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Telomere Dynamics in Zebrafish Aging and Disease. 斑马鱼衰老和疾病的端粒动力学。
IF 6.9 2区 生物学
Cold Spring Harbor perspectives in biology Pub Date : 2025-04-01 DOI: 10.1101/cshperspect.a041696
Miguel Godinho Ferreira
{"title":"Telomere Dynamics in Zebrafish Aging and Disease.","authors":"Miguel Godinho Ferreira","doi":"10.1101/cshperspect.a041696","DOIUrl":"10.1101/cshperspect.a041696","url":null,"abstract":"<p><p>Fish telomere lengths vary significantly across the numerous species, implicating diverse life strategies and environmental adaptations. Zebrafish have telomere dynamics that are comparable to humans and are emerging as a key model in which to unravel the systemic effects of telomere shortening on aging and interorgan communication. Here, we discuss zebrafish telomere biology, focusing on the organismal impact of telomere attrition beyond cellular senescence, with particular emphasis on how telomeric shortening in specific tissues can unleash widespread organ dysfunction and disease. This highlights a novel aspect of tissue communication, whereby telomere shortening in one organ can propagate through biological networks, influencing the aging process systemically. These discoveries position zebrafish as a valuable model for studying the complex interactions between telomeres, aging, and tissue cross talk, providing important insights with direct relevance to human health and longevity.</p>","PeriodicalId":10494,"journal":{"name":"Cold Spring Harbor perspectives in biology","volume":" ","pages":""},"PeriodicalIF":6.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960697/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142853181","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
Enteric Glia. 肠胶质细胞
IF 6.9 2区 生物学
Cold Spring Harbor perspectives in biology Pub Date : 2025-04-01 DOI: 10.1101/cshperspect.a041368
Meenakshi Rao, Brian D Gulbransen
{"title":"Enteric Glia.","authors":"Meenakshi Rao, Brian D Gulbransen","doi":"10.1101/cshperspect.a041368","DOIUrl":"10.1101/cshperspect.a041368","url":null,"abstract":"<p><p>Enteric glia are a unique type of peripheral neuroglia that accompany neurons in the enteric nervous system (ENS) of the digestive tract. The ENS displays integrative neural circuits that are capable of governing moment-to-moment gut functions independent of input from the central nervous system. Enteric glia are interspersed with neurons throughout these intrinsic gut neural circuits and are thought to fulfill complex roles directed at maintaining homeostasis in the neuronal microenvironment and at neuroeffector junctions in the gut. Changes to glial functions contribute to a wide range of gastrointestinal diseases, but the precise roles of enteric glia in gut physiology and pathophysiology are still under examination. This review summarizes current concepts regarding enteric glial development, diversity, and functions in health and disease.</p>","PeriodicalId":10494,"journal":{"name":"Cold Spring Harbor perspectives in biology","volume":" ","pages":""},"PeriodicalIF":6.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960695/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141476123","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
Rediscovering and Unrediscovering Gregor Mendel: His Life, Times, and Intellectual Context. 重新发现和重新发现格里高尔-孟德尔：他的生平、时代和思想背景》（Rediscovering and Unrediscovering Gregor Mendel: His Life, Times, and Intellectual Context.
