发布求助
文献互助 智能选刊 最新文献

Nature Reviews Genetics最新文献

筛选
英文 中文
One but not the same — the many genomes of the brain 一个但又不一样——大脑的许多基因组
IF 42.7 1区 生物学
Nature Reviews Genetics Pub Date : 2025-05-09 DOI: 10.1038/s41576-025-00852-z
Tracy A. Bedrosian
{"title":"One but not the same — the many genomes of the brain","authors":"Tracy A. Bedrosian","doi":"10.1038/s41576-025-00852-z","DOIUrl":"https://doi.org/10.1038/s41576-025-00852-z","url":null,"abstract":"In this Journal Club, Tracy Bedrosian describes a 2001 paper by Rehen et al. that provided early evidence of pervasive somatic variation throughout the human brain.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"38 1","pages":""},"PeriodicalIF":42.7,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143927344","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
An uneasy truce between population health and the gene pools within our bodies 人口健康和我们体内的基因库之间不稳定的休战
IF 42.7 1区 生物学
Nature Reviews Genetics Pub Date : 2025-05-07 DOI: 10.1038/s41576-025-00851-0
Kelley Harris
{"title":"An uneasy truce between population health and the gene pools within our bodies","authors":"Kelley Harris","doi":"10.1038/s41576-025-00851-0","DOIUrl":"https://doi.org/10.1038/s41576-025-00851-0","url":null,"abstract":"In this Journal Club, Kelley Harris recalls a 2003 paper by Goriely et al. that identified interesting evolutionary forces acting on mutations that are beneficial for cells within our bodies but detrimental to the health of our children.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"11 1","pages":""},"PeriodicalIF":42.7,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143915671","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
Understanding the logic and grammar of cis-regulatory elements 理解顺式调控要素的逻辑和语法
IF 42.7 1区 生物学
Nature Reviews Genetics Pub Date : 2025-05-07 DOI: 10.1038/s41576-025-00847-w
Juan I. Fuxman Bass
{"title":"Understanding the logic and grammar of cis-regulatory elements","authors":"Juan I. Fuxman Bass","doi":"10.1038/s41576-025-00847-w","DOIUrl":"https://doi.org/10.1038/s41576-025-00847-w","url":null,"abstract":"In this Journal Club, Juan Fuxman Bass reflects on two papers, by Melnikov et al. and Patwardhan et al., that transformed the field of regulatory genomics by devising methods to study thousands of cis-regulatory elements simultaneously.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"53 1","pages":""},"PeriodicalIF":42.7,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143915670","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
Revealing secrets of human genetic variation with population databases 利用人口数据库揭示人类基因变异的秘密
IF 42.7 1区 生物学
Nature Reviews Genetics Pub Date : 2025-05-02 DOI: 10.1038/s41576-025-00848-9
Nicole J. Lake
{"title":"Revealing secrets of human genetic variation with population databases","authors":"Nicole J. Lake","doi":"10.1038/s41576-025-00848-9","DOIUrl":"https://doi.org/10.1038/s41576-025-00848-9","url":null,"abstract":"In this Journal Club, Nicole Lake recalls a 2016 paper by Lek et al., as part of the Exome Aggregation Consortium, that presented a foundational population database for researchers and clinicians.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"15 1","pages":""},"PeriodicalIF":42.7,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143901491","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
TACIT and CoTACIT for histone modification profiling in single cells and lineage tracing 单细胞组蛋白修饰谱和谱系追踪的TACIT和CoTACIT
IF 42.7 1区 生物学
Nature Reviews Genetics Pub Date : 2025-04-30 DOI: 10.1038/s41576-025-00844-z
Min Liu, Aibin He
{"title":"TACIT and CoTACIT for histone modification profiling in single cells and lineage tracing","authors":"Min Liu, Aibin He","doi":"10.1038/s41576-025-00844-z","DOIUrl":"https://doi.org/10.1038/s41576-025-00844-z","url":null,"abstract":"In this Tools of the Trade article, Min Liu and Aibin He describe TACIT, a single-cell method that maps histone modifications at near genome-wide coverage, and its extension CoTACIT, which simultaneously maps up to six histone modifications in the same cell.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"222 1","pages":""},"PeriodicalIF":42.7,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143889468","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
