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NOVA1/2 genes and alternative splicing in neurodevelopment NOVA1/2基因与神经发育中的选择性剪接
IF 3.7 2区 生物学
Current Opinion in Genetics & Development Pub Date : 2025-06-23 DOI: 10.1016/j.gde.2025.102373
Amélie Piton
{"title":"NOVA1/2 genes and alternative splicing in neurodevelopment","authors":"Amélie Piton","doi":"10.1016/j.gde.2025.102373","DOIUrl":"10.1016/j.gde.2025.102373","url":null,"abstract":"<div><div>NOVA1 and NOVA2 are neuron-specific RNA-binding proteins essential for alternative splicing (AS), influencing neurodevelopment by regulating transcript diversity. These proteins recognize YCAY sequences on pre-mRNA, regulating exon inclusion or skipping, intron retention, and alternative polyadenylation. Despite their 75% sequence identity, NOVA1 and NOVA2 exhibit distinct spatiotemporal expression patterns and target specificities, with NOVA2 predominantly expressed in cortical regions and NOVA1 in the cerebellum and spinal cord. <em>De novo</em> truncating variants in <em>NOVA2</em> are responsible for a severe neurodevelopmental disorder (NDD), characterized by intellectual developmental disorder, motor delay, autistic features, and corpus callosum hypoplasia. Loss of <em>Nova2</em> in animal models results in brain development anomalies, such as corpus callosum agenesis in mice, which mirrors the human neurodevelopmental phenotype. If direct evidence remains limited, emerging data suggest that mutations in <em>NOVA1</em> might also be involved in neurological disorders. The contribution of other mRNA-binding proteins to NDD further underscores the critical role of regulation of RNA processing in neurodevelopment. This review explores the diverse functions of NOVA proteins, their impact on AS during brain development, and their implications in brain disorders.</div></div>","PeriodicalId":50606,"journal":{"name":"Current Opinion in Genetics & Development","volume":"93 ","pages":"Article 102373"},"PeriodicalIF":3.7,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144365363","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
Lineage-specific regulatory evolution: insights from massively parallel reporter assays 谱系特异性调控进化：来自大规模平行报告者分析的见解
IF 3.7 2区 生物学
Current Opinion in Genetics & Development Pub Date : 2025-06-20 DOI: 10.1016/j.gde.2025.102372
Ryder Easterlin , Nadav Ahituv
{"title":"Lineage-specific regulatory evolution: insights from massively parallel reporter assays","authors":"Ryder Easterlin ,&nbsp;Nadav Ahituv","doi":"10.1016/j.gde.2025.102372","DOIUrl":"10.1016/j.gde.2025.102372","url":null,"abstract":"<div><div>Lineage-specific genetic variants play a key role in evolutionary divergence, particularly through changes in <em>cis</em>-regulatory elements that fine-tune gene expression. Massively parallel reporter assays (MPRAs) provide a powerful approach to characterize these variants at scale. This review highlights how MPRAs have been used to study lineage-specific regulatory activity in enhancer elements, including human accelerated regions, human adaptive quickly evolving regions, and short human-specific conserved deletions. We discuss the effects of enhancer variation on traits distinguishing modern humans, archaic hominins, and primates, as well as how MPRAs disentangle <em>cis</em>- and <em>trans</em>-regulatory contributions to gene expression divergence. As MPRA technology advances, integrating it with CRISPR-based validation and artificial intelligence–driven predictions will further illuminate the role of lineage-specific regulatory evolution.</div></div>","PeriodicalId":50606,"journal":{"name":"Current Opinion in Genetics & Development","volume":"93 ","pages":"Article 102372"},"PeriodicalIF":3.7,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144331473","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
Transposon persistence and control in germ cells 转座子在生殖细胞中的持久性和控制
IF 3.7 2区 生物学
Current Opinion in Genetics & Development Pub Date : 2025-06-18 DOI: 10.1016/j.gde.2025.102370
Lauren Tracy, Zhao Zhang
