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Legumes and Linguistics: Translating Mendel for the Twenty-First Century. 豆科植物与语言学：为二十一世纪翻译孟德尔。
IF 6.9 2区 生物学
Cold Spring Harbor perspectives in biology Pub Date : 2024-12-02 DOI: 10.1101/cshperspect.a041811
Kersten Hall, Staffan Müller-Wille
{"title":"Legumes and Linguistics: Translating Mendel for the Twenty-First Century.","authors":"Kersten Hall, Staffan Müller-Wille","doi":"10.1101/cshperspect.a041811","DOIUrl":"10.1101/cshperspect.a041811","url":null,"abstract":"<p><p>Gregor Mendel's seminal publication, \"Versuche über Pflanzen-Hybriden\" (\"Experiments on Plant Hybrids\"), which appeared in 1866, is regarded as one of the founding documents of genetics and has therefore been translated several times. In 2016, with the support of the British Society for the History of Science (BSHS), we produced a new online translation of Mendel's paper, alongside a facsimile and transcription of the original German text and an extensive commentary that offered historical and linguistic insights into nearly every sentence. The translation and commentary were made available on the BSHS website and 4 years later were published as a book by Masaryk University Press. In this paper, we build on the introduction to our translation to reflect and include some important developments in the scholarship around Mendel that have taken place since the translation was first published.</p>","PeriodicalId":10494,"journal":{"name":"Cold Spring Harbor perspectives in biology","volume":" ","pages":""},"PeriodicalIF":6.9,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610751/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142343017","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
Telomerase in Cancer Therapeutics. 癌症治疗中的端粒酶。
IF 6.9 2区 生物学
Cold Spring Harbor perspectives in biology Pub Date : 2024-12-02 DOI: 10.1101/cshperspect.a041703
Silvia Siteni, Anthony Grichuk, Jerry W Shay
{"title":"Telomerase in Cancer Therapeutics.","authors":"Silvia Siteni, Anthony Grichuk, Jerry W Shay","doi":"10.1101/cshperspect.a041703","DOIUrl":"10.1101/cshperspect.a041703","url":null,"abstract":"<p><p>While silent in normal differentiated human tissues, telomerase is reactivated in most human cancers. Thus, telomerase is an almost universal oncology target. This update describes preclinical and clinical advancements using a variety of approaches to target telomerase. These include direct telomerase inhibitors, G-quadruplex DNA-interacting ligands, telomerase-based vaccine platforms, telomerase promoter-driven attenuated viruses, and telomerase-mediated telomere targeting approaches. While imetelstat has been recently approved by the Food and Drug Administration (FDA), several other approaches are in late-stage clinical development. The pros and cons of the major approaches will be reviewed.</p>","PeriodicalId":10494,"journal":{"name":"Cold Spring Harbor perspectives in biology","volume":" ","pages":""},"PeriodicalIF":6.9,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610755/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142343019","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
Telomere Dynamics in Human Health and Disease. 人类健康和疾病中的端粒动态。
IF 6.9 2区 生物学
Cold Spring Harbor perspectives in biology Pub Date : 2024-11-25 DOI: 10.1101/cshperspect.a041701
Duncan M Baird
{"title":"Telomere Dynamics in Human Health and Disease.","authors":"Duncan M Baird","doi":"10.1101/cshperspect.a041701","DOIUrl":"https://doi.org/10.1101/cshperspect.a041701","url":null,"abstract":"<p><p>Telomere function is critical for genomic stability; in the context of a functional TP53 response, telomere erosion leads to a G<sub>1</sub>/S cell-cycle arrest and the induction of replicative senescence, a process that is considered to underpin the ageing process in long-lived species. Abrogation of the TP53 pathway allows for continued cell division, telomere erosion, and the complete loss of telomere function; the ensuing genomic instability facilitates clonal evolution and malignant progression. Telomeres display extensive length heterogeneity in the population that is established at birth, and this affects the individual risk of a broad range of diseases, including cardiovascular disease and cancer. In this perspective, I discuss telomere length heterogeneity at the levels of the population, individual, and cell, and consider how the dynamics of these essential chromosomal structures contribute to human disease.</p>","PeriodicalId":10494,"journal":{"name":"Cold Spring Harbor perspectives in biology","volume":" ","pages":""},"PeriodicalIF":6.9,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142715551","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
Four-Dimensional Bioprinting: Harnessing Active Mechanics to Build with Living Inks. 四维生物打印：利用活性力学构建活墨。
IF 6.9 2区 生物学
Cold Spring Harbor perspectives in biology Pub Date : 2024-11-25 DOI: 10.1101/cshperspect.a041557