Advances in single-cell DNA sequencing enable insights into human somatic mosaicism 单细胞DNA测序的进步使我们能够深入了解人类体细胞嵌合现象
IF 42.7 1区 生物学
Nature Reviews Genetics Pub Date : 2025-04-25 DOI: 10.1038/s41576-025-00832-3
Diane D. Shao, Andrea J. Kriz, Daniel A. Snellings, Zinan Zhou, Yifan Zhao, Liz Enyenihi, Christopher Walsh
{"title":"Advances in single-cell DNA sequencing enable insights into human somatic mosaicism","authors":"Diane D. Shao, Andrea J. Kriz, Daniel A. Snellings, Zinan Zhou, Yifan Zhao, Liz Enyenihi, Christopher Walsh","doi":"10.1038/s41576-025-00832-3","DOIUrl":"https://doi.org/10.1038/s41576-025-00832-3","url":null,"abstract":"<p>DNA sequencing from bulk or clonal human tissues has shown that genetic mosaicism is common and contributes to both cancer and non-cancerous disorders. However, single-cell resolution is required to understand the full genetic heterogeneity that exists within a tissue and the mechanisms that lead to somatic mosaicism. Single-cell DNA-sequencing technologies have traditionally trailed behind those of single-cell transcriptomics and epigenomics, largely because most applications require whole-genome amplification before costly whole-genome sequencing. Now, recent technological and computational advances are enabling the use of single-cell DNA sequencing to tackle previously intractable problems, such as delineating the genetic landscape of tissues with complex clonal patterns, of samples where cellular material is scarce and of non-cycling, postmitotic cells. Single-cell genomes are also revealing the mutational patterns that arise from biological processes or disease states, and have made it possible to track cell lineage in human tissues. These advances in our understanding of tissue biology and our ability to identify disease mechanisms will ultimately transform how disease is diagnosed and monitored.</p>","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"130 1","pages":""},"PeriodicalIF":42.7,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143876129","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
Emerging roles of transcriptional condensates as temporal signal integrators 转录凝聚物作为时间信号积分器的新角色
IF 42.7 1区 生物学
Nature Reviews Genetics Pub Date : 2025-04-16 DOI: 10.1038/s41576-025-00837-y
Kirstin Meyer, Bo Huang, Orion D. Weiner
{"title":"Emerging roles of transcriptional condensates as temporal signal integrators","authors":"Kirstin Meyer, Bo Huang, Orion D. Weiner","doi":"10.1038/s41576-025-00837-y","DOIUrl":"https://doi.org/10.1038/s41576-025-00837-y","url":null,"abstract":"<p>Transcription factors relay information from the external environment to gene regulatory networks that control cell physiology. To confer signalling specificity, robustness and coordination, these signalling networks use temporal communication codes, such as the amplitude, duration or frequency of signals. Although much is known about how temporal information is encoded, a mechanistic understanding of how gene regulatory networks decode signalling dynamics is lacking. Recent advances in our understanding of phase separation of transcriptional condensates provide new biophysical frameworks for both temporal encoding and decoding mechanisms. In this Perspective, we summarize the mechanisms by which transcriptional condensates could enable temporal decoding through signal adaptation, memory and persistence. We further outline methods to probe and manipulate dynamic communication codes of transcription factors and condensates to rationally control gene activation.</p>","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"90 1","pages":""},"PeriodicalIF":42.7,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143836751","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
Leveraging genetics to understand ADAR1-mediated RNA editing in health and disease 利用遗传学了解 ADAR1 介导的 RNA 编辑在健康和疾病中的作用
IF 42.7 1区 生物学
Nature Reviews Genetics Pub Date : 2025-04-14 DOI: 10.1038/s41576-025-00830-5
Jin Billy Li, Carl R. Walkley