{"title":"Transposon persistence and control in germ cells","authors":"Lauren Tracy,&nbsp;Zhao Zhang","doi":"10.1016/j.gde.2025.102370","DOIUrl":"10.1016/j.gde.2025.102370","url":null,"abstract":"<div><div>Transposons, or ‘jumping genes’, are ubiquitous genomic elements with the dual capacity to drive evolutionary innovation and disrupt genome integrity through gene mutation and DNA damage. Their activity is particularly significant in germline cells, which transmit genetic material to the next generation. Transposon activity in these cells embodies a delicate balance: while limited transposon activity can introduce genetic diversity and drive evolution, unchecked mobilization risks DNA damage, sterility, and loss of fitness. As ‘selfish genes’, transposons have evolved strategies to ensure their propagation without jeopardizing host survival. This intricate relationship raises compelling questions about how transposon activity is regulated to sustain both genome stability and evolutionary potential. In this review, we explore recent advances in understanding the small RNA pathway that represses transposons in germ cells, the Piwi-interacting RNA pathway. Furthermore, we highlight how transposons creatively bypass repression. These findings illuminate the dynamic interplay between hosts and transposons, offering deeper insights into genome evolution and preservation.</div></div>","PeriodicalId":50606,"journal":{"name":"Current Opinion in Genetics & Development","volume":"93 ","pages":"Article 102370"},"PeriodicalIF":3.7,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144314499","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
Transcriptional adaptation: where mRNA decay meets genetic compensation 转录适应：mRNA衰变与遗传补偿
IF 3.7 2区 生物学
Current Opinion in Genetics & Development Pub Date : 2025-06-10 DOI: 10.1016/j.gde.2025.102369
Lara Falcucci , Brian Juvik , Didier YR Stainier
{"title":"Transcriptional adaptation: where mRNA decay meets genetic compensation","authors":"Lara Falcucci ,&nbsp;Brian Juvik ,&nbsp;Didier YR Stainier","doi":"10.1016/j.gde.2025.102369","DOIUrl":"10.1016/j.gde.2025.102369","url":null,"abstract":"<div><div>Nonsense-mediated mRNA decay (NMD) is a translation-coupled quality control mechanism that safeguards cells against faulty transcripts that could lead to truncated and potentially harmful proteins. However, we posit that there is another side to NMD: it does not just clear away defective transcripts, it also triggers a form of genetic compensation known as transcriptional adaptation (TA). This recently discovered cellular response operates independently of protein loss. Instead, mutant mRNA decay can lead to the upregulation of functional paralogs, thereby compensating for the loss of the mutated gene. Consequently, TA could play a prominent role in genotype-phenotype correlations in human genetic diseases.</div></div>","PeriodicalId":50606,"journal":{"name":"Current Opinion in Genetics & Development","volume":"93 ","pages":"Article 102369"},"PeriodicalIF":3.7,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144254116","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
mRNA translational control of regeneration 再生的mRNA翻译控制
IF 3.7 2区 生物学
Current Opinion in Genetics & Development Pub Date : 2025-06-07 DOI: 10.1016/j.gde.2025.102367
Mehdi Amiri , Nahum Sonenberg , Soroush Tahmasebi
{"title":"mRNA translational control of regeneration","authors":"Mehdi Amiri ,&nbsp;Nahum Sonenberg ,&nbsp;Soroush Tahmasebi","doi":"10.1016/j.gde.2025.102367","DOIUrl":"10.1016/j.gde.2025.102367","url":null,"abstract":"<div><div>mRNA translation is rapidly upregulated after injury to supply proteins required for tissue regeneration. Augmented protein synthesis during regeneration has long been associated with increases in ribosome biogenesis and mTORC1 activity. Emerging evidence highlights the roles of multiple signaling pathways, RNA-binding proteins, and RNA modifications in tissue repair. Here, we review recent research on the molecular mechanisms underlying translational control in response to tissue damage. The findings underscore the importance of mRNA translation in regeneration and its potential therapeutic applications in tissue repair.</div></div>","PeriodicalId":50606,"journal":{"name":"Current Opinion in Genetics & Development","volume":"93 ","pages":"Article 102367"},"PeriodicalIF":3.7,"publicationDate":"2025-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144229766","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
Rewiring for movements in meiotic prophase: regulators, roles, and evolutionary pathways 减数分裂前期运动的重新布线：调节因子，角色和进化途径
IF 3.7 2区 生物学
Current Opinion in Genetics & Development Pub Date : 2025-06-07 DOI: 10.1016/j.gde.2025.102366
Wenxin Xie , Manjunath Gowder , Dominic Bazzano , Morgan DeSantis , Saher S Hammoud
