Nature Reviews Genetics最新文献_第10页

Short tandem repeats — how microsatellites became the currency of forensic genetics 短串联重复序列--微卫星如何成为法医遗传学的通行证

IF 42.7 1区生物学

Nature Reviews Genetics Pub Date : 2024-03-11 DOI: 10.1038/s41576-024-00721-1

Bruce Budowle, Antti Sajantila

引用次数: 0

Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications 短串联重复序列的序列组成变化：异质性、检测、机制和临床意义

IF 42.7 1区生物学

Nature Reviews Genetics Pub Date : 2024-03-11 DOI: 10.1038/s41576-024-00696-z

Indhu-Shree Rajan-Babu, Egor Dolzhenko, Michael A. Eberle, Jan M. Friedman

{"title":"Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications","authors":"Indhu-Shree Rajan-Babu, Egor Dolzhenko, Michael A. Eberle, Jan M. Friedman","doi":"10.1038/s41576-024-00696-z","DOIUrl":"10.1038/s41576-024-00696-z","url":null,"abstract":"Short tandem repeats (STRs) are a class of repetitive elements, composed of tandem arrays of 1–6 base pair sequence motifs, that comprise a substantial fraction of the human genome. STR expansions can cause a wide range of neurological and neuromuscular conditions, known as repeat expansion disorders, whose age of onset, severity, penetrance and/or clinical phenotype are influenced by the length of the repeats and their sequence composition. The presence of non-canonical motifs, depending on the type, frequency and position within the repeat tract, can alter clinical outcomes by modifying somatic and intergenerational repeat stability, gene expression and mutant transcript-mediated and/or protein-mediated toxicities. Here, we review the diverse structural conformations of repeat expansions, technological advances for the characterization of changes in sequence composition, their clinical correlations and the impact on disease mechanisms. This Review highlights the diversity in sequence composition of disease-related short tandem repeats. The authors discuss how to detect non-canonical motifs in repeat sequences from sequencing data and review the molecular and clinical consequences of sequence composition changes.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"25 7","pages":"476-499"},"PeriodicalIF":42.7,"publicationDate":"2024-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140096929","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

Genetics of chronic respiratory disease 慢性呼吸系统疾病的遗传学。

IF 39.1 1区生物学

Nature Reviews Genetics Pub Date : 2024-03-06 DOI: 10.1038/s41576-024-00695-0

Ian Sayers, Catherine John, Jing Chen, Ian P. Hall

{"title":"Genetics of chronic respiratory disease","authors":"Ian Sayers, Catherine John, Jing Chen, Ian P. Hall","doi":"10.1038/s41576-024-00695-0","DOIUrl":"10.1038/s41576-024-00695-0","url":null,"abstract":"Chronic respiratory diseases, such as chronic obstructive pulmonary disease (COPD), asthma and interstitial lung diseases are frequently occurring disorders with a polygenic basis that account for a large global burden of morbidity and mortality. Recent large-scale genetic epidemiology studies have identified associations between genetic variation and individual respiratory diseases and linked specific genetic variants to quantitative traits related to lung function. These associations have improved our understanding of the genetic basis and mechanisms underlying common lung diseases. Moreover, examining the overlap between genetic associations of different respiratory conditions, along with evidence for gene–environment interactions, has yielded additional biological insights into affected molecular pathways. This genetic information could inform the assessment of respiratory disease risk and contribute to stratified treatment approaches. In this Review, Sayers et al. summarize findings from recent large-scale genetic epidemiology studies on the genetic underpinnings of chronic respiratory diseases. Furthermore, they outline how insights gained from such studies can improve treatment approaches.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"25 8","pages":"534-547"},"PeriodicalIF":39.1,"publicationDate":"2024-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140049949","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

How ancient genes form animal body plans 远古基因如何形成动物身体结构

IF 42.7 1区生物学

Nature Reviews Genetics Pub Date : 2024-03-04 DOI: 10.1038/s41576-024-00717-x

Hajk-Georg Drost

引用次数: 0

Changes in cell-cycle rate drive diverging cell fates 细胞周期速率的变化驱动着细胞命运的分化。

IF 42.7 1区生物学

Nature Reviews Genetics Pub Date : 2024-03-01 DOI: 10.1038/s41576-024-00714-0

Kate E. Galloway

引用次数: 0

Unveiling the expanding protein universe of life 揭开不断扩大的生命蛋白质宇宙的神秘面纱。

IF 42.7 1区生物学

Nature Reviews Genetics Pub Date : 2024-02-29 DOI: 10.1038/s41576-024-00716-y

Hajk-Georg Drost

引用次数: 0

Targeting and engineering long non-coding RNAs for cancer therapy 长非编码 RNA 的靶向和工程设计用于癌症治疗。