Honesty Kim, Grace Hu, Austin J Graham, Grace X Gu, Zev J Gartner
{"title":"Four-Dimensional Bioprinting: Harnessing Active Mechanics to Build with Living Inks.","authors":"Honesty Kim, Grace Hu, Austin J Graham, Grace X Gu, Zev J Gartner","doi":"10.1101/cshperspect.a041557","DOIUrl":"https://doi.org/10.1101/cshperspect.a041557","url":null,"abstract":"<p><p>Three-dimensional (3D) printing can be beneficial to tissue engineers and the regenerative medicine community because of its potential to rapidly build elaborate 3D structures from cellular and material inks. However, predicting changes to the structure and pattern of printed tissues arising from the mechanical activity of constituent cells is technically and conceptually challenging. This perspective is targeted to scientists and engineers interested in 3D bioprinting, but from the point of view of cells and tissues as mechanically active living materials. The dynamic forces generated by cells present unique challenges compared to conventional manufacturing modalities but also offer profound opportunities through their capacity to self-organize. Consideration of self-organization following 3D printing takes the design and execution of bioprinting into the fourth dimension of cellular activity. We therefore propose a framework for dynamic bioprinting that spatiotemporally guides the underlying biology through reconfigurable material interfaces controlled by 3D printers.</p>","PeriodicalId":10494,"journal":{"name":"Cold Spring Harbor perspectives in biology","volume":" ","pages":""},"PeriodicalIF":6.9,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142715549","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
The Significance of Mendelism for Evolutionary Theory: A Reassessment. 孟德尔主义对进化论的意义：重新评估。
IF 6.9 2区 生物学
Cold Spring Harbor perspectives in biology Pub Date : 2024-11-25 DOI: 10.1101/cshperspect.a041837
Samir Okasha
{"title":"The Significance of Mendelism for Evolutionary Theory: A Reassessment.","authors":"Samir Okasha","doi":"10.1101/cshperspect.a041837","DOIUrl":"https://doi.org/10.1101/cshperspect.a041837","url":null,"abstract":"<p><p>It is well-known that the rediscovery of Mendelian genetics at the turn of twentieth century offered Darwin's theory a much-needed lifeline, by showing how Fleeming Jenkins' famous \"blending\" objection could be rebutted. However, Mendelism has another fortuitous consequence for evolutionary biology that is less widely appreciated. By bequeathing the notion of allelism to biology, Mendelism shows how two difficult conceptual issues for evolutionary theory can be resolved. The first issue concerns the notion of population. By definition, evolutionary change is change in the composition of a population, but what is the relevant definition of \"population\"? The second issue concerns Darwin's notion of \"struggle for existence.\" Is this struggle an essential part of evolution by natural selection or not? In a Mendelian population, these issues can be simply resolved, since the selective competition is at root between alleles at a locus, who are necessarily playing a zero-sum game, rather than between organisms, who may or may not be doing so.</p>","PeriodicalId":10494,"journal":{"name":"Cold Spring Harbor perspectives in biology","volume":" ","pages":""},"PeriodicalIF":6.9,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142715582","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
Plant Breeding and the Origins of Genetics. 植物育种与遗传学的起源。
IF 6.9 2区 生物学
Cold Spring Harbor perspectives in biology Pub Date : 2024-11-25 DOI: 10.1101/cshperspect.a041714
Nils Roll-Hansen
{"title":"Plant Breeding and the Origins of Genetics.","authors":"Nils Roll-Hansen","doi":"10.1101/cshperspect.a041714","DOIUrl":"https://doi.org/10.1101/cshperspect.a041714","url":null,"abstract":"<p><p>This paper argues that the historiography of genetics ∼1900, the formation period of modern science, is too narrow. It lacks attention to plant breeding. Perhaps this omission also narrows the present understanding of fundamental ideas like the genotype/phenotype distinction and the gene concept? There is a mythical story still told in textbooks and at anniversaries: As modern genetics started with the rediscovery of Mendel's laws in 1900, a fateful controversy over continuous or discontinuous variation of heredity between biometricians and Mendelians. Discontinuity appeared as a threat to the Darwinian theory of evolution by natural selection. Only by the 1920s was the problem solved by a theory of population genetics founded on the chromosome theory of heredity.<sup>1</sup> However, in plant breeding ∼1900 ideas of heredity and evolution were closely intertwined, and the combination of discontinuous heredity with continuous Darwinian evolution was an obvious option.</p>","PeriodicalId":10494,"journal":{"name":"Cold Spring Harbor perspectives in biology","volume":" ","pages":""},"PeriodicalIF":6.9,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142715550","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
