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Spliced. 拼接。
IF 12.9 2区 生物学
Trends in Genetics Pub Date : 2026-08-01 Epub Date: 2026-07-15 DOI: 10.1016/j.tig.2026.07.003
Maria A Smit
{"title":"Spliced.","authors":"Maria A Smit","doi":"10.1016/j.tig.2026.07.003","DOIUrl":"10.1016/j.tig.2026.07.003","url":null,"abstract":"","PeriodicalId":54413,"journal":{"name":"Trends in Genetics","volume":" ","pages":"671-672"},"PeriodicalIF":12.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148457689","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Beyond housekeeping: snRNA diversity, regulation, and human disease. 管家之外：snRNA多样性、调控和人类疾病。
IF 12.9 2区 生物学
Trends in Genetics Pub Date : 2026-08-01 Epub Date: 2026-06-25 DOI: 10.1016/j.tig.2026.06.001
Vladyslava Liudkovska, Abraham de Jonge, Maciej Cieśla
{"title":"Beyond housekeeping: snRNA diversity, regulation, and human disease.","authors":"Vladyslava Liudkovska, Abraham de Jonge, Maciej Cieśla","doi":"10.1016/j.tig.2026.06.001","DOIUrl":"10.1016/j.tig.2026.06.001","url":null,"abstract":"<p><p>Recent analyses challenge the long-standing view of small nuclear RNAs (snRNAs) as largely uniform and functionally interchangeable molecules. Their genes undergo lineage-specific expansions and losses, and in humans, individual loci display striking sequence constraints. Recurrent germline and somatic mutations cluster within defined structural domains of both major and minor spliceosomal snRNAs, revealing that single nucleotides can be subjected to changes affecting function. Even subtle alterations within conserved base-pairing regions can reshape recognition of cis-regulatory elements, while regulated abundance and RNA modifications further tune splicing outcomes. Rather than acting solely as structural scaffolds, snRNAs function as dynamic RNA components that participate directly in spliceosome assembly and catalytic-site formation. In this review, we distill the emerging principles and consider their implications for development, tissue homeostasis, and human disease.</p>","PeriodicalId":54413,"journal":{"name":"Trends in Genetics","volume":" ","pages":"771-786"},"PeriodicalIF":12.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148334391","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Coordinated pre-mRNA processing at the single-transcript level. 在单转录物水平上协调前mrna加工。
IF 12.9 2区 生物学
Trends in Genetics Pub Date : 2026-08-01 Epub Date: 2026-07-07 DOI: 10.1016/j.tig.2026.06.005
Leena P Sen, Karla M Neugebauer
{"title":"Coordinated pre-mRNA processing at the single-transcript level.","authors":"Leena P Sen, Karla M Neugebauer","doi":"10.1016/j.tig.2026.06.005","DOIUrl":"10.1016/j.tig.2026.06.005","url":null,"abstract":"<p><p>Pre-mRNA undergoes extensive processing during transcription by RNA polymerase II, including splicing, folding, and 3'-end cleavage and polyadenylation. In this forum, we discuss recent studies that have devised powerful sequencing methods to detect coordination of RNA processing at the level of individual nascent transcripts.</p>","PeriodicalId":54413,"journal":{"name":"Trends in Genetics","volume":" ","pages":"680-683"},"PeriodicalIF":12.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13459127/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148406942","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
A new era for the dark genome. 黑暗基因组的新时代。
IF 12.9 2区 生物学
Trends in Genetics Pub Date : 2026-08-01 Epub Date: 2026-04-13 DOI: 10.1016/j.tig.2026.03.003
Merel Stemerdink, Dalila Capasso, Munevver Burcu Cicekdal
{"title":"A new era for the dark genome.","authors":"Merel Stemerdink, Dalila Capasso, Munevver Burcu Cicekdal","doi":"10.1016/j.tig.2026.03.003","DOIUrl":"10.1016/j.tig.2026.03.003","url":null,"abstract":"<p><p>A landmark study by Quinodoz et al. revealed that variants in noncoding small nuclear RNA genes, RNU4-2 and four RNU6 paralogs, represent a previously unrecognized cause of autosomal dominant retinitis pigmentosa. This uncovers pleiotropy in RNU4-2 variants and expands the genetic architecture of Mendelian disease into the 'dark genome'.</p>","PeriodicalId":54413,"journal":{"name":"Trends in Genetics","volume":" ","pages":"673-675"},"PeriodicalIF":12.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147677289","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Beyond the gene: decoding alternative isoforms. 超越基因：解码另类同工异构体。
IF 12.9 2区 生物学
Trends in Genetics Pub Date : 2026-08-01 Epub Date: 2025-12-11 DOI: 10.1016/j.tig.2025.11.003
Kaia Mattioli, Martha L Bulyk