IF 39.1 1区生物学

Nature Reviews Genetics Pub Date : 2024-02-29 DOI: 10.1038/s41576-024-00693-2

Michela Coan, Simon Haefliger, Samir Ounzain, Rory Johnson

{"title":"Targeting and engineering long non-coding RNAs for cancer therapy","authors":"Michela Coan, Simon Haefliger, Samir Ounzain, Rory Johnson","doi":"10.1038/s41576-024-00693-2","DOIUrl":"10.1038/s41576-024-00693-2","url":null,"abstract":"RNA therapeutics (RNATx) aim to treat diseases, including cancer, by targeting or employing RNA molecules for therapeutic purposes. Amongst the most promising targets are long non-coding RNAs (lncRNAs), which regulate oncogenic molecular networks in a cell type-restricted manner. lncRNAs are distinct from protein-coding genes in important ways that increase their therapeutic potential yet also present hurdles to conventional clinical development. Advances in genome editing, oligonucleotide chemistry, multi-omics and RNA engineering are paving the way for efficient and cost-effective lncRNA-focused drug discovery pipelines. In this Review, we present the emerging field of lncRNA therapeutics for oncology, with emphasis on the unique strengths and challenges of lncRNAs within the broader RNATx framework. We outline the necessary steps for lncRNA therapeutics to deliver effective, durable, tolerable and personalized treatments for cancer. Therapeutics that target long non-coding RNAs (lncRNAs) are promising treatments for cancer. In this Review, the authors discuss how technological advances have helped improve drug discovery pipelines for lncRNAs and overview their strengths and challenges as oncological therapeutics.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"25 8","pages":"578-595"},"PeriodicalIF":39.1,"publicationDate":"2024-02-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139996914","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 continuum of transcription factor affinities 转录因子亲和力的连续性

IF 42.7 1区生物学

Nature Reviews Genetics Pub Date : 2024-02-27 DOI: 10.1038/s41576-024-00713-1

Carl G. de Boer

引用次数: 0

Plant pangenomes for crop improvement, biodiversity and evolution 用于作物改良、生物多样性和进化的植物泛基因组。

IF 39.1 1区生物学

Nature Reviews Genetics Pub Date : 2024-02-20 DOI: 10.1038/s41576-024-00691-4

Mona Schreiber, Murukarthick Jayakodi, Nils Stein, Martin Mascher

{"title":"Plant pangenomes for crop improvement, biodiversity and evolution","authors":"Mona Schreiber, Murukarthick Jayakodi, Nils Stein, Martin Mascher","doi":"10.1038/s41576-024-00691-4","DOIUrl":"10.1038/s41576-024-00691-4","url":null,"abstract":"Plant genome sequences catalogue genes and the genetic elements that regulate their expression. Such inventories further research aims as diverse as mapping the molecular basis of trait diversity in domesticated plants or inquiries into the origin of evolutionary innovations in flowering plants millions of years ago. The transformative technological progress of DNA sequencing in the past two decades has enabled researchers to sequence ever more genomes with greater ease. Pangenomes — complete sequences of multiple individuals of a species or higher taxonomic unit — have now entered the geneticists’ toolkit. The genomes of crop plants and their wild relatives are being studied with translational applications in breeding in mind. But pangenomes are applicable also in ecological and evolutionary studies, as they help classify and monitor biodiversity across the tree of life, deepen our understanding of how plant species diverged and show how plants adapt to changing environments or new selection pressures exerted by human beings. Plant pangenomes have had a transformative impact on crop enhancement, biodiversity conservation and evolutionary research. This Review delves into the application of plant pangenomes for understanding trait diversity, aiding breeding, biodiversity classification and monitoring, and illuminating evolutionary innovations.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"25 8","pages":"563-577"},"PeriodicalIF":39.1,"publicationDate":"2024-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139913143","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 origin and evolution of Wnt signalling Wnt 信号的起源和演变。

IF 42.7 1区生物学

Nature Reviews Genetics Pub Date : 2024-02-19 DOI: 10.1038/s41576-024-00699-w

Michaela Holzem, Michael Boutros, Thomas W. Holstein

{"title":"The origin and evolution of Wnt signalling","authors":"Michaela Holzem, Michael Boutros, Thomas W. Holstein","doi":"10.1038/s41576-024-00699-w","DOIUrl":"10.1038/s41576-024-00699-w","url":null,"abstract":"The Wnt signal transduction pathway has essential roles in the formation of the primary body axis during development, cellular differentiation and tissue homeostasis. This animal-specific pathway has been studied extensively in contexts ranging from developmental biology to medicine for more than 40 years. Despite its physiological importance, an understanding of the evolutionary origin and primary function of Wnt signalling has begun to emerge only recently. Recent studies on very basal metazoan species have shown high levels of conservation of components of both canonical and non-canonical Wnt signalling pathways. Furthermore, some pathway proteins have been described also in non-animal species, suggesting that recruitment and functional adaptation of these factors has occurred in metazoans. In this Review, we summarize the current state of research regarding the evolutionary origin of Wnt signalling, its ancestral function and the characteristics of the primal Wnt ligand, with emphasis on the importance of genomic studies in various pre-metazoan and basal metazoan species. This Review discusses the evolutionary origin of Wnt signalling, its ancestral function and the characteristics of the primal Wnt ligand. It emphasizes the importance of genomic studies in pre-metazoan and basal metazoan species to understanding the evolutionary origin of signalling pathways.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"25 7","pages":"500-512"},"PeriodicalIF":42.7,"publicationDate":"2024-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139906199","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