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Telomeres and Human Disease. 端粒与人类疾病
IF 6.9 2区 生物学
Cold Spring Harbor perspectives in biology Pub Date : 2025-03-17 DOI: 10.1101/cshperspect.a041684
Sharon A Savage
{"title":"Telomeres and Human Disease.","authors":"Sharon A Savage","doi":"10.1101/cshperspect.a041684","DOIUrl":"https://doi.org/10.1101/cshperspect.a041684","url":null,"abstract":"<p><p>Telomeres, the long nucleotide repeats, and protein complex at chromosome ends, are central to genomic integrity. Telomere length (TL) varies widely between populations due to germline genetics, environmental exposures, and other factors. Very short telomeres caused by pathogenic germline variants in telomere maintenance genes cause the telomere biology disorders, a spectrum of life-threatening conditions including bone marrow failure, liver and lung disease, cancer, and other complications. Cancer predisposition with long telomeres is caused by rare pathogenic germline variants in components of the shelterin telomere protection protein complex and associated primarily with elevated risk of melanoma, thyroid cancer, sarcoma, and lymphoproliferative malignancies. In the middle, studies of the general population at risk of common illnesses, such as cardiovascular disease and cancer, have found statistically significant differences in TL but uncertain clinical applicability. This work reviews connections between telomere biology and human disease focusing on similarities and differences across the phenotypic spectrum.</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":"143647567","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
Multiple Sclerosis and Other Acquired Demyelinating Diseases of the Central Nervous System. 多发性硬化症和其他后天性中枢神经系统脱髓鞘疾病。
IF 6.9 2区 生物学
Cold Spring Harbor perspectives in biology Pub Date : 2025-03-03 DOI: 10.1101/cshperspect.a041374
Michael D Kornberg, Peter A Calabresi
{"title":"Multiple Sclerosis and Other Acquired Demyelinating Diseases of the Central Nervous System.","authors":"Michael D Kornberg, Peter A Calabresi","doi":"10.1101/cshperspect.a041374","DOIUrl":"10.1101/cshperspect.a041374","url":null,"abstract":"<p><p>Acquired demyelinating diseases of the central nervous system (CNS) comprise inflammatory conditions, including multiple sclerosis (MS) and related diseases, as well as noninflammatory conditions caused by toxic, metabolic, infectious, traumatic, and neurodegenerative insults. Here, we review the spectrum of diseases producing acquired CNS demyelination before focusing on the prototypical example of MS, exploring the pathologic mechanisms leading to myelin injury in relapsing and progressive MS and summarizing the mechanisms and modulators of remyelination. We highlight the complex interplay between the immune system, oligodendrocytes and oligodendrocyte progenitor cells (OPCs), and other CNS glia cells such as microglia and astrocytes in the pathogenesis and clinical course of MS. Finally, we review emerging therapeutic strategies that exploit our growing understanding of disease mechanisms to limit progression and promote remyelination.</p>","PeriodicalId":10494,"journal":{"name":"Cold Spring Harbor perspectives in biology","volume":" ","pages":""},"PeriodicalIF":6.9,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11875095/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141161299","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
Speciation. 物种。
IF 6.9 2区 生物学
Cold Spring Harbor perspectives in biology Pub Date : 2025-03-03 DOI: 10.1101/cshperspect.a041735
Catherine L Peichel, Daniel I Bolnick, Åke Brännström, Ulf Dieckmann, Rebecca J Safran
{"title":"Speciation.","authors":"Catherine L Peichel, Daniel I Bolnick, Åke Brännström, Ulf Dieckmann, Rebecca J Safran","doi":"10.1101/cshperspect.a041735","DOIUrl":"10.1101/cshperspect.a041735","url":null,"abstract":"<p><p>What drives the emergence of new species has fascinated biologists since Darwin. Reproductive barriers to gene flow are a key step in the formation of species, and recent advances have shed new light on how these are established. Genetic, genomic, and comparative techniques, together with improved theoretical frameworks, are increasing our understanding of the underlying mechanisms. They are also helping us forecast speciation and reveal the impact of human activity.</p>","PeriodicalId":10494,"journal":{"name":"Cold Spring Harbor perspectives in biology","volume":" ","pages":""},"PeriodicalIF":6.9,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11875085/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141300245","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
