RNA最新文献_第4页

A general and biomedical perspective of viral quasispecies. 病毒准种的一般和生物医学观点。

IF 4.2 3区生物学

RNA Pub Date : 2025-02-19 DOI: 10.1261/rna.080280.124

Esteban Domingo, Brenda Martínez-González, Pilar Somovilla, Carlos García-Crespo, María Eugenia Soria, Ana Isabel de Ávila, Ignacio Gadea, Celia Perales

{"title":"A general and biomedical perspective of viral quasispecies.","authors":"Esteban Domingo, Brenda Martínez-González, Pilar Somovilla, Carlos García-Crespo, María Eugenia Soria, Ana Isabel de Ávila, Ignacio Gadea, Celia Perales","doi":"10.1261/rna.080280.124","DOIUrl":"10.1261/rna.080280.124","url":null,"abstract":"Viral quasispecies refers to the complex and dynamic mutant distributions (also termed mutant spectra, clouds, or swarms) that arise as a result of high error rates during RNA genome replication. The mutant spectrum of individual RNA virus populations is modified by continuous generation of variant genomes, competition and interactions among them, environmental influences, bottleneck events, and bloc transmission of viral particles. Quasispecies dynamics provides a new perspective on how viruses adapt, evolve, and cause disease, and sheds light on strategies to combat them. Molecular flexibility, together with ample opportunity of mutant cloud traffic in our global world, are key ingredients of viral disease emergences, as exemplified by the recent COVID-19 pandemic. In the present article, we present a brief overview of the molecular basis of mutant swarm formation and dynamics, and how the latter relates to viral disease and epidemic spread. We outline future challenges derived of the highly diverse cellular world in which viruses are necessarily installed.","PeriodicalId":21401,"journal":{"name":"RNA","volume":" ","pages":"429-443"},"PeriodicalIF":4.2,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11874995/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142847585","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

RNA-binding proteins in disease etiology: fragile X syndrome and spinal muscular atrophy. 疾病病因学中的rna结合蛋白：脆性X综合征和脊髓性肌萎缩症。

IF 4.2 3区生物学

RNA Pub Date : 2025-02-19 DOI: 10.1261/rna.080353.124

Gideon Dreyfuss

引用次数: 0

Mitochondrial tRNA modifications: functions, diseases caused by their loss, and treatment strategies. 线粒体tRNA修饰：功能，由其丢失引起的疾病，以及治疗策略。

IF 4.2 3区生物学

RNA Pub Date : 2025-02-19 DOI: 10.1261/rna.080257.124

Takeshi Chujo, Kazuhito Tomizawa

引用次数: 0

RNA sensing at the crossroads of autoimmunity and autoinflammation. 自身免疫和自身炎症十字路口的RNA传感。

IF 4.2 3区生物学

RNA Pub Date : 2025-02-19 DOI: 10.1261/rna.080304.124

Sandra G Williams, Soyeong Sim, Sandra L Wolin

引用次数: 0

RNA editing in disease: mechanisms and therapeutic potential. 疾病中的RNA编辑：机制和治疗潜力。

IF 4.2 3区生物学

RNA Pub Date : 2025-02-19 DOI: 10.1261/rna.080331.124

Kasra Honarmand Tamizkar, Michael F Jantsch

{"title":"RNA editing in disease: mechanisms and therapeutic potential.","authors":"Kasra Honarmand Tamizkar, Michael F Jantsch","doi":"10.1261/rna.080331.124","DOIUrl":"10.1261/rna.080331.124","url":null,"abstract":"Adenosine to inosine conversion by adenosine deaminases acting on RNA (ADARs) was first identified in the late 1980s of the previous century. As the conversion of adenosines to inosines can be easily detected by sequencing of cDNAs, where the presence of an inosine reads out as a guanosine, the analysis of this type of RNA editing has become widespread. Consequently, several pipelines for detecting inosines in transcriptomes have become available. Still, how to interpret the consequences and alterations of RNA-editing events in whole transciptome editomes is a matter of debate. In particular, the cause or consequence of altered editomes on disease development is poorly understood. Similarly, absolute frequencies of editing events in single molecules, their longitudinal distribution, and naturally occurring changes during development, in different tissues, or in response to physiological changes need to be explored. Lastly, while the use of site-directed RNA editing as a treatment of certain genetic diseases is rapidly evolving, the applicability of this technology still faces several technical obstacles. In this review, we describe the current state of knowledge on adenosine deamination-type RNA editing, its involvement in disease development, and its potential as a therapeutic. Lastly, we highlight open challenges and questions that need to be addressed.","PeriodicalId":21401,"journal":{"name":"RNA","volume":" ","pages":"359-368"},"PeriodicalIF":4.2,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11874977/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142922796","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Cytoplasmic regulation of the poly(A) tail length as a potential therapeutic target. Poly(A)尾长度的细胞质调控作为潜在的治疗靶点。