{"title":"Leveraging genetics to understand ADAR1-mediated RNA editing in health and disease","authors":"Jin Billy Li, Carl R. Walkley","doi":"10.1038/s41576-025-00830-5","DOIUrl":"https://doi.org/10.1038/s41576-025-00830-5","url":null,"abstract":"<p>Endogenous, long double-stranded RNA (dsRNA) can resemble viral dsRNA and be recognized by cytosolic dsRNA sensors, triggering autoimmunity. Genetic studies of rare, inherited human diseases and experiments using mouse models have established the importance of adenosine-to-inosine RNA editing by the enzyme adenosine deaminase acting on RNA 1 (ADAR1) as a critical safeguard against autoinflammatory responses to cellular dsRNA. More recently, human genetic studies have revealed that dsRNA editing and sensing mechanisms are involved in common inflammatory diseases, emphasizing the broader role of dsRNA in modulating immune responses and disease pathogenesis. These findings have highlighted the therapeutic potential of targeting dsRNA editing and sensing, as exemplified by the emergence of ADAR1 inhibition in cancer therapy.</p>","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"6 1","pages":""},"PeriodicalIF":42.7,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143827139","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
SHOX value: the pseudoautosomal gene underlying short stature in Turner syndrome SHOX值：特纳综合征矮小的假常染色体基因
IF 42.7 1区 生物学
Nature Reviews Genetics Pub Date : 2025-04-14 DOI: 10.1038/s41576-025-00842-1
Adrianna K. San Roman
{"title":"SHOX value: the pseudoautosomal gene underlying short stature in Turner syndrome","authors":"Adrianna K. San Roman","doi":"10.1038/s41576-025-00842-1","DOIUrl":"https://doi.org/10.1038/s41576-025-00842-1","url":null,"abstract":"In this Journal Club, Adrianna San Roman describes a 1997 study by Rao et al. that exemplifies how thorough measuring of genotypes and phenotypes in a variable human cohort is instrumental to identifying the genetic basis of clinical phenotypes.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"1 1","pages":""},"PeriodicalIF":42.7,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143827134","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 regulation and function of post-transcriptional RNA splicing 转录后RNA剪接的调控与功能
IF 42.7 1区 生物学
Nature Reviews Genetics Pub Date : 2025-04-11 DOI: 10.1038/s41576-025-00836-z
Karine Choquet, Ines L. Patop, L. Stirling Churchman
{"title":"The regulation and function of post-transcriptional RNA splicing","authors":"Karine Choquet, Ines L. Patop, L. Stirling Churchman","doi":"10.1038/s41576-025-00836-z","DOIUrl":"https://doi.org/10.1038/s41576-025-00836-z","url":null,"abstract":"<p>Eukaryotic RNA transcripts undergo extensive processing before becoming functional messenger RNAs, with splicing being a critical and highly regulated step that occurs both co-transcriptionally and post-transcriptionally. Recent analyses have revealed, with unprecedented spatial and temporal resolution, that up to 40% of mammalian introns are retained after transcription termination and are subsequently removed largely while transcripts remain chromatin-associated. Post-transcriptional splicing has emerged as a key layer of gene expression regulation during development, stress response and disease progression. The control of post-transcriptional splicing regulates protein production through delayed splicing and nuclear export, or nuclear retention and degradation of specific transcript isoforms. Here, we review current methodologies for detecting post-transcriptional splicing, discuss the mechanisms controlling the timing of splicing and examine how this temporal regulation affects gene expression programmes in healthy cells and in disease states.</p>","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"37 1","pages":""},"PeriodicalIF":42.7,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143819313","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
下一页 尾页
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整，为了账户安全，请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们：info@booksci.cn Book学术提供免费学术资源搜索服务，方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号：481959085
Book学术官方微信