{"title":"Convergent evolution of prickles across crops","authors":"Henry Ertl","doi":"10.1038/s41576-024-00771-5","DOIUrl":"10.1038/s41576-024-00771-5","url":null,"abstract":"Satterlee et al. employ several approaches to demonstrate that prickle evolution has a common genetic basis among several plant lineages.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":null,"pages":null},"PeriodicalIF":39.1,"publicationDate":"2024-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142036402","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Mosaic variegated aneuploidy in development, ageing and cancer","authors":"Marcos Malumbres, Carolina Villarroya-Beltri","doi":"10.1038/s41576-024-00762-6","DOIUrl":"https://doi.org/10.1038/s41576-024-00762-6","url":null,"abstract":"<p>Mosaic variegated aneuploidy (MVA) is a rare condition in which abnormal chromosome counts (that is, aneuploidies), affecting different chromosomes in each cell (making it variegated) are found only in a certain number of cells (making it mosaic). MVA is characterized by various developmental defects and, despite its rarity, presents a unique clinical scenario to understand the consequences of chromosomal instability and copy number variation in humans. Research from patients with MVA, genetically engineered mouse models and functional cellular studies have found the genetic causes to be mutations in components of the spindle-assembly checkpoint as well as in related proteins involved in centrosome dynamics during mitosis. MVA is accompanied by tumour susceptibility (depending on the genetic basis) as well as cellular and systemic stress, including chronic immune response and the associated clinical implications.</p>","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":null,"pages":null},"PeriodicalIF":42.7,"publicationDate":"2024-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142013800","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Multifunctional histone variants in genome function","authors":"Lee H. Wong, David J. Tremethick","doi":"10.1038/s41576-024-00759-1","DOIUrl":"https://doi.org/10.1038/s41576-024-00759-1","url":null,"abstract":"<p>Histones are integral components of eukaryotic chromatin that have a pivotal role in the organization and function of the genome. The dynamic regulation of chromatin involves the incorporation of histone variants, which can dramatically alter its structural and functional properties. Contrary to an earlier view that limited individual histone variants to specific genomic functions, new insights have revealed that histone variants exert multifaceted roles involving all aspects of genome function, from governing patterns of gene expression at precise genomic loci to participating in genome replication, repair and maintenance. This conceptual change has led to a new understanding of the intricate interplay between chromatin and DNA-dependent processes and how this connection translates into normal and abnormal cellular functions.</p>","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":null,"pages":null},"PeriodicalIF":42.7,"publicationDate":"2024-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141973775","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"DNA methylation in mammalian development and disease","authors":"Zachary D. Smith, Sara Hetzel, Alexander Meissner","doi":"10.1038/s41576-024-00760-8","DOIUrl":"https://doi.org/10.1038/s41576-024-00760-8","url":null,"abstract":"<p>The DNA methylation field has matured from a phase of discovery and genomic characterization to one seeking deeper functional understanding of how this modification contributes to development, ageing and disease. In particular, the past decade has seen many exciting mechanistic discoveries that have substantially expanded our appreciation for how this generic, evolutionarily ancient modification can be incorporated into robust epigenetic codes. Here, we summarize the current understanding of the distinct DNA methylation landscapes that emerge over the mammalian lifespan and discuss how they interact with other regulatory layers to support diverse genomic functions. We then review the rising interest in alternative patterns found during senescence and the somatic transition to cancer. Alongside advancements in single-cell and long-read sequencing technologies, the collective insights made across these fields offer new opportunities to connect the biochemical and genetic features of DNA methylation to cell physiology, developmental potential and phenotype.</p>","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":null,"pages":null},"PeriodicalIF":42.7,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141918822","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Position-dependent effects of transcription factor binding","authors":"Kirsty Minton","doi":"10.1038/s41576-024-00769-z","DOIUrl":"10.1038/s41576-024-00769-z","url":null,"abstract":"Duttke et al. show that transcription factors have position-dependent effects relative to their distance from the transcription start site, which suggests that a ''spatial grammar'' could be used to encode multiple gene-regulatory programmes.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":null,"pages":null},"PeriodicalIF":39.1,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141918819","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Reconstructing generation intervals over time","authors":"Pablo Librado","doi":"10.1038/s41576-024-00766-2","DOIUrl":"10.1038/s41576-024-00766-2","url":null,"abstract":"In this Tools of the Trade article, Pablo Librado describes a novel computational method to infer the time between successive generations from genomic data, including ancient genomes, which offers new insights into the timing of evolutionary and demographic events.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":null,"pages":null},"PeriodicalIF":39.1,"publicationDate":"2024-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141891852","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Xuelan Chen, Albert S. Agustinus, Jun Li, Melody DiBona, Samuel F. Bakhoum
{"title":"Chromosomal instability as a driver of cancer progression","authors":"Xuelan Chen, Albert S. Agustinus, Jun Li, Melody DiBona, Samuel F. Bakhoum","doi":"10.1038/s41576-024-00761-7","DOIUrl":"https://doi.org/10.1038/s41576-024-00761-7","url":null,"abstract":"<p>Chromosomal instability (CIN) refers to an increased propensity of cells to acquire structural and numerical chromosomal abnormalities during cell division, which contributes to tumour genetic heterogeneity. CIN has long been recognized as a hallmark of cancer, and evidence over the past decade has strongly linked CIN to tumour evolution, metastasis, immune evasion and treatment resistance. Until recently, the mechanisms by which CIN propels cancer progression have remained elusive. Beyond the generation of genomic copy number heterogeneity, recent work has unveiled additional tumour-promoting consequences of abnormal chromosome segregation. These mechanisms include complex chromosomal rearrangements, epigenetic reprogramming and the induction of cancer cell-intrinsic inflammation, emphasizing the multifaceted role of CIN in cancer.</p>","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":null,"pages":null},"PeriodicalIF":42.7,"publicationDate":"2024-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141791103","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Epigenetic editing works like a CHARM","authors":"Kirsty Minton","doi":"10.1038/s41576-024-00765-3","DOIUrl":"10.1038/s41576-024-00765-3","url":null,"abstract":"Neumann, Bertozzi et al. describe a novel epigenetic editor termed CHARM and report its use to silence prion protein expression in the brain.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":null,"pages":null},"PeriodicalIF":39.1,"publicationDate":"2024-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141737017","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Evolution and regulation of animal sex chromosomes.","authors":"Zexian Zhu, Lubna Younas, Qi Zhou","doi":"10.1038/s41576-024-00757-3","DOIUrl":"https://doi.org/10.1038/s41576-024-00757-3","url":null,"abstract":"<p><p>Animal sex chromosomes typically carry the upstream sex-determining gene that triggers testis or ovary development and, in some species, are regulated by global dosage compensation in response to functional decay of the Y chromosome. Despite the importance of these pathways, they exhibit striking differences across species, raising fundamental questions regarding the mechanisms underlying their evolutionary turnover. Recent studies of non-model organisms, including insects, reptiles and teleosts, have yielded a broad view of the diversity of sex chromosomes that challenges established theories. Moreover, continued studies in model organisms with recently developed technologies have characterized the dynamics of sex determination and dosage compensation in three-dimensional nuclear space and at single-cell resolution. Here, we synthesize recent insights into sex chromosomes from a variety of species to review their evolutionary dynamics with respect to the canonical model, as well as their diverse mechanisms of regulation.</p>","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":null,"pages":null},"PeriodicalIF":39.1,"publicationDate":"2024-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141724029","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Programmable DNA rearrangements using bridge RNAs","authors":"Henry Ertl","doi":"10.1038/s41576-024-00763-5","DOIUrl":"10.1038/s41576-024-00763-5","url":null,"abstract":"Two studies in Nature reveal the mechanistic and structural properties of a family of mobile genetic elements that can be reprogrammed to engineer genome modifications.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":null,"pages":null},"PeriodicalIF":39.1,"publicationDate":"2024-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141597639","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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