Corrigendum: Modeling the Emergence of Circuit Organization and Function during Development. 更正：模拟发育过程中电路组织和功能的出现。
IF 6.9 2区 生物学
Cold Spring Harbor perspectives in biology Pub Date : 2025-03-03 DOI: 10.1101/cshperspect.a041835
Shreya Lakhera, Elizabeth Herbert, Julijana Gjorgjieva
{"title":"Corrigendum: Modeling the Emergence of Circuit Organization and Function during Development.","authors":"Shreya Lakhera, Elizabeth Herbert, Julijana Gjorgjieva","doi":"10.1101/cshperspect.a041835","DOIUrl":"10.1101/cshperspect.a041835","url":null,"abstract":"","PeriodicalId":10494,"journal":{"name":"Cold Spring Harbor perspectives in biology","volume":" ","pages":""},"PeriodicalIF":6.9,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11875084/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142544157","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
Maintaining Telomeres without Telomerase in Drosophila: Novel Mechanisms and Rapid Evolution to Save a Genus. 果蝇在没有端粒酶的情况下维持端粒：拯救一个属的新机制和快速进化。
IF 6.9 2区 生物学
Cold Spring Harbor perspectives in biology Pub Date : 2025-03-03 DOI: 10.1101/cshperspect.a041708
Stefano Cacchione, Giovanni Cenci, Anne-Marie Dion-Côté, Daniel A Barbash, Grazia Daniela Raffa
{"title":"Maintaining Telomeres without Telomerase in <i>Drosophila</i>: Novel Mechanisms and Rapid Evolution to Save a Genus.","authors":"Stefano Cacchione, Giovanni Cenci, Anne-Marie Dion-Côté, Daniel A Barbash, Grazia Daniela Raffa","doi":"10.1101/cshperspect.a041708","DOIUrl":"10.1101/cshperspect.a041708","url":null,"abstract":"<p><p>Telomere maintenance is crucial for preventing the linear eukaryotic chromosome ends from being mistaken for DNA double-strand breaks, thereby avoiding chromosome fusions and the loss of genetic material. Unlike most eukaryotes that use telomerase for telomere maintenance, <i>Drosophila</i> relies on retrotransposable elements-specifically <i>HeT-A</i>, <i>TAHRE</i>, and <i>TART</i> (collectively referred to as HTT)-which are regulated and precisely targeted to chromosome ends. <i>Drosophila</i> telomere protection is mediated by a set of fast-evolving proteins, termed terminin, which bind to chromosome termini without sequence specificity, balancing DNA damage response factors to avoid erroneous repair mechanisms. This unique telomere capping mechanism highlights an alternative evolutionary strategy to compensate for telomerase loss. The modulation of recombination and transcription at <i>Drosophila</i> telomeres offers insights into the diverse mechanisms of telomere maintenance. Recent studies at the population level have begun to reveal the architecture of telomere arrays, the diversity among the HTT subfamilies, and their relative frequencies, aiming to understand whether and how these elements have evolved to reach an equilibrium with the host and to resolve genetic conflicts. Further studies may shed light on the complex relationships between telomere transcription, recombination, and maintenance, underscoring the adaptive plasticity of telomeric complexes across eukaryotes.</p>","PeriodicalId":10494,"journal":{"name":"Cold Spring Harbor perspectives in biology","volume":" ","pages":""},"PeriodicalIF":6.9,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11875090/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142853176","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
The Mechanics of Building Functional Organs. 构建功能器官的机制
IF 6.9 2区 生物学
Cold Spring Harbor perspectives in biology Pub Date : 2025-03-03 DOI: 10.1101/cshperspect.a041520
Toby G R Andrews, Rashmi Priya
