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Gene therapy for deafness: we can do more
IF 42.7 1区 生物学
Nature Reviews Genetics Pub Date : 2024-12-18 DOI: 10.1038/s41576-024-00809-8
Yuxin Chen, Jiake Zhong, Yilai Shu
{"title":"Gene therapy for deafness: we can do more","authors":"Yuxin Chen, Jiake Zhong, Yilai Shu","doi":"10.1038/s41576-024-00809-8","DOIUrl":"https://doi.org/10.1038/s41576-024-00809-8","url":null,"abstract":"Challenges in the development of treatments for hereditary hearing loss include the exploration of the underlying pathological mechanisms, the comprehensive evaluation of safety and efficacy of gene therapies in clinical trials, the optimization of surgical approaches for drug delivery, and effective collaboration between industry and academia. Gene therapy for congenital deafness has made a breakthrough in recent clinical trials. However, more work is needed to develop successful treatments for hereditary hearing loss, as the authors argue in this Comment.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"23 1","pages":""},"PeriodicalIF":42.7,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142841456","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}
引用次数: 0
Genomic landscape of cancer in racially and ethnically diverse populations 不同种族和族裔人群的癌症基因组状况
IF 42.7 1区 生物学
Nature Reviews Genetics Pub Date : 2024-11-28 DOI: 10.1038/s41576-024-00796-w
Claire E. Thomas, Ulrike Peters
{"title":"Genomic landscape of cancer in racially and ethnically diverse populations","authors":"Claire E. Thomas, Ulrike Peters","doi":"10.1038/s41576-024-00796-w","DOIUrl":"https://doi.org/10.1038/s41576-024-00796-w","url":null,"abstract":"<p>Cancer incidence and mortality rates can vary widely among different racial and ethnic groups, attributed to a complex interplay of genetic, environmental and social factors. Recently, substantial progress has been made in investigating hereditary genetic risk factors and in characterizing tumour genomes. However, most research has been conducted in individuals of European ancestries and, increasingly, in individuals of Asian ancestries. The study of germline and somatic genetics in cancer across racial and ethnic groups using omics technologies offers opportunities to identify similarities and differences in both heritable traits and the molecular features of cancer genomes. An improved understanding of population-specific cancer genomics, as well as translation of those findings across populations, will help reduce cancer disparities and ensure that personalized medicine and public health approaches are equitable across racial and ethnic groups.</p>","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"71 1","pages":""},"PeriodicalIF":42.7,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142735585","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}
引用次数: 0
The maternal-to-zygotic transition: reprogramming of the cytoplasm and nucleus 母系向合子系的转变：细胞质和细胞核的重编程
IF 42.7 1区 生物学
Nature Reviews Genetics Pub Date : 2024-11-25 DOI: 10.1038/s41576-024-00792-0
Mina L. Kojima, Caroline Hoppe, Antonio J. Giraldez
{"title":"The maternal-to-zygotic transition: reprogramming of the cytoplasm and nucleus","authors":"Mina L. Kojima, Caroline Hoppe, Antonio J. Giraldez","doi":"10.1038/s41576-024-00792-0","DOIUrl":"https://doi.org/10.1038/s41576-024-00792-0","url":null,"abstract":"<p>A fertilized egg is initially transcriptionally silent and relies on maternally provided factors to initiate development. For embryonic development to proceed, the oocyte-inherited cytoplasm and the nuclear chromatin need to be reprogrammed to create a permissive environment for zygotic genome activation (ZGA). During this maternal-to-zygotic transition (MZT), which is conserved in metazoans, transient totipotency is induced and zygotic transcription is initiated to form the blueprint for future development. Recent technological advances have enhanced our understanding of MZT regulation, revealing common themes across species and leading to new fundamental insights about transcription, mRNA decay and translation.</p>","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"24 1","pages":""},"PeriodicalIF":42.7,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142696617","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}
引用次数: 0
The lives of cells, recorded 记录细胞的生命
IF 42.7 1区 生物学
Nature Reviews Genetics Pub Date : 2024-11-25 DOI: 10.1038/s41576-024-00788-w
Amjad Askary, Wei Chen, Junhong Choi, Lucia Y. Du, Michael B. Elowitz, James A. Gagnon, Alexander F. Schier, Sophie Seidel, Jay Shendure, Tanja Stadler, Martin Tran
