Nature Reviews Genetics最新文献_第7页

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 52 1区生物学

Nature Reviews Genetics Pub Date : 2025-05-02 DOI: 10.1038/s41576-025-00848-9

Nicole J. Lake

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 52 1区生物学

Nature Reviews Genetics Pub Date : 2025-04-30 DOI: 10.1038/s41576-025-00844-z

Min Liu, Aibin He

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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 52 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":"10.1038/s41576-025-00837-y","url":null,"abstract":"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. Transcriptional condensates are membraneless organelles that concentrate molecules involved in gene regulation. In this Perspective, the authors outline how transcriptional condensates could serve as temporal signal decoders that transmit information through gene regulatory networks governing cellular responses.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"26 8","pages":"559-570"},"PeriodicalIF":52.0,"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 52 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

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 52 1区生物学

Nature Reviews Genetics Pub Date : 2025-04-14 DOI: 10.1038/s41576-025-00842-1

Adrianna K. San Roman

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 52 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":"10.1038/s41576-025-00836-z","url":null,"abstract":"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. Post-transcriptional splicing has emerged as a key layer of gene expression regulation but is challenging to differentiate from co-transcriptional splicing. The authors review methodologies to detect post-transcriptional splicing, the mechanisms controlling splicing timing and how the temporal regulation of splicing affects gene expression.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"26 6","pages":"378-394"},"PeriodicalIF":52.0,"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

A tour de force of ancient DNA analysis 古代DNA分析的杰作

IF 52 1区生物学

Nature Reviews Genetics Pub Date : 2025-04-11 DOI: 10.1038/s41576-025-00838-x

Ian Barnes

引用次数: 0

The genetic basis of human height 人类身高的遗传基础

IF 52 1区生物学

Nature Reviews Genetics Pub Date : 2025-04-07 DOI: 10.1038/s41576-025-00834-1

Louise S. Bicknell, Joel N. Hirschhorn, Ravi Savarirayan

{"title":"The genetic basis of human height","authors":"Louise S. Bicknell, Joel N. Hirschhorn, Ravi Savarirayan","doi":"10.1038/s41576-025-00834-1","DOIUrl":"10.1038/s41576-025-00834-1","url":null,"abstract":"Human height is a model polygenic trait — additive effects of many individual variants create continuous, genetically determined variation in this phenotype. Height can also be severely affected by single-gene variants in monogenic disorders, often causing severe alterations in stature relative to population averages. Deciphering the genetic basis of height provides understanding into the biology of growth and is also of relevance to disease, as increased or decreased height relative to population averages has been epidemiologically and genetically associated with an altered risk of cancer or cardiometabolic diseases. With recent large-scale genome-wide association studies of human height reaching saturation, its genetic architecture has become clearer. Genes implicated by both monogenic and polygenic studies converge on common developmental or cellular pathways that affect stature, including at the growth plate, a key site of skeletal growth. In this Review, we summarize the genetic contributors to height, from ultra-rare monogenic disorders that severely affect growth to common alleles that act across multiple pathways. Genetic factors that influence human height encompass rare monogenic variants as well as common and rare polygenic variants. In this Review, Bicknell et al. summarize our current understanding of the genetic underpinnings of human stature and link these genes to common developmental and cellular pathways that affect skeletal growth.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"26 9","pages":"604-619"},"PeriodicalIF":52.0,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143789952","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

Epigenome dynamics in early mammalian embryogenesis 早期哺乳动物胚胎发生的表观基因组动力学

IF 52 1区生物学

Nature Reviews Genetics Pub Date : 2025-04-03 DOI: 10.1038/s41576-025-00831-4

Adam Burton, Maria-Elena Torres-Padilla

引用次数: 0