{"title":"Rewiring for movements in meiotic prophase: regulators, roles, and evolutionary pathways","authors":"Wenxin Xie ,&nbsp;Manjunath Gowder ,&nbsp;Dominic Bazzano ,&nbsp;Morgan DeSantis ,&nbsp;Saher S Hammoud","doi":"10.1016/j.gde.2025.102366","DOIUrl":"10.1016/j.gde.2025.102366","url":null,"abstract":"<div><div>Meiotic prophase movement and chromosome bouquet formation are highly conserved processes and essential features of meiosis, yet their functional components and dependencies vary among organisms. A key feature of meiotic prophase is that chromosome regions like telomeres or centromeres become physically tethered to the inner nuclear membrane through a hierarchical and sequential arrangement of proteins. Telomeres or their analogs further interact with the cytoskeletal machinery, which provides the necessary mechanical force to execute the chromosomal movements that enable homologous pairing, synapsis, and meiotic recombination. Despite decades of research, our understanding of these processes, their interdependencies, and their precise role remains incomplete. Here, we summarize the current mechanistic understanding and describe avenues for further exploration.</div></div>","PeriodicalId":50606,"journal":{"name":"Current Opinion in Genetics & Development","volume":"93 ","pages":"Article 102366"},"PeriodicalIF":3.7,"publicationDate":"2025-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144229765","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
Recent advances in interspecies chimeras and organogenesis 种间嵌合和器官发生的最新进展
IF 3.7 2区 生物学
Current Opinion in Genetics & Development Pub Date : 2025-06-04 DOI: 10.1016/j.gde.2025.102368
Jia Huang , Bingbing He , Jun Wu
{"title":"Recent advances in interspecies chimeras and organogenesis","authors":"Jia Huang ,&nbsp;Bingbing He ,&nbsp;Jun Wu","doi":"10.1016/j.gde.2025.102368","DOIUrl":"10.1016/j.gde.2025.102368","url":null,"abstract":"<div><div>Interspecies chimeras have served as a crucial tool for understanding the mechanisms of tissue regeneration and repair, offering promising potential to address the global organ shortage crisis. Through a technique known as interspecies blastocyst complementation, researchers can cultivate tissues and organs of one species within the body of another species. This approach involves injecting donor pluripotent stem cells into a host blastocyst that lacks critical developmental genes, allowing the donor cells to compensate for the missing organs or tissues in the host and thereby produce organs derived from the donor species. This review consolidates key findings from studies published in the past 2 years, highlighting advancements in techniques that enable the development of functional organs across species, as well as the remaining challenges.</div></div>","PeriodicalId":50606,"journal":{"name":"Current Opinion in Genetics & Development","volume":"93 ","pages":"Article 102368"},"PeriodicalIF":3.7,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144212462","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
Non-homologous sequence interactions during meiosis: meiotic challenges and evolutionary opportunities 减数分裂过程中的非同源序列相互作用：减数分裂的挑战和进化机会
IF 3.7 2区 生物学
Current Opinion in Genetics & Development Pub Date : 2025-05-23 DOI: 10.1016/j.gde.2025.102365
Beth L Dumont, Mary Ann Handel
{"title":"Non-homologous sequence interactions during meiosis: meiotic challenges and evolutionary opportunities","authors":"Beth L Dumont,&nbsp;Mary Ann Handel","doi":"10.1016/j.gde.2025.102365","DOIUrl":"10.1016/j.gde.2025.102365","url":null,"abstract":"<div><div>A hallmark of meiosis is pairing of homologous chromosomes, an event that ensures proper segregation into the gametes. Homology pairing is crucial to the formation of normal gametes, the maintenance of genomic integrity, and avoidance of aneuploidy. However, chromosomes are not completely homologous. Here we discuss two notable exceptions to homology: the mammalian sex chromosomes and centromeres. In themselves, these exceptions illustrate meiotic adaptations that both ensure correct chromosome segregation and present evolutionary opportunities. More broadly, such examples of non-homology provide a window for viewing normal mechanisms of meiotic pairing and chromosome modifications. Current analyses of mammalian meiotic chromosome dynamics suggest that the basis for the initial recognition of homology early in meiosis may be based in epigenetic chromatin modifications. Chromatin