{"title":"The Mechanics of Building Functional Organs.","authors":"Toby G R Andrews, Rashmi Priya","doi":"10.1101/cshperspect.a041520","DOIUrl":"10.1101/cshperspect.a041520","url":null,"abstract":"<p><p>Organ morphogenesis is multifaceted, multiscale, and fundamentally a robust process. Despite the complex and dynamic nature of embryonic development, organs are built with reproducible size, shape, and function, allowing them to support organismal growth and life. This striking reproducibility of tissue form exists because morphogenesis is not entirely hardwired. Instead, it is an emergent product of mechanochemical information flow, operating across spatial and temporal scales-from local cellular deformations to organ-scale form and function, and back. In this review, we address the mechanical basis of organ morphogenesis, as understood by observations and experiments in living embryos. To this end, we discuss how mechanical information controls the emergence of a highly conserved set of structural motifs that shape organ architectures across the animal kingdom: folds and loops, tubes and lumens, buds, branches, and networks. Moving forward, we advocate for a holistic conceptual framework for the study of organ morphogenesis, which rests on an interdisciplinary toolkit and brings the embryo center stage.</p>","PeriodicalId":10494,"journal":{"name":"Cold Spring Harbor perspectives in biology","volume":" ","pages":""},"PeriodicalIF":6.9,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7616527/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141418132","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
Oxidative Stress and DNA Damage at Telomeres. 氧化应激和端粒DNA损伤。
IF 6.9 2区 生物学
Cold Spring Harbor perspectives in biology Pub Date : 2025-02-10 DOI: 10.1101/cshperspect.a041707
Patricia L Opresko, Samantha L Sanford, Mariarosaria De Rosa
{"title":"Oxidative Stress and DNA Damage at Telomeres.","authors":"Patricia L Opresko, Samantha L Sanford, Mariarosaria De Rosa","doi":"10.1101/cshperspect.a041707","DOIUrl":"10.1101/cshperspect.a041707","url":null,"abstract":"<p><p>Oxidative stress is associated with increasing telomere shortening and telomere dysfunction, as well as with numerous pathologies in humans, including inflammatory diseases and cancer. Critically short and dysfunctional telomeres lose their ability to protect chromosome ends, which triggers irreversible growth arrest, termed senescence, or genomic instability. Telomeres are highly sensitive to damage from reactive oxygen species, which increase under conditions of oxidative stress. This work covers the evidence that oxidative damage to telomeric DNA alters telomere maintenance by various mechanisms and describes the DNA repair pathways important for preserving telomere function under oxidative stress conditions.</p>","PeriodicalId":10494,"journal":{"name":"Cold Spring Harbor perspectives in biology","volume":" ","pages":""},"PeriodicalIF":6.9,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143390447","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
Modeling the Emergence of Circuit Organization and Function during Development. 模拟发育过程中电路组织和功能的出现
IF 6.9 2区 生物学
Cold Spring Harbor perspectives in biology Pub Date : 2025-02-03 DOI: 10.1101/cshperspect.a041511
Shreya Lakhera, Elizabeth Herbert, Julijana Gjorgjieva
{"title":"Modeling the Emergence of Circuit Organization and Function during Development.","authors":"Shreya Lakhera, Elizabeth Herbert, Julijana Gjorgjieva","doi":"10.1101/cshperspect.a041511","DOIUrl":"10.1101/cshperspect.a041511","url":null,"abstract":"<p><p>Developing neural circuits show unique patterns of spontaneous activity and structured network connectivity shaped by diverse activity-dependent plasticity mechanisms. Based on extensive experimental work characterizing patterns of spontaneous activity in different brain regions over development, theoretical and computational models have played an important role in delineating the generation and function of individual features of spontaneous activity and their role in the plasticity-driven formation of circuit connectivity. Here, we review recent modeling efforts that explore how the developing cortex and hippocampus generate spontaneous activity, focusing on specific connectivity profiles and the gradual strengthening of inhibition as the key drivers behind the observed developmental changes in spontaneous activity. We then discuss computational models that mechanistically explore how different plasticity mechanisms use this spontaneous activity to instruct the formation and refinement of circuit connectivity, from the formation of single neuron receptive fields to sensory feature maps and recurrent architectures. We end by highlighting several open challenges regarding the functional implications of the discussed circuit changes, wherein models could provide the missing step linking immature developmental and mature adult information processing capabilities.