The Roles of Transient Receptor Potential (TRP) Channels Underlying Aberrant Calcium Signaling in Blood-Retinal Barrier Dysfunction. 瞬态受体电位（TRP）通道在血-视网膜屏障功能障碍中的作用--钙信号传递异常的基础
IF 6.9 2区 生物学
Cold Spring Harbor perspectives in biology Pub Date : 2024-11-25 DOI: 10.1101/cshperspect.a041763
Silvia Dragoni, Francesco Moccia, Martin D Bootman
{"title":"The Roles of Transient Receptor Potential (TRP) Channels Underlying Aberrant Calcium Signaling in Blood-Retinal Barrier Dysfunction.","authors":"Silvia Dragoni, Francesco Moccia, Martin D Bootman","doi":"10.1101/cshperspect.a041763","DOIUrl":"https://doi.org/10.1101/cshperspect.a041763","url":null,"abstract":"<p><p>The inner blood-retinal barrier (iBRB) protects the retinal vasculature from the peripheral circulation. Endothelial cells (ECs) are the core component of the iBRB; their close apposition and linkage via tight junctions limit the passage of fluids, proteins, and cells from the bloodstream to the parenchyma. Dysfunction of the iBRB is a hallmark of many retinal disorders. Vascular endothelial growth factor (VEGF) has been identified as the primary driver leading to a dysfunctional iBRB, thereby becoming the main target for therapy. However, a complete understanding of the molecular mechanisms underlying iBRB dysfunction is elusive and alternative therapeutic targets remain unexplored. Calcium (Ca<sup>2+</sup>) is a universal intracellular messenger whose homeostasis and dynamics are dysregulated in many pathological disorders. Among the extensive components of the cellular Ca<sup>2+</sup>-signaling toolkit, cation-selective transient receptor potential (TRP) channels are broadly involved in cell physiology and disease and, therefore, are widely studied as possible targets for therapy. Albeit that TRP channels have been discovered in the photoreceptors of <i>Drosophila</i> and have been studied in the neuroretina, their presence and function in the iBRB have only recently emerged. Within this article, we discuss the structure and functions of the iBRB with a particular focus on Ca<sup>2+</sup> signaling in retinal ECs and highlight the potential of TRP channels as new targets for retinal diseases.</p>","PeriodicalId":10494,"journal":{"name":"Cold Spring Harbor perspectives in biology","volume":" ","pages":""},"PeriodicalIF":6.9,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142715581","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
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 : 2024-11-05 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":"https://doi.org/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":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","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 : 2024-11-05 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":"https://doi.org/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":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Teaching School Genetics in the 2020s: Why "Naive" Mendelian Genetics Has to Go. 2020 年代的学校遗传学教学：为什么 "天真 "的孟德尔遗传学必须退出历史舞台？
IF 6.9 2区 生物学
Cold Spring Harbor perspectives in biology Pub Date : 2024-11-05 DOI: 10.1101/cshperspect.a041679
Kostas Kampourakis
{"title":"Teaching School Genetics in the 2020s: Why \"Naive\" Mendelian Genetics Has to Go.","authors":"Kostas Kampourakis","doi":"10.1101/cshperspect.a041679","DOIUrl":"https://doi.org/10.1101/cshperspect.a041679","url":null,"abstract":"<p><p>Whereas Mendelian genetics is an important research program in the life sciences, its school version is problematic. On the one hand, it contains stereotypical representations of Gregor Mendel's work that misrepresent his findings and the historical context. This deprives students from gaining an authentic picture of how science is done. On the other hand, what most students end up learning in schools are extremely simplistic accounts of heredity, whereby alleles directly control traits and phenotypes, and thus exclusively depend on which allele an individual has. Such oversimplifications of Mendelian genetics as those that we still teach in schools were exploited by ideologues in the beginning of the twentieth century to provide the presumed \"scientific\" basis for eugenics. This paper addresses these problems of the school version of Mendelian genetics, which I call \"naive\" Mendelian genetics. It also proposes a shift in school education from teaching how the science of genetics is done using model systems to teaching the complexities of development through which heredity is materialized.</p>","PeriodicalId":10494,"journal":{"name":"Cold Spring Harbor perspectives in biology","volume":" ","pages":""},"PeriodicalIF":6.9,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142582605","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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