IF 6.9 2区 生物学
Cold Spring Harbor perspectives in biology Pub Date : 2025-04-01 DOI: 10.1101/cshperspect.a041812
Sander Gliboff
{"title":"Rediscovering and Unrediscovering Gregor Mendel: His Life, Times, and Intellectual Context.","authors":"Sander Gliboff","doi":"10.1101/cshperspect.a041812","DOIUrl":"10.1101/cshperspect.a041812","url":null,"abstract":"<p><p>Two things about Mendel were \"rediscovered\" in 1900: His famous paper of 1865 and the story of his life and long neglect. Unlike the paper, which anyone could read in its entirety, the story came out only gradually, and many of its elements were misconstrued by Western European scientists. They pictured him as a pure scientist like themselves and were puzzled by or disinterested in his career as a clergyman, his intellectual community in far-off Moravia, and the importance to him of practical plant breeding. This paper recapitulates the process of mythmaking that followed the rediscovery, then shows how more recent historical research has been able to undo it and, in a sense, \"unrediscover\" Mendel.</p>","PeriodicalId":10494,"journal":{"name":"Cold Spring Harbor perspectives in biology","volume":" ","pages":""},"PeriodicalIF":6.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960685/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142582604","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
Physical Forces in Regeneration of Cells and Tissues. 细胞和组织再生中的物理力
IF 6.9 2区 生物学
Cold Spring Harbor perspectives in biology Pub Date : 2025-04-01 DOI: 10.1101/cshperspect.a041527
Sindy K Y Tang, Wallace F Marshall
{"title":"Physical Forces in Regeneration of Cells and Tissues.","authors":"Sindy K Y Tang, Wallace F Marshall","doi":"10.1101/cshperspect.a041527","DOIUrl":"10.1101/cshperspect.a041527","url":null,"abstract":"<p><p>The ability to regenerate after the loss of a part is a hallmark of living systems and occurs at both the tissue and organ scales, but also within individual cells. Regeneration entails many processes that are physical and mechanical in nature, including the closure of wounds, the repositioning of material from one place to another, and the restoration of symmetry following perturbations. However, we currently know far more about the genetics and molecular signaling pathways involved in regeneration, and there is a need to investigate the role of physical forces in the process. Here, we will provide an overview of how physical forces may play a role in wound healing and regeneration, in which we compare and contrast regenerative processes at the tissue and cell scales.</p>","PeriodicalId":10494,"journal":{"name":"Cold Spring Harbor perspectives in biology","volume":" ","pages":""},"PeriodicalIF":6.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11602525/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141161417","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
Tissue Active Matter: Integrating Mechanics and Signaling into Dynamical Models. 组织活性物质：将力学和信号传导整合到动力学模型中。
IF 6.9 2区 生物学
Cold Spring Harbor perspectives in biology Pub Date : 2025-04-01 DOI: 10.1101/cshperspect.a041653
David B Brückner, Edouard Hannezo
{"title":"Tissue Active Matter: Integrating Mechanics and Signaling into Dynamical Models.","authors":"David B Brückner, Edouard Hannezo","doi":"10.1101/cshperspect.a041653","DOIUrl":"10.1101/cshperspect.a041653","url":null,"abstract":"<p><p>The importance of physical forces in the morphogenesis, homeostatic function, and pathological dysfunction of multicellular tissues is being increasingly characterized, both theoretically and experimentally. Analogies between biological systems and inert materials such as foams, gels, and liquid crystals have provided striking insights into the core design principles underlying multicellular organization. However, these connections can seem surprising given that a key feature of multicellular systems is their ability to constantly consume energy, providing an active origin for the forces that they produce. Key emerging questions are, therefore, to understand whether and how this activity grants tissues novel properties that do not have counterparts in classical materials, as well as their consequences for biological function. Here, we review recent discoveries at the intersection of active matter and tissue biology, with an emphasis on how modeling and experiments can be combined to understand the dynamics of multicellular systems. These approaches suggest that a number of key biological tissue-scale phenomena, such as morphogenetic shape changes, collective migration, or fate decisions, share unifying design principles that can be described by physical models of tissue active matter.</p>","PeriodicalId":10494,"journal":{"name":"Cold Spring Harbor perspectives in biology","volume":" ","pages":""},"PeriodicalIF":6.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960702/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141476127","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
