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Mini-colons unlock tumour development outside the body 小结肠揭开肿瘤在体外发展的秘密
IF 39.1 1区 生物学
Nature Reviews Genetics Pub Date : 2024-06-05 DOI: 10.1038/s41576-024-00752-8
L. Francisco Lorenzo-Martín, Matthias P. Lutolf
{"title":"Mini-colons unlock tumour development outside the body","authors":"L. Francisco Lorenzo-Martín, Matthias P. Lutolf","doi":"10.1038/s41576-024-00752-8","DOIUrl":"10.1038/s41576-024-00752-8","url":null,"abstract":"In this Tools of the Trade article, Francisco Lorenzo-Martín and Matthias Lutolf present mini-colons as a new ex vivo cancer model that incorporates microfabrication, tissue engineering and optogenetics.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"25 9","pages":"598-598"},"PeriodicalIF":39.1,"publicationDate":"2024-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141251570","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
SCENT defines non-coding disease mechanisms using single-cell multi-omics SCENT 利用单细胞多组学确定非编码疾病机制。
IF 39.1 1区 生物学
Nature Reviews Genetics Pub Date : 2024-05-30 DOI: 10.1038/s41576-024-00747-5
Saori Sakaue
{"title":"SCENT defines non-coding disease mechanisms using single-cell multi-omics","authors":"Saori Sakaue","doi":"10.1038/s41576-024-00747-5","DOIUrl":"10.1038/s41576-024-00747-5","url":null,"abstract":"In this Tools of the Trade article, Saori Sakaue describes SCENT, a tool to generate cell-type-specific enhancer–gene maps using single-cell multi-omics data, which can help identify disease-causal, non-coding variants and genes from GWAS-defined loci.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"25 9","pages":"597-597"},"PeriodicalIF":39.1,"publicationDate":"2024-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141180126","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
Gene–environment interactions in human health 人类健康中基因与环境的相互作用。
IF 39.1 1区 生物学
Nature Reviews Genetics Pub Date : 2024-05-28 DOI: 10.1038/s41576-024-00731-z
Esther Herrera-Luis, Kelly Benke, Heather Volk, Christine Ladd-Acosta, Genevieve L. Wojcik
{"title":"Gene–environment interactions in human health","authors":"Esther Herrera-Luis, Kelly Benke, Heather Volk, Christine Ladd-Acosta, Genevieve L. Wojcik","doi":"10.1038/s41576-024-00731-z","DOIUrl":"10.1038/s41576-024-00731-z","url":null,"abstract":"Gene–environment interactions (G × E), the interplay of genetic variation with environmental factors, have a pivotal impact on human complex traits and diseases. Statistically, G × E can be assessed by determining the deviation from expectation of predictive models based solely on the phenotypic effects of genetics or environmental exposures. Despite the unprecedented, widespread and diverse use of G × E analytical frameworks, heterogeneity in their application and reporting hinders their applicability in public health. In this Review, we discuss study design considerations as well as G × E analytical frameworks to assess polygenic liability dependent on the environment, to identify specific genetic variants exhibiting G × E, and to characterize environmental context for these dynamics. We conclude with recommendations to address the most common challenges and pitfalls in the conceptualization, methodology and reporting of G × E studies, as well as future directions. Despite their impact on human complex traits and diseases, gene–environment interactions (G × E) remain challenging to assess statistically. The authors review considerations for the conceptualization, methodology, interpretation and reporting of G × E studies, and provide recommendations on how to avoid common pitfalls.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"25 11","pages":"768-784"},"PeriodicalIF":39.1,"publicationDate":"2024-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141162442","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
Nuclear receptors — studying genes to understand hormones 核受体--研究基因以了解激素
IF 39.1 1区 生物学
Nature Reviews Genetics Pub Date : 2024-05-22 DOI: 10.1038/s41576-024-00745-7
Jessica Tollkuhn
{"title":"Nuclear receptors — studying genes to understand hormones","authors":"Jessica Tollkuhn","doi":"10.1038/s41576-024-00745-7","DOIUrl":"10.1038/s41576-024-00745-7","url":null,"abstract":"In this Journal Club, Jessica Tollkuhn discusses how a paper describing genome-wide application of chromatin immunoprecipitation (ChIP)-on-chip inspired her own research into oestrogen-based gene regulation in the brain.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"25 9","pages":"602-602"},"PeriodicalIF":39.1,"publicationDate":"2024-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141079268","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
BANKSY: scalable cell typing and domain segmentation for spatial omics BANKSY：用于空间全息图学的可扩展细胞分型和域分割。
IF 39.1 1区 生物学
Nature Reviews Genetics Pub Date : 2024-05-15 DOI: 10.1038/s41576-024-00743-9
Vipul Singhal, Nigel Chou
{"title":"BANKSY: scalable cell typing and domain segmentation for spatial omics","authors":"Vipul Singhal, Nigel Chou","doi":"10.1038/s41576-024-00743-9","DOIUrl":"10.1038/s41576-024-00743-9","url":null,"abstract":"In this Tools of the Trade article, Vipul Singhal and Nigel Chou describe BANKSY, a machine learning tool that harnesses gene expression gradients from the neighbourhood of a cell for cell typing and domain segmentation.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"25 8","pages":"527-528"},"PeriodicalIF":39.1,"publicationDate":"2024-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140944429","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
