Nature Reviews Genetics最新文献_第10页

Chromatin organization in red triangles 红色三角形中的染色质组织

IF 42.7 1区生物学

Nature Reviews Genetics Pub Date : 2023-02-02 DOI: 10.1038/s41576-023-00582-0

Elisa Oricchio

引用次数: 0

How Hi-C ignited the era of 3D genome biology Hi-C 如何开启三维基因组生物学时代

IF 42.7 1区生物学

Nature Reviews Genetics Pub Date : 2023-02-02 DOI: 10.1038/s41576-023-00583-z

Magda Bienko

引用次数: 0

Molecular mechanisms of environmental exposures and human disease 环境暴露与人类疾病的分子机制。

IF 42.7 1区生物学

Nature Reviews Genetics Pub Date : 2023-01-30 DOI: 10.1038/s41576-022-00569-3

Haotian Wu, Christina M. Eckhardt, Andrea A. Baccarelli

{"title":"Molecular mechanisms of environmental exposures and human disease","authors":"Haotian Wu, Christina M. Eckhardt, Andrea A. Baccarelli","doi":"10.1038/s41576-022-00569-3","DOIUrl":"10.1038/s41576-022-00569-3","url":null,"abstract":"A substantial proportion of disease risk for common complex disorders is attributable to environmental exposures and pollutants. An appreciation of how environmental pollutants act on our cells to produce deleterious health effects has led to advances in our understanding of the molecular mechanisms underlying the pathogenesis of chronic diseases, including cancer and cardiovascular, neurodegenerative and respiratory diseases. Here, we discuss emerging research on the interplay of environmental pollutants with the human genome and epigenome. We review evidence showing the environmental impact on gene expression through epigenetic modifications, including DNA methylation, histone modification and non-coding RNAs. We also highlight recent studies that evaluate recently discovered molecular processes through which the environment can exert its effects, including extracellular vesicles, the epitranscriptome and the mitochondrial genome. Finally, we discuss current challenges when studying the exposome — the cumulative measure of environmental influences over the lifespan — and its integration into future environmental health research. Environmental pollutants have been shown to disrupt molecular mechanisms underlying common complex diseases. The authors review the interplay of environmental stressors with the human genome and epigenome as well as other molecular processes, such as production of extracellular vesicles, epitranscriptomic changes and mitochondrial changes, through which the environment can exert its effects.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"24 5","pages":"332-344"},"PeriodicalIF":42.7,"publicationDate":"2023-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9336630","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: 13

Exon junction complex modulates m6A distribution 外显子连接复合体调节 m6A 的分布

IF 42.7 1区生物学

Nature Reviews Genetics Pub Date : 2023-01-30 DOI: 10.1038/s41576-023-00581-1

Dorothy Clyde

引用次数: 0

Pharmacogenomics: current status and future perspectives 药物基因组学：现状与未来展望

IF 42.7 1区生物学

Nature Reviews Genetics Pub Date : 2023-01-27 DOI: 10.1038/s41576-022-00572-8

Munir Pirmohamed

{"title":"Pharmacogenomics: current status and future perspectives","authors":"Munir Pirmohamed","doi":"10.1038/s41576-022-00572-8","DOIUrl":"10.1038/s41576-022-00572-8","url":null,"abstract":"Inter-individual variability in drug response, be it efficacy or safety, is common and likely to become an increasing problem globally given the growing elderly population requiring treatment. Reasons for this inter-individual variability include genomic factors, an area of study called pharmacogenomics. With genotyping technologies now widely available and decreasing in cost, implementing pharmacogenomics into clinical practice — widely regarded as one of the initial steps in mainstreaming genomic medicine — is currently a focus in many countries worldwide. However, major challenges of implementation lie at the point of delivery into health-care systems, including the modification of current clinical pathways coupled with a massive knowledge gap in pharmacogenomics in the health-care workforce. Pharmacogenomics can also be used in a broader sense for drug discovery and development, with increasing evidence suggesting that genomically defined targets have an increased success rate during clinical development. In this Review, Munir Pirmohamed provides an overview of the current state of the pharmacogenomics field, using examples of clinically relevant drug–gene associations, before outlining the steps needed for implementation of pharmacogenomics into clinical practice. The role of pharmacogenomics in drug discovery and development is also considered.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"24 6","pages":"350-362"},"PeriodicalIF":42.7,"publicationDate":"2023-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9500159","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: 21

Stem cell-derived organoid models: defying the Hayflick limit 干细胞衍生的类器官模型：挑战海弗里克极限

IF 42.7 1区生物学

Nature Reviews Genetics Pub Date : 2023-01-25 DOI: 10.1038/s41576-023-00577-x

Meritxell Huch

引用次数: 1

Optical filament recording of cellular events 用光学灯丝记录细胞事件

IF 42.7 1区生物学

Nature Reviews Genetics Pub Date : 2023-01-25 DOI: 10.1038/s41576-023-00579-9

Darren J. Burgess

引用次数: 0

Navigating the pitfalls of mapping DNA and RNA modifications 探索绘制 DNA 和 RNA 修饰图谱的陷阱。

IF 42.7 1区生物学

Nature Reviews Genetics Pub Date : 2023-01-18 DOI: 10.1038/s41576-022-00559-5

Yimeng Kong, Edward A. Mead, Gang Fang

{"title":"Navigating the pitfalls of mapping DNA and RNA modifications","authors":"Yimeng Kong, Edward A. Mead, Gang Fang","doi":"10.1038/s41576-022-00559-5","DOIUrl":"10.1038/s41576-022-00559-5","url":null,"abstract":"Chemical modifications to nucleic acids occur across the kingdoms of life and carry important regulatory information. Reliable high-resolution mapping of these modifications is the foundation of functional and mechanistic studies, and recent methodological advances based on next-generation sequencing and long-read sequencing platforms are critical to achieving this aim. However, mapping technologies may have limitations that sometimes lead to inconsistent results. Some of these limitations are technical in nature and specific to certain types of technology. Here, however, we focus on common (yet not always widely recognized) pitfalls that are shared among frequently used mapping technologies and discuss strategies to help technology developers and users mitigate their effects. Although the emphasis is primarily on DNA modifications, RNA modifications are also discussed. The ability to map DNA and RNA modifications has improved our understanding of these marks, but in some cases inconsistent results have been problematic. Here, Kong et al. discuss how to recognize and resolve issues associated with commonly used sequencing-based approaches to minimize mapping errors.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"24 6","pages":"363-381"},"PeriodicalIF":42.7,"publicationDate":"2023-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9506457","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: 1

Mapping the minutiae of the human methylome 绘制人类甲基组的细枝末节

IF 42.7 1区生物学

Nature Reviews Genetics Pub Date : 2023-01-16 DOI: 10.1038/s41576-023-00576-y

Kirsty Minton

引用次数: 0

Prioritizing the detection of rare pathogenic variants in population screening 在人群筛查中优先检测罕见致病变体

IF 42.7 1区生物学

Nature Reviews Genetics Pub Date : 2023-01-13 DOI: 10.1038/s41576-022-00571-9

Paul Lacaze, Ranjit Manchanda, Robert C. Green

引用次数: 3