Facioscapulohumeral Dystrophy: Molecular Basis and Therapeutic Opportunities. 面岬肱骨营养不良症：分子基础和治疗机会。
IF 6.9 2区 生物学
Cold Spring Harbor perspectives in biology Pub Date : 2025-04-01 DOI: 10.1101/cshperspect.a041492
Tessa Arends, Danielle C Hamm, Silvère van der Maarel, Stephen J Tapscott
{"title":"Facioscapulohumeral Dystrophy: Molecular Basis and Therapeutic Opportunities.","authors":"Tessa Arends, Danielle C Hamm, Silvère van der Maarel, Stephen J Tapscott","doi":"10.1101/cshperspect.a041492","DOIUrl":"10.1101/cshperspect.a041492","url":null,"abstract":"<p><p>Facioscapulohumeral dystrophy (FSHD) is caused by misexpression of the early embryonic transcription factor Double Homeobox Protein 4 (DUX4) in skeletal muscle. DUX4 is normally expressed at the 4-cell stage of the human embryo and initiates a portion of the first wave of embryonic gene expression that establishes the totipotent cells of the embryo. Following brief expression, the <i>DUX4</i> locus is suppressed by epigenetic silencing and remains silenced in nearly all somatic cells. Mutations that cause FSHD decrease the efficiency of epigenetic silencing of the <i>DUX4</i> locus and result in aberrant expression of this transcription factor in skeletal muscles. DUX4 expression in these skeletal muscles reactivates part of the early totipotent program and suppresses the muscle program-resulting in a progressive muscular dystrophy that affects some muscles earlier than others. These advances in understanding the cause of FSHD have led to multiple therapeutic strategies that are now entering clinical trials.</p>","PeriodicalId":10494,"journal":{"name":"Cold Spring Harbor perspectives in biology","volume":" ","pages":""},"PeriodicalIF":6.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11733064/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141619506","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
Epigenetics of Human Telomeres. 人类端粒的表观遗传学。
IF 6.9 2区 生物学
Cold Spring Harbor perspectives in biology Pub Date : 2025-03-17 DOI: 10.1101/cshperspect.a041706
Nicole Bettin, Mélina Vaurs, Anabelle Decottignies
{"title":"Epigenetics of Human Telomeres.","authors":"Nicole Bettin, Mélina Vaurs, Anabelle Decottignies","doi":"10.1101/cshperspect.a041706","DOIUrl":"https://doi.org/10.1101/cshperspect.a041706","url":null,"abstract":"<p><p>Human telomeric heterochromatin is unusual in that it does not show the enrichment of canonical repressive histone marks H3K9me3 or H4K20me3 seen in constitutive heterochromatin. Instead, human telomeres exhibit both facultative heterochromatin and euchromatin marks, consistent with their epigenetically regulated transcription into TERRA noncoding RNA. Additionally, telomeric DNA is out of phase with the DNA helical repeat and has no nucleosome positioning signal. Yet, human telomeric DNA forms a columnar structure of tightly stacked nucleosomes, alternating with open states, and regulated by histone tails and shelterin protein binding. We discuss the proposed mechanisms regulating human telomeric chromatin and the consequences that telomeric chromatin properties have on various cellular processes, such as telomere transcription, the regulation of shelterin binding, and the activation of the alternative lengthening of telomeres mechanism. Together, we summarize current evidence on the combination of hetero- and euchromatic properties of human telomeres that may help explain their crucial protective functions and plasticity to regulate telomere maintenance pathways and damage signaling.</p>","PeriodicalId":10494,"journal":{"name":"Cold Spring Harbor perspectives in biology","volume":" ","pages":""},"PeriodicalIF":6.9,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143647562","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
In the Loop: Unusual DNA Structures at Telomeric Repeats and Their Impact on Telomere Function. 在循环中：端粒重复的不寻常DNA结构及其对端粒功能的影响。
IF 6.9 2区 生物学
Cold Spring Harbor perspectives in biology Pub Date : 2025-03-17 DOI: 10.1101/cshperspect.a041694
Elia Zanella, Ylli Doksani