Miller spreads and the power of observation 米勒的传播和观察力
IF 39.1 1区 生物学
Nature Reviews Genetics Pub Date : 2024-05-13 DOI: 10.1038/s41576-024-00739-5
Mustafa Mir
{"title":"Miller spreads and the power of observation","authors":"Mustafa Mir","doi":"10.1038/s41576-024-00739-5","DOIUrl":"10.1038/s41576-024-00739-5","url":null,"abstract":"Mustafa Mir reflects on a 1976 paper by McKnight and Miller, in which they developed a technique to directly visualize gene regulatory dynamics.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"25 9","pages":"601-601"},"PeriodicalIF":39.1,"publicationDate":"2024-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140915128","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
Dysregulation of epigenetically induced cancers 表观遗传诱发癌症的调控失调
IF 42.7 1区 生物学
Nature Reviews Genetics Pub Date : 2024-05-13 DOI: 10.1038/s41576-024-00742-w
Henry Ertl
{"title":"Dysregulation of epigenetically induced cancers","authors":"Henry Ertl","doi":"10.1038/s41576-024-00742-w","DOIUrl":"10.1038/s41576-024-00742-w","url":null,"abstract":"A study in Nature finds that transient perturbation of the Polycomb complex and target epigenome can irreversibly induce cancer cell fates.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"25 7","pages":"456-456"},"PeriodicalIF":42.7,"publicationDate":"2024-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140915129","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 glycosylation in mammalian development and disease 哺乳动物发育和疾病中的糖基化遗传学。
IF 39.1 1区 生物学
Nature Reviews Genetics Pub Date : 2024-05-09 DOI: 10.1038/s41576-024-00725-x
Pamela Stanley
{"title":"Genetics of glycosylation in mammalian development and disease","authors":"Pamela Stanley","doi":"10.1038/s41576-024-00725-x","DOIUrl":"10.1038/s41576-024-00725-x","url":null,"abstract":"Glycosylation of proteins and lipids in mammals is essential for embryogenesis and the development of all tissues. Analyses of glycosylation mutants in cultured mammalian cells and model organisms have been key to defining glycosylation pathways and the biological functions of glycans. More recently, applications of genome sequencing have revealed the breadth of rare congenital disorders of glycosylation in humans and the influence of genetics on the synthesis of glycans relevant to infectious diseases, cancer progression and diseases of the immune system. This improved understanding of glycan synthesis and functions is paving the way for advances in the diagnosis and treatment of glycosylation-related diseases, including the development of glycoprotein therapeutics through glycosylation engineering. In this Review, Stanley summarizes the role of genetics in mammalian glycosylation, highlighting how advances in genetic and genomic technologies are helping to characterize the genes involved and contributing to the development of therapies for diseases related to glycosylation.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"25 10","pages":"715-729"},"PeriodicalIF":39.1,"publicationDate":"2024-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140897469","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
Tandem repeat variation of human centromeres 人类中心粒的串联重复变异
IF 42.7 1区 生物学
Nature Reviews Genetics Pub Date : 2024-05-08 DOI: 10.1038/s41576-024-00741-x
Kirsty Minton
{"title":"Tandem repeat variation of human centromeres","authors":"Kirsty Minton","doi":"10.1038/s41576-024-00741-x","DOIUrl":"10.1038/s41576-024-00741-x","url":null,"abstract":"Logsdon et al. report the second complete sequence of all centromeres from a single human genome, enabling comparative analyses of the variation in tandemly repeating α-satellite DNA.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"25 7","pages":"455-455"},"PeriodicalIF":42.7,"publicationDate":"2024-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140881289","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 emerging role of tandem repeats in complex traits 串联重复序列在复杂性状中的新作用
IF 42.7 1区 生物学
Nature Reviews Genetics Pub Date : 2024-05-07 DOI: 10.1038/s41576-024-00736-8
Michael Lamkin, Melissa Gymrek
{"title":"The emerging role of tandem repeats in complex traits","authors":"Michael Lamkin, Melissa Gymrek","doi":"10.1038/s41576-024-00736-8","DOIUrl":"10.1038/s41576-024-00736-8","url":null,"abstract":"Tandem repeats are a large source of genetic variation but are challenging to analyse and have been missing from most genome-wide studies. Results now suggest that systematic incorporation of tandem repeats into complex trait analyses is likely to yield a rich source of causal variants and new biological insights. In this Comment, Lamkin and Gymrek discuss recent results that suggest that the systematic incorporation of tandem repeats into complex trait analyses will yield a rich source of causal variants and new biological insights.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"25 7","pages":"452-453"},"PeriodicalIF":42.7,"publicationDate":"2024-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140845112","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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