Nature Reviews Genetics最新文献_第10页

Diversity and consequences of structural variation in the human genome 人类基因组结构变异的多样性和后果

IF 52 1区生物学

Nature Reviews Genetics Pub Date : 2025-01-21 DOI: 10.1038/s41576-024-00808-9

Ryan L. Collins, Michael E. Talkowski

{"title":"Diversity and consequences of structural variation in the human genome","authors":"Ryan L. Collins, Michael E. Talkowski","doi":"10.1038/s41576-024-00808-9","DOIUrl":"10.1038/s41576-024-00808-9","url":null,"abstract":"The biomedical community is increasingly invested in capturing all genetic variants across human genomes, interpreting their functional consequences and translating these findings to the clinic. A crucial component of this endeavour is the discovery and characterization of structural variants (SVs), which are ubiquitous in the human population, heterogeneous in their mutational processes, key substrates for evolution and adaptation, and profound drivers of human disease. The recent emergence of new technologies and the remarkable scale of sequence-based population studies have begun to crystalize our understanding of SVs as a mutational class and their widespread influence across phenotypes. In this Review, we summarize recent discoveries and new insights into SVs in the human genome in terms of their mutational