</p>","PeriodicalId":10494,"journal":{"name":"Cold Spring Harbor perspectives in biology","volume":" ","pages":""},"PeriodicalIF":6.9,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11864115/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141300243","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
The Role of Microhomology-Mediated End Joining (MMEJ) at Dysfunctional Telomeres. 微同源物介导的端接（MMEJ）在功能障碍端粒中的作用
IF 6.9 2区 生物学
Cold Spring Harbor perspectives in biology Pub Date : 2025-02-03 DOI: 10.1101/cshperspect.a041687
David Billing, Agnel Sfeir
{"title":"The Role of Microhomology-Mediated End Joining (MMEJ) at Dysfunctional Telomeres.","authors":"David Billing, Agnel Sfeir","doi":"10.1101/cshperspect.a041687","DOIUrl":"10.1101/cshperspect.a041687","url":null,"abstract":"<p><p>DNA double-strand break (DSB) repair pathways are crucial for maintaining genome stability and cell viability. However, these pathways can mistakenly recognize chromosome ends as DNA breaks, leading to adverse outcomes such as telomere fusions and malignant transformation. The shelterin complex protects telomeres from activation of DNA repair pathways by inhibiting nonhomologous end joining (NHEJ), homologous recombination (HR), and microhomology-mediated end joining (MMEJ). The focus of this paper is on MMEJ, an error-prone DSB repair pathway characterized by short insertions and deletions flanked by sequence homology. MMEJ is critical in mediating telomere fusions in cells lacking the shelterin complex and at critically short telomeres. Furthermore, studies suggest that MMEJ is the preferred pathway for repairing intratelomeric DSBs and facilitates escape from telomere crisis. Targeting MMEJ to prevent telomere fusions in hematologic malignancies is of potential therapeutic value.</p>","PeriodicalId":10494,"journal":{"name":"Cold Spring Harbor perspectives in biology","volume":" ","pages":""},"PeriodicalIF":6.9,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11864110/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142582607","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
Glia at Transition Zones. 过渡区的胶质细胞
IF 6.9 2区 生物学
Cold Spring Harbor perspectives in biology Pub Date : 2025-02-03 DOI: 10.1101/cshperspect.a041369
Sarah Kucenas, Pernelle Pulh, Piotr Topilko, Cody J Smith
{"title":"Glia at Transition Zones.","authors":"Sarah Kucenas, Pernelle Pulh, Piotr Topilko, Cody J Smith","doi":"10.1101/cshperspect.a041369","DOIUrl":"10.1101/cshperspect.a041369","url":null,"abstract":"<p><p>Neural cells are segregated into their distinct central nervous system (CNS) and peripheral nervous system (PNS) domains. However, at specialized regions of the nervous system known as transition zones (TZs), glial cells from both the CNS and PNS are uniquely present with other specialized TZ cells. Herein we review the current understanding of vertebrate TZ cells. The article discusses the distinct cells at vertebrate TZs with a focus on cells that are located on the peripheral side of the spinal cord TZs. In addition to the developmental origin and differentiation of these TZ cells, the functional importance and the role of TZ cells in disease are highlighted. This article also reviews the common and unique features of vertebrate TZs from zebrafish to mice. We propose challenges and open questions in the field that could lead to exciting insights in the field of glial biology.</p>","PeriodicalId":10494,"journal":{"name":"Cold Spring Harbor perspectives in biology","volume":" ","pages":""},"PeriodicalIF":6.9,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11864109/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141300241","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
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