{"title":"Beyond the gene: decoding alternative isoforms.","authors":"Kaia Mattioli, Martha L Bulyk","doi":"10.1016/j.tig.2025.11.003","DOIUrl":"10.1016/j.tig.2025.11.003","url":null,"abstract":"<p><p>It has been well-established that the vast majority of human genes are expressed not as a single mRNA transcript but rather as a series of many distinct mRNAs due to processes including alternative splicing, promoter use, and polyadenylation. When these transcripts differ in their coding sequences, they can be translated into alternative protein isoforms. Despite known examples of alternative isoforms that are functionally important, whether they diversify the human proteome en masse has long been debated. Recent technological advances, including long-read RNA sequencing, more sensitive proteomics, and high-throughput methods to perturb individual isoforms suggest that most alternative isoforms are expressed at the protein level, are biochemically distinct from each other, and can be associated with disease. It is therefore important to move 'beyond the gene' toward more complex, isoform-aware characterization of molecular processes.</p>","PeriodicalId":54413,"journal":{"name":"Trends in Genetics","volume":" ","pages":"684-700"},"PeriodicalIF":12.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145745837","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Domestication pressures and the rise of livestock spliceopathies. 驯化压力和牲畜剪接病的增加。
IF 12.9 2区 生物学
Trends in Genetics Pub Date : 2026-08-01 Epub Date: 2026-03-19 DOI: 10.1016/j.tig.2026.01.009
Xinyi Cai, Siyuan Wu, Justin J-L Wong, Heather J Lee, Ulf Schmitz
{"title":"Domestication pressures and the rise of livestock spliceopathies.","authors":"Xinyi Cai, Siyuan Wu, Justin J-L Wong, Heather J Lee, Ulf Schmitz","doi":"10.1016/j.tig.2026.01.009","DOIUrl":"10.1016/j.tig.2026.01.009","url":null,"abstract":"<p><p>Alternative splicing drives molecular diversity, yet livestock spliceopathies remain underrecognised despite their major economic impact. By synthesising evidence across major livestock species, we reveal how splicing defects disrupt production through recurrent patterns: splice variants in dosage-sensitive genes affect growth and fertility, breed-specific splice-regulatory changes drive disease susceptibility, and epigenetic modifications enable environmental adaptation. These patterns reflect evolutionary constraints and domestication pressures driving aberrant splicing in modern breeds. Recent technological advances enable systematic investigation and treatment: long-read sequencing uncovers hidden splicing complexity, while clustered regularly interspaced short palindromic repeats (CRISPR) and antisense oligonucleotides offer precision interventions. However, critical gaps persist in functional validation and population-scale mapping. Addressing these within the One Health framework will advance animal welfare, food security, and comparative medicine, positioning alternative splicing as a fundamental driver of phenotypic diversity.</p>","PeriodicalId":54413,"journal":{"name":"Trends in Genetics","volume":" ","pages":"757-770"},"PeriodicalIF":12.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147488302","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Emerging role of G-quadruplexes in alternative splicing regulation. g -四联体在选择性剪接调控中的新作用。
IF 12.9 2区 生物学
Trends in Genetics Pub Date : 2026-08-01 Epub Date: 2026-06-04 DOI: 10.1016/j.tig.2026.05.001
Aline Peynet, Ronan Le Sénéchal, Marc Keruzoré, Pauline Lejault, Alicia Quillévéré, Nadège Loaëc, Nena Martin, Titouan Lepan, Marie-Paule Teulade-Fichou, Laurent Corcos, Hervé Moine, Philippe P Juin, Laurent Maillet, Anton Granzhan, Marc Blondel
{"title":"Emerging role of G-quadruplexes in alternative splicing regulation.","authors":"Aline Peynet, Ronan Le Sénéchal, Marc Keruzoré, Pauline Lejault, Alicia Quillévéré, Nadège Loaëc, Nena Martin, Titouan Lepan, Marie-Paule Teulade-Fichou, Laurent Corcos, Hervé Moine, Philippe P Juin, Laurent Maillet, Anton Granzhan, Marc Blondel","doi":"10.1016/j.tig.2026.05.001","DOIUrl":"10.1016/j.tig.2026.05.001","url":null,"abstract":"<p><p>Alternative splicing (AS) allows the production of several distinct proteins from a single protein-coding gene, thereby increasing the complexity of the proteome. In this review, we focus on the role of G-quadruplexes (G4s) in AS. G4s are noncanonical secondary structures that may form in guanine-rich loci of nucleic acids. G4s may assemble in both G-rich DNA (dG4s) and RNA (rG4s) and influence various processes, such as DNA replication, transcription, AS, or translation. We present the increasingly emerging roles of rG4s in AS regulation and discuss the potential mechanisms behind these roles. Finally, we highlight human disorders associated with dysfunctions in these processes and consider the possible use of rG4s as intervention points for these conditions, with a particular focus on cancer.</p>","PeriodicalId":54413,"journal":{"name":"Trends in Genetics","volume":" ","pages":"701-721"},"PeriodicalIF":12.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148165555","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Post-transcriptional regulation of allele-specific expression. 等位基因特异性表达的转录后调控。