IF 4.2 3区生物学

RNA Pub Date : 2025-02-19 DOI: 10.1261/rna.080333.124

Mercedes Fernandez, Raul Mendez

{"title":"Cytoplasmic regulation of the poly(A) tail length as a potential therapeutic target.","authors":"Mercedes Fernandez, Raul Mendez","doi":"10.1261/rna.080333.124","DOIUrl":"10.1261/rna.080333.124","url":null,"abstract":"Virtually all mRNAs acquire a poly(A) tail cotranscriptionally, but its length is dynamically regulated in the cytoplasm in a transcript-specific manner. The length of the poly(A) tail plays a crucial role in determining mRNA translation, stability, and localization. This dynamic regulation of poly(A) tail length is widely used to create posttranscriptional gene expression programs, allowing for precise temporal and spatial control. Dysregulation of poly(A) tail length has been linked to various diseases, including cancers, inflammatory and cardiovascular disorders, and neurological syndromes. Cytoplasmic poly(A) tail length is maintained by a dynamic equilibrium between cis-acting elements and cognate factors that promote deadenylation or polyadenylation, enabling rapid gene expression reprogramming in response to internal and external cellular cues. While cytoplasmic deadenylation and its pathophysiological implications have been extensively studied, cytoplasmic polyadenylation and its therapeutic potential remain less explored. This review discusses the distribution, regulation, and mechanisms of cytoplasmic polyadenylation element-binding proteins(CPEBs), highlighting their dual roles in either promoting or repressing gene expression depending on cellular context. We also explore their involvement in diseases such as tumor progression and metastasis, along with their potential as targets for novel therapeutic strategies.","PeriodicalId":21401,"journal":{"name":"RNA","volume":" ","pages":"402-415"},"PeriodicalIF":4.2,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11874964/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142979899","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Connecting genotype and phenotype in minor spliceosome diseases.

IF 4.2 3区生物学

RNA Pub Date : 2025-02-19 DOI: 10.1261/rna.080337.124

Antto J Norppa, Mariia V Shcherbii, Mikko J Frilander

{"title":"Connecting genotype and phenotype in minor spliceosome diseases.","authors":"Antto J Norppa, Mariia V Shcherbii, Mikko J Frilander","doi":"10.1261/rna.080337.124","DOIUrl":"10.1261/rna.080337.124","url":null,"abstract":"Minor spliceosome is responsible for recognizing and excising a specific subset of divergent introns during the pre-mRNA splicing process. Mutations in the unique snRNA and protein components of the minor spliceosome are increasingly being associated with a variety of germline and somatic human disorders, collectively termed as minor spliceosomopathies. Understanding the mechanistic basis of these diseases has been challenging due to limited functional information on many minor spliceosome components. However, recently published cryo-electron microscopy (cryo-EM) structures of various minor spliceosome assembly intermediates have marked a significant advancement in elucidating the roles of these components during splicing. These structural breakthroughs have not only enhanced our comprehension of the minor spliceosome's functionality but also shed light on how disease-associated mutations disrupt its functions. Consequently, research focus is now shifting toward investigating how these splicing defects translate into broader pathological processes within gene expression pathways. Here we outline the current structural and functional knowledge of the minor spliceosome, explore the mechanistic consequences of its mutations, and discuss emerging challenges in connecting molecular dysfunctions to clinical phenotypes.","PeriodicalId":21401,"journal":{"name":"RNA","volume":"31 3","pages":"284-299"},"PeriodicalIF":4.2,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11874965/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143459383","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

eIF4F-mediated dysregulation of mRNA translation in cancer. 肿瘤中eif4f介导的mRNA翻译失调。

IF 4.2 3区生物学

RNA Pub Date : 2025-02-19 DOI: 10.1261/rna.080340.124

Mehdi Amiri, Niaz Mahmood, Soroush Tahmasebi, Nahum Sonenberg

引用次数: 0

N ⁶-methyladenosine reader YTHDF2 in cell state transition and antitumor immunity. n6 -甲基腺苷解读器YTHDF2在细胞状态转换和抗肿瘤免疫中的作用。

IF 4.2 3区生物学

RNA Pub Date : 2025-02-19 DOI: 10.1261/rna.080259.124

Liangliang Wang, Ralph R Weichselbaum, Chuan He

引用次数: 0

Trinucleotide repeat expansion and RNA dysregulation in fragile X syndrome: emerging therapeutic approaches. 脆性X综合征中的三核苷酸重复扩增和RNA失调：新兴的治疗方法。

IF 4.2 3区生物学

RNA Pub Date : 2025-02-19 DOI: 10.1261/rna.080270.124

Suna Jung, Joel D Richter

{"title":"Trinucleotide repeat expansion and RNA dysregulation in fragile X syndrome: emerging therapeutic approaches.","authors":"Suna Jung, Joel D Richter","doi":"10.1261/rna.080270.124","DOIUrl":"10.1261/rna.080270.124","url":null,"abstract":"Fragile X syndrome (FXS) is characterized by intellectual impairment caused by CGG repeat expansion in the FMR1 gene. When repeats exceed 200, they induce DNA methylation of the promoter and the repeat region, resulting in transcriptional silencing of the FMR1 gene and the subsequent loss of FMRP protein. In the past decade or so, research has focused on the role of FMRP as an RNA-binding protein involved in translation inhibition in the brain in FXS model mice, particularly by slowing or stalling ribosome translocation on mRNA. More recent advances have shown that FMRP has a profound role in RNA splicing, at least in some cases by modulating the translation of splicing factor mRNAs. In a surprise, the human FMR1 gene is transcribed in most cases even with a full CGG expansion. However, much of the FMR1 that is produced is misspliced, which can be corrected by splice-switching antisense oligonucleotide (ASO) administration. Other recent findings suggest that inhibition of multiple kinases can demethylate the FMR1 gene and induce the formation of an R-loop in the CGG repeat region, leading to contraction of the repeat and FMRP restoration. These insights are paving the way for possible future therapeutic approaches for this disorder. We highlight the importance of FMRP restoration by ASO-mediated splice switching or CGG repeat modulation as key advances that may lead to successful treatments for FXS.","PeriodicalId":21401,"journal":{"name":"RNA","volume":" ","pages":"307-313"},"PeriodicalIF":4.2,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11874960/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142897134","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0