现研究中的原理和应用。
Q3 Medicine Pub Date : 2024-08-01 DOI: 10.16288/j.yczz.24-149
Ji-Long Wang, Qing Li, Ting-Zheng Zhan

Self-transcribing active regulatory region sequencing (STARR-seq) is a high-throughput sequencing method capable of simultaneously discovering and validating all enhancers within the genome. In this method, candidate sequences are inserted into plasmid vectors and electroporated into cells. Acting as both enhancers and target genes, the self-transcription of these sequences will also be enhanced by themselves. By sequencing the transcriptome and comparing the results with the non-inserted control, the locations and activity of enhancers can be determined. In traditional enhancer discovery strategies, the chromatin open regions and transcription active regions were sequenced and predicted as enhancers. However, the activity of these putative enhancers could only be validated one by one without a high-throughput method. STARR-seq solved this limitation, allowing simultaneous enhancers discovery and activity validation in a high-throughput manner. Since the introduction of STARR-seq, it has been widely used to discover enhancers and validate enhancer activity in a number of organisms and cells. In this review, we present the traditional enhancer prediction methods and the basic principles, development history, specific applications of STARR-seq, and its future prospects, aiming to provide a reference for researchers in related fields conducting enhancer studies.

自转录活性调控区测序(STARR-seq)是一种高通量测序方法,能够同时发现和验证基因组内的所有增强子。在这种方法中,候选序列被插入质粒载体并电穿孔到细胞中。这些序列既是增强子又是靶基因,其自身转录也会增强。通过对转录组进行测序,并将结果与未插入的对照进行比较,可以确定增强子的位置和活性。在传统的增强子发现策略中,染色质开放区和转录活性区被测序并预测为增强子。然而,在没有高通量方法的情况下,这些假定增强子的活性只能逐个验证。STARR-seq 解决了这一限制,可以高通量方式同时发现增强子并验证其活性。自 STARR-seq 问世以来,它已被广泛用于发现增强子,并在许多生物和细胞中验证增强子的活性。在这篇综述中,我们介绍了传统的增强子预测方法和 STARR-seq 的基本原理、发展历程、具体应用及其未来前景,旨在为相关领域的研究人员开展增强子研究提供参考。
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引用次数: 0
Effects of functional defects in the NMD pathway on rice phenotype and transcriptome. NMD 通路功能缺陷对水稻表型和转录组的影响
Q3 Medicine Pub Date : 2024-07-01 DOI: 10.16288/j.yczz.24-063
Yue-Yang Wu, Xiao-Yan Zhou, Yu-Feng Wu, Ju Huang

Nonsense-mediated mRNA decay (NMD) is an important RNA quality control pathway. It aids in degrading harmful erroneous mRNA, thereby preserving a stable and healthy internal environment. In this study, we employed CRISPR/Cas9 and amiRNA technology to generate knock out or knock down mutants of realted genes in the rice NMD pathway. Through transcriptome sequencing and observing phenotype changes, the study explored the impact of NMD pathway defects on rice gene expression and alternative splicing. The results suggest that even partial defects will induce phenotypic changes such as plant height and pollen vitality to different degrees, showing necessity of NMD factors. Gene expression analysis reveals that most differentially expressed genes are upregulated in the mutants, with ko-upf1-like and kd-upf1 defects having a more significant impact than kd-upf2 and kd-upf3. Specifically, NMD pathway defects result in increased expression levels of rice defense response-related genes and decreased expression levels of secondary metabolism-related genes, with a wider range of affected genes observed in 60-day-old senescence mutants. Transcript analysis indicates that different NMD related genes defects alter hundreds of alternative splicing events, mostly enriched in genes involving alternative splicing regulatory pathways. Approximately half of these events are shared among different mutants, and a substantial number of affected transcripts show NMD target features. NMD could affect both the transcript abundance and their splicing subtypes to regulate the defense response and early-senescence associated pathways, which plays a vital role in rice growth and reproduction.

无义介导的 mRNA 衰变(NMD)是一种重要的 RNA 质量控制途径。它有助于降解有害的错误 mRNA,从而保持稳定健康的内环境。在这项研究中,我们利用 CRISPR/Cas9 和 amiRNA 技术生成了水稻 NMD 通路中相关基因的基因敲除或基因敲低突变体。通过转录组测序和观察表型变化,该研究探讨了 NMD 通路缺陷对水稻基因表达和替代剪接的影响。结果表明,即使是部分缺陷,也会在不同程度上引起植株高度和花粉活力等表型变化,显示了 NMD 因子的必要性。基因表达分析表明,大多数差异表达基因在突变体中上调,其中 ko-upf1-like 和 kd-upf1 缺陷的影响比 kd-upf2 和 kd-upf3 更为显著。具体来说,NMD 途径缺陷导致水稻防御反应相关基因的表达水平升高,次生代谢相关基因的表达水平降低,在 60 天衰老突变体中观察到的受影响基因范围更广。转录本分析表明,不同的 NMD 相关基因缺陷改变了数百个替代剪接事件,其中大部分富集在涉及替代剪接调控途径的基因中。这些事件中约有一半是不同突变体共有的,大量受影响的转录本显示出 NMD 的目标特征。NMD 可影响转录本的丰度及其剪接亚型,从而调控防御反应和早期衰老相关途径,这对水稻的生长和繁殖起着至关重要的作用。
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