IF 12.9 2区 生物学
Trends in Genetics Pub Date : 2026-07-30 DOI: 10.1016/j.tig.2026.07.005
Ying Zhang, Chen-Long Wang, Lifang Wu, Guan-Zheng Luo
{"title":"Post-transcriptional regulation of allele-specific expression.","authors":"Ying Zhang, Chen-Long Wang, Lifang Wu, Guan-Zheng Luo","doi":"10.1016/j.tig.2026.07.005","DOIUrl":"https://doi.org/10.1016/j.tig.2026.07.005","url":null,"abstract":"<p><p>Allele-specific expression (ASE) serves as a unique readout for understanding how genetic and epigenetic variations fine-tune gene regulation in diploid organisms. While allelic transcriptional control mediated by cis-elements and epigenetic marks has been extensively characterized, how these allele-specific effects propagate through the post-transcriptional landscape remains less understood. In this review, we synthesize emerging evidence of allele-specific regulation throughout the RNA life cycle, spanning RNA structure, RNA-binding protein recognition, splicing, polyadenylation, translation, and decay. Crucially, we highlight the epitranscriptomic layer, specifically N<sup>6</sup>-methyladenosine (m<sup>6</sup>A) and A-to-I editing, as a pivotal mechanism bridging genetic or epigenetic variation to ASE. We discuss recent findings of widespread sequence-dependent m<sup>6</sup>A and, notably, parent-of-origin-dependent m<sup>6</sup>A, which suggests a novel epigenomic-to-epitranscriptomic imprint transmission mechanism. Finally, we explore how long-read sequencing technologies are offering a multidimensional perspective on ASE regulation.</p>","PeriodicalId":54413,"journal":{"name":"Trends in Genetics","volume":" ","pages":""},"PeriodicalIF":12.9,"publicationDate":"2026-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148632629","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
B chromosomes put the 'super' in supernumerary. B染色体把“超级”变成了“多余”。
IF 12.9 2区 生物学
Trends in Genetics Pub Date : 2026-07-24 DOI: 10.1016/j.tig.2026.07.002
Kaylah B Samuelson, Stacey L Hanlon
{"title":"B chromosomes put the 'super' in supernumerary.","authors":"Kaylah B Samuelson, Stacey L Hanlon","doi":"10.1016/j.tig.2026.07.002","DOIUrl":"10.1016/j.tig.2026.07.002","url":null,"abstract":"<p><p>In addition to the essential set of chromosomes, individuals can carry supernumerary chromosomes that are not required for normal growth, development, or reproduction. Collectively, these extra chromosomes are called B chromosomes, and modern advances in genomic and cytological technology have accelerated our understanding of their fascinating biology. Here, we provide a brief history of B chromosome research, followed by an examination of their formation and dynamics. We conclude with an outlook on what the novel biology of B chromosomes can teach us and how it can be exploited as important tools for biotechnology, agriculture, and the advancement of human health.</p>","PeriodicalId":54413,"journal":{"name":"Trends in Genetics","volume":" ","pages":""},"PeriodicalIF":12.9,"publicationDate":"2026-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13472202/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148586039","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Olduvai domains: humanity's lucky brake. 奥杜瓦伊域：人类的幸运刹车。
IF 12.9 2区 生物学
Trends in Genetics Pub Date : 2026-07-18 DOI: 10.1016/j.tig.2026.06.007
James M Sikela
{"title":"Olduvai domains: humanity's lucky brake.","authors":"James M Sikela","doi":"10.1016/j.tig.2026.06.007","DOIUrl":"https://doi.org/10.1016/j.tig.2026.06.007","url":null,"abstract":"<p><p>Neoteny-a developmental slowdown that results in the retention of juvenile traits into adulthood-has long been viewed as central to human brain expansion. Olduvai domains are proposed here to function as a dosage-dependent metabolic 'brake' that slows development via mitochondrial downregulation. Their human-specific hyperamplification, paired with NOTCH2NL accelerators and new metabolic insights, may solve a century-old evolutionary puzzle.</p>","PeriodicalId":54413,"journal":{"name":"Trends in Genetics","volume":" ","pages":""},"PeriodicalIF":12.9,"publicationDate":"2026-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148498349","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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