units may both form pairing sites and provide the modifications that allow non-homologous sequences to be tolerated. Despite recent research progress, we have yet to understand why some non-homologies are tolerated, while others lead to aneuploidy. Understanding how genomes evolve strategies to subvert the usual rules of meiosis will benefit from studies focused on the identification and characterization of meiosis in species with recently acquired non-homology. Looking forward, we are now armed with technologies and tools suited to precisely measure the extent of nonhomology across mammalian chromosomes and to probe the molecular and biophysical steps required for the initiation of homologous chromosome recognition and pairing. These goals are important for elucidating an essential mechanism of meiosis and ultimately for advancing the clinical diagnosis of gametic and embryo aneuploidy.</div></div>","PeriodicalId":50606,"journal":{"name":"Current Opinion in Genetics & Development","volume":"93 ","pages":"Article 102365"},"PeriodicalIF":3.7,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144116256","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
Biological roles of nonsense-mediated RNA decay: insights from the nervous system 无义介导的RNA衰变的生物学作用：来自神经系统的见解
IF 3.7 2区 生物学
Current Opinion in Genetics & Development Pub Date : 2025-05-22 DOI: 10.1016/j.gde.2025.102356
Kun Tan , Miles F Wilkinson
{"title":"Biological roles of nonsense-mediated RNA decay: insights from the nervous system","authors":"Kun Tan ,&nbsp;Miles F Wilkinson","doi":"10.1016/j.gde.2025.102356","DOIUrl":"10.1016/j.gde.2025.102356","url":null,"abstract":"<div><div>Nonsense-mediated RNA decay (NMD) is a highly selective and conserved RNA turnover pathway. The discovery that NMD is not only a quality control pathway that degrades aberrant mRNAs but also degrades subsets of normal mRNAs has led to the hypothesis that NMD influences and controls normal biological events. In this review, we lay out the support for this hypothesis, with a focus on NMD’s roles in the nervous system. Studies have demonstrated roles for NMD in several aspects of nervous system development, including neural cell generation and differentiation. Studies in mice have provided evidence that NMD inhibits neural inflammation and promotes mature neuron functions, including dendritic spine maturation and synaptic plasticity, providing a potential explanation for why NMD deficiency leads to cognitive and behavioral dysfunction in mice and humans.</div></div>","PeriodicalId":50606,"journal":{"name":"Current Opinion in Genetics & Development","volume":"93 ","pages":"Article 102356"},"PeriodicalIF":3.7,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144107718","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
Stem cell models of human embryo implantation and trophoblast invasion 人胚胎着床和滋养细胞侵袭的干细胞模型
IF 3.7 2区 生物学
Current Opinion in Genetics & Development Pub Date : 2025-05-20 DOI: 10.1016/j.gde.2025.102357
Peiheng Liu , Serene Mattis , Thorold W Theunissen
{"title":"Stem cell models of human embryo implantation and trophoblast invasion","authors":"Peiheng Liu ,&nbsp;Serene Mattis ,&nbsp;Thorold W Theunissen","doi":"10.1016/j.gde.2025.102357","DOIUrl":"10.1016/j.gde.2025.102357","url":null,"abstract":"<div><div>Stem cell–based embryo models have taken the scientific community by storm as they enable investigation of previously inaccessible stages of human development. Here, we discuss how stem cell–based embryo and placenta models can shine a light on two elusive and intertwined aspects of human development that are critical for successful pregnancy: the implantation of the blastocyst into the endometrium and the subsequent invasion of placental villi deep inside the maternal tissues. Both of these processes are mediated by the trophoblast lineage, which is specified in the preimplantation embryo and can be modeled using naïve pluripotent stem cells. We review how embryo and placenta models built from naïve stem cells can be leveraged to obtain mechanistic insights into human implantation and trophoblast invasion.</div></div>","PeriodicalId":50606,"journal":{"name":"Current Opinion in Genetics & Development","volume":"93 ","pages":"Article 102357"},"PeriodicalIF":3.7,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144088910","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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