{"title":"The lives of cells, recorded","authors":"Amjad Askary, Wei Chen, Junhong Choi, Lucia Y. Du, Michael B. Elowitz, James A. Gagnon, Alexander F. Schier, Sophie Seidel, Jay Shendure, Tanja Stadler, Martin Tran","doi":"10.1038/s41576-024-00788-w","DOIUrl":"https://doi.org/10.1038/s41576-024-00788-w","url":null,"abstract":"<p>A paradigm for biology is emerging in which cells can be genetically programmed to write their histories into their own genomes. These records can subsequently be read, and the cellular histories reconstructed, which for each cell could include a record of its lineage relationships, extrinsic influences, internal states and physical locations, over time. DNA recording has the potential to transform the way that we study developmental and disease processes. Recent advances in genome engineering are driving the development of systems for DNA recording, and meanwhile single-cell and spatial omics technologies increasingly enable the recovery of the recorded information. Combined with advances in computational and phylogenetic inference algorithms, the DNA recording paradigm is beginning to bear fruit. In this Perspective, we explore the rationale and technical basis of DNA recording, what aspects of cellular biology might be recorded and how, and the types of discovery that we anticipate this paradigm will enable.</p>","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"16 1","pages":""},"PeriodicalIF":42.7,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142696618","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}
引用次数: 0
Biobanking with genetics shapes precision medicine and global health 生物库与遗传学塑造精准医疗和全球健康
IF 42.7 1区 生物学
Nature Reviews Genetics Pub Date : 2024-11-20 DOI: 10.1038/s41576-024-00794-y
C. Scott Gallagher, Geoffrey S. Ginsburg, Anjené Musick
{"title":"Biobanking with genetics shapes precision medicine and global health","authors":"C. Scott Gallagher, Geoffrey S. Ginsburg, Anjené Musick","doi":"10.1038/s41576-024-00794-y","DOIUrl":"https://doi.org/10.1038/s41576-024-00794-y","url":null,"abstract":"<p>Precision medicine provides patients with access to personally tailored treatments based on individual-level data. However, developing personalized therapies requires analyses with substantial statistical power to map genetic and epidemiologic associations that ultimately create models informing clinical decisions. As one solution, biobanks have emerged as large-scale, longitudinal cohort studies with long-term storage of biological specimens and health information, including electronic health records and participant survey responses. By providing access to individual-level data for genotype–phenotype mapping efforts, pharmacogenomic studies, polygenic risk score assessments and rare variant analyses, biobanks support ongoing and future precision medicine research. Notably, due in part to the geographical enrichment of biobanks in Western Europe and North America, European ancestries have become disproportionately over-represented in precision medicine research. Herein, we provide a genetics-focused review of biobanks from around the world that are in pursuit of supporting precision medicine. We discuss the limitations of their designs, ongoing efforts to diversify genomics research and strategies to maximize the benefits of research leveraging biobanks for all.</p>","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"99 1","pages":""},"PeriodicalIF":42.7,"publicationDate":"2024-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142673332","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}
引用次数: 0
Plant pattern recognition receptors: from evolutionary insight to engineering 植物模式识别受体：从进化论到工程学
IF 42.7 1区 生物学
Nature Reviews Genetics Pub Date : 2024-11-11 DOI: 10.1038/s41576-024-00793-z
Simon Snoeck, Oliver Johanndrees, Thorsten Nürnberger, Cyril Zipfel
{"title":"Plant pattern recognition receptors: from evolutionary insight to engineering","authors":"Simon Snoeck, Oliver Johanndrees, Thorsten Nürnberger, Cyril Zipfel","doi":"10.1038/s41576-024-00793-z","DOIUrl":"https://doi.org/10.1038/s41576-024-00793-z","url":null,"abstract":"<p>The plant immune system relies on germline-encoded pattern recognition receptors (PRRs) that sense foreign and plant-derived molecular patterns, and signal health threats. Genomic and pangenomic data sets provide valuable insights into the evolution of PRRs and their molecular triggers, which is furthering our understanding of plant–pathogen co-evolution and convergent evolution. Moreover, in silico and in vivo methods of PRR identification have accelerated the characterization of receptor–ligand complexes, and advances in protein structure prediction algorithms are revealing novel PRR sensor functions. Harnessing these recent advances to engineer PRRs presents an opportunity to enhance plant disease resistance against a broad spectrum of pathogens, enabling more sustainable agricultural practices. This Review summarizes both established and innovative approaches to leverage genomic data and translate resulting evolutionary insights into engineering PRR recognition specificities.</p>","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"10 1","pages":""},"PeriodicalIF":42.7,"publicationDate":"2024-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142598302","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}
