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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
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
Mitochondrial Maintenance in Skeletal Muscle. 骨骼肌中的线粒体维护
IF 6.9 2区 生物学
Cold Spring Harbor perspectives in biology Pub Date : 2024-10-21 DOI: 10.1101/cshperspect.a041514
Laura M de Smalen, Christoph Handschin
{"title":"Mitochondrial Maintenance in Skeletal Muscle.","authors":"Laura M de Smalen, Christoph Handschin","doi":"10.1101/cshperspect.a041514","DOIUrl":"https://doi.org/10.1101/cshperspect.a041514","url":null,"abstract":"<p><p>Skeletal muscle is one of the tissues with the highest range of variability in metabolic rate, which, to a large extent, is critically dependent on tightly controlled and fine-tuned mitochondrial activity. Besides energy production, other mitochondrial processes, including calcium buffering, generation of heat, redox and reactive oxygen species homeostasis, intermediate metabolism, substrate biosynthesis, and anaplerosis, are essential for proper muscle contractility and performance. It is thus not surprising that adequate mitochondrial function is ensured by a plethora of mechanisms, aimed at balancing mitochondrial biogenesis, proteostasis, dynamics, and degradation. The fine-tuning of such maintenance mechanisms ranges from proper folding or degradation of individual proteins to the elimination of whole organelles, and in extremis, apoptosis of cells. In this review, the present knowledge on these processes in the context of skeletal muscle biology is summarized. Moreover, existing gaps in knowledge are highlighted, alluding to potential future studies and therapeutic implications.</p>","PeriodicalId":10494,"journal":{"name":"Cold Spring Harbor perspectives in biology","volume":" ","pages":""},"PeriodicalIF":6.9,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142459789","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
Astrocyte Calcium Signaling. 星形胶质细胞的钙信号转导
IF 6.9 2区 生物学
Cold Spring Harbor perspectives in biology Pub Date : 2024-10-01 DOI: 10.1101/cshperspect.a041353
Misha B Ahrens, Baljit S Khakh, Kira E Poskanzer
{"title":"Astrocyte Calcium Signaling.","authors":"Misha B Ahrens, Baljit S Khakh, Kira E Poskanzer","doi":"10.1101/cshperspect.a041353","DOIUrl":"10.1101/cshperspect.a041353","url":null,"abstract":"<p><p>Astrocytes are predominant glial cells that tile the central nervous system and participate in well-established functional and morphological interactions with neurons, blood vessels, and other glia. These ubiquitous cells display rich intracellular Ca<sup>2+</sup> signaling, which has now been studied for over 30 years. In this review, we provide a summary and perspective of recent progress concerning the study of astrocyte intracellular Ca<sup>2+</sup> signaling as well as discussion of its potential functions. Progress has occurred in the areas of imaging, silencing, activating, and analyzing astrocyte Ca<sup>2+</sup> signals. These insights have collectively permitted exploration of the relationships of astrocyte Ca<sup>2+</sup> signals to neural circuit function and behavior in a variety of species. We summarize these aspects along with a framework for mechanistically interpreting behavioral studies to identify directly causal effects. We finish by providing a perspective on new avenues of research concerning astrocyte Ca<sup>2+</sup> signaling.</p>","PeriodicalId":10494,"journal":{"name":"Cold Spring Harbor perspectives in biology","volume":" ","pages":""},"PeriodicalIF":6.9,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11444304/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141070794","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
Synthesis and Scope of the Role of Postmating Prezygotic Isolation in Speciation. 交配后同种前隔离在物种形成中的作用的综合与范围。
IF 6.9 2区 生物学
Cold Spring Harbor perspectives in biology Pub Date : 2024-10-01 DOI: 10.1101/cshperspect.a041429
Martin D Garlovsky, Emma Whittington, Tomas Albrecht, Henry Arenas-Castro, Dean M Castillo, Graeme L Keais, Erica L Larson, Leonie C Moyle, Melissa Plakke, Radka Reifová, Rhonda R Snook, Murielle Ålund, Alexandra A-T Weber
{"title":"Synthesis and Scope of the Role of Postmating Prezygotic Isolation in Speciation.","authors":"Martin D Garlovsky, Emma Whittington, Tomas Albrecht, Henry Arenas-Castro, Dean M Castillo, Graeme L Keais, Erica L Larson, Leonie C Moyle, Melissa Plakke, Radka Reifová, Rhonda R Snook, Murielle Ålund, Alexandra A-T Weber","doi":"10.1101/cshperspect.a041429","DOIUrl":"10.1101/cshperspect.a041429","url":null,"abstract":"<p><p>How barriers to gene flow arise and are maintained are key questions in evolutionary biology. Speciation research has mainly focused on barriers that occur either before mating or after zygote formation. In comparison, postmating prezygotic (PMPZ) isolation-a barrier that acts after gamete release but before zygote formation-is less frequently investigated but may hold a unique role in generating biodiversity. Here we discuss the distinctive features of PMPZ isolation, including the primary drivers and molecular mechanisms underpinning PMPZ isolation. We then present the first comprehensive survey of PMPZ isolation research, revealing that it is a widespread form of prezygotic isolation across eukaryotes. The survey also exposes obstacles in studying PMPZ isolation, in part attributable to the challenges involved in directly measuring PMPZ isolation and uncovering its causal mechanisms. Finally, we identify outstanding knowledge gaps and provide recommendations for improving future research on PMPZ isolation. This will allow us to better understand the nature of this often-neglected reproductive barrier and its contribution to speciation.</p>","PeriodicalId":10494,"journal":{"name":"Cold Spring Harbor perspectives in biology","volume":" ","pages":""},"PeriodicalIF":6.9,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11444258/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139048452","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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