{"title":"In the Loop: Unusual DNA Structures at Telomeric Repeats and Their Impact on Telomere Function.","authors":"Elia Zanella, Ylli Doksani","doi":"10.1101/cshperspect.a041694","DOIUrl":"https://doi.org/10.1101/cshperspect.a041694","url":null,"abstract":"<p><p>Telomeric repeats recruit the shelterin complex to prevent activation of the double-strand break response at chromosome ends. Thousands of TTAGGG repeats are present at each chromosome end to ensure telomere function. This abundance of G-rich repeats comes with the propensity to generate unusual DNA structures. The telomere loop (t-loop) structure, generated by strand invasion of the 3' overhang in the internal repeats, contributes to telomere function. G4-DNA is promoted by the stretches of G-rich repeats in a single-stranded form and may affect telomere replication and elongation by telomerase. The intramolecular homology can lead to the formation of internal loops (i-loops) via intramolecular recombination at sites of telomeric damage, which can promote the excision of telomeric repeats as extrachromosomal circular DNA. Shelterin promotes t-loops, counteracting the accumulation of pathological structures either directly or via the recruitment of specialized helicases. Here, we will discuss the current evidence for the formation of unusual DNA structures at telomeres and possible implications for telomere function.</p>","PeriodicalId":10494,"journal":{"name":"Cold Spring Harbor perspectives in biology","volume":" ","pages":""},"PeriodicalIF":6.9,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143647564","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
Proteins of the Triadic Excitation-Contraction Coupling Complex in Skeletal Muscle. 骨骼肌三联兴奋-收缩耦合复合体的蛋白质。
IF 6.9 2区 生物学
Cold Spring Harbor perspectives in biology Pub Date : 2025-03-17 DOI: 10.1101/cshperspect.a041482
Ting Chang, Rachel Sue Zhen Yee, George G Rodney, Susan L Hamilton
{"title":"Proteins of the Triadic Excitation-Contraction Coupling Complex in Skeletal Muscle.","authors":"Ting Chang, Rachel Sue Zhen Yee, George G Rodney, Susan L Hamilton","doi":"10.1101/cshperspect.a041482","DOIUrl":"https://doi.org/10.1101/cshperspect.a041482","url":null,"abstract":"<p><p>Excitation-contraction coupling (ECC) in skeletal muscle is mediated by mechanical coupling between the L-type voltage-dependent Ca<sup>2+</sup> channel (Ca<sub>V</sub>1.1) in the transverse tubules and the Ca<sup>2+</sup> release channel (RYR1) in the sarcoplasmic reticulum (SR). However, ECC complexes are much more complicated than just these two ion channels. Triadic Ca<sup>2+</sup> release units (CRUs) that mediate ECC in skeletal muscle are allosterically regulated complexes of ion channels, cytoplasmic modulators, SR transmembrane proteins, and lumenal Ca<sup>2+</sup> buffers. While RYR1, Ca<sub>V</sub>1.1α<sub>1s</sub>, and Ca<sub>V</sub>1.1β<sub>1a</sub>, the SH3 and cysteine-rich domain protein (STAC3) and junctophilin (JPH1 and/or JPH2) are required for voltage-gated Ca<sup>2+</sup> release, other auxiliary proteins modulate this process. In this review, we discuss what is known about the proteins in the triadic protein complex, their roles in ECC, and the mutations in the ECC proteins that give rise to skeletal muscle myopathies.</p>","PeriodicalId":10494,"journal":{"name":"Cold Spring Harbor perspectives in biology","volume":" ","pages":""},"PeriodicalIF":6.9,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143647565","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
Telomeric Repeat-Containing RNA: Biogenesis, Regulation, and Functions. 端粒重复序列RNA：生物发生、调控和功能。
IF 6.9 2区 生物学
Cold Spring Harbor perspectives in biology Pub Date : 2025-03-17 DOI: 10.1101/cshperspect.a041683
Patricia L Abreu, Valentina Riva, Luca Zardoni, Claus M Azzalin
{"title":"Telomeric Repeat-Containing RNA: Biogenesis, Regulation, and Functions.","authors":"Patricia L Abreu, Valentina Riva, Luca Zardoni, Claus M Azzalin","doi":"10.1101/cshperspect.a041683","DOIUrl":"https://doi.org/10.1101/cshperspect.a041683","url":null,"abstract":"<p><p>Telomeric repeat-containing RNA (TERRA) molecules are transcripts comprising extended stretches of telomeric G-rich repeats, which are generated from telomeres or intrachromosomal loci. TERRA production is an evolutionarily conserved process observed across all eukaryotic kingdoms. While originally thought to localize and function only at telomeres, it is now clear that TERRA is involved in numerous cellular pathways beyond telomere maintenance, including gene expression regulation and signaling of dysfunctional telomeres to the cytoplasm and the extracellular environment. In this work, we will review key aspects of TERRA biogenesis, regulation, and functional relevance and propose models to reconcile the multiple and sometimes contradictory functions ascribed to TERRA. Based on TERRA interaction with proteins involved in disparate cellular processes, we also suggest that the full spectrum of TERRA-associated functions is still far from being completely unveiled. We anticipate that further study of this complex and fascinating RNA will reveal additional surprises in the future.</p>","PeriodicalId":10494,"journal":{"name":"Cold Spring Harbor perspectives in biology","volume":" ","pages":""},"PeriodicalIF":6.9,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143647568","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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