引用次数: 0
Genetic conflict and its resolution between the sexes 两性之间的基因冲突及其解决方法
IF 42.7 1区 生物学
Nature Reviews Genetics Pub Date : 2024-11-06 DOI: 10.1038/s41576-024-00802-1
Abderrahman Khila
{"title":"Genetic conflict and its resolution between the sexes","authors":"Abderrahman Khila","doi":"10.1038/s41576-024-00802-1","DOIUrl":"https://doi.org/10.1038/s41576-024-00802-1","url":null,"abstract":"Abderrahman Khila highlights an important 2015 paper by Barson et al. that demonstrated how sexual conflict in Atlantic salmon affects genetic evolution.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"68 1","pages":""},"PeriodicalIF":42.7,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142588683","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}
引用次数: 0
Exploring biodiversity through museomics 通过博物馆学探索生物多样性
IF 42.7 1区 生物学
Nature Reviews Genetics Pub Date : 2024-11-06 DOI: 10.1038/s41576-024-00801-2
Charles C. Davis, Sandra Knapp
{"title":"Exploring biodiversity through museomics","authors":"Charles C. Davis, Sandra Knapp","doi":"10.1038/s41576-024-00801-2","DOIUrl":"https://doi.org/10.1038/s41576-024-00801-2","url":null,"abstract":"Natural history collections are unparalleled resources for studying biodiversity across multiple dimensions. As multi-omic tools are being applied to museum specimens, the emerging field of museomics is undergoing a rapid and exciting transformation, with new opportunities, challenges and confrontations with past legacies. In this Comment, the authors showcase how the emerging field of museomics — the application of multi-omic tools to natural history collections — is undergoing a rapid and exciting transformation, with new opportunities, challenges and confrontations with past legacies.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"110 1","pages":""},"PeriodicalIF":42.7,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142588684","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}
引用次数: 0
The design and engineering of synthetic genomes 合成基因组的设计与工程
IF 42.7 1区 生物学
Nature Reviews Genetics Pub Date : 2024-11-06 DOI: 10.1038/s41576-024-00786-y
Joshua S. James, Junbiao Dai, Wei Leong Chew, Yizhi Cai
{"title":"The design and engineering of synthetic genomes","authors":"Joshua S. James, Junbiao Dai, Wei Leong Chew, Yizhi Cai","doi":"10.1038/s41576-024-00786-y","DOIUrl":"https://doi.org/10.1038/s41576-024-00786-y","url":null,"abstract":"<p>Synthetic genomics seeks to design and construct entire genomes to mechanistically dissect fundamental questions of genome function and to engineer organisms for diverse applications, including bioproduction of high-value chemicals and biologics, advanced cell therapies, and stress-tolerant crops. Recent progress has been fuelled by advancements in DNA synthesis, assembly, delivery and editing. Computational innovations, such as the use of artificial intelligence to provide prediction of function, also provide increasing capabilities to guide synthetic genome design and construction. However, translating synthetic genome-scale projects from idea to implementation remains highly complex. Here, we aim to streamline this implementation process by comprehensively reviewing the strategies for design, construction, delivery, debugging and tailoring of synthetic genomes as well as their potential applications.</p>","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"36 1","pages":""},"PeriodicalIF":42.7,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142588685","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}
引用次数: 0
Slide-tags enables spatial single-nucleus sequencing 滑动标签实现空间单核测序
IF 42.7 1区 生物学
Nature Reviews Genetics Pub Date : 2024-11-04 DOI: 10.1038/s41576-024-00797-9
Andrew J. C. Russell
{"title":"Slide-tags enables spatial single-nucleus sequencing","authors":"Andrew J. C. Russell","doi":"10.1038/s41576-024-00797-9","DOIUrl":"https://doi.org/10.1038/s41576-024-00797-9","url":null,"abstract":"In this Tools of the Trade article, Andrew Russell describes Slide-tags, a method for scalable, spatially resolved single-nucleus sequencing.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"69 1","pages":""},"PeriodicalIF":42.7,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142574463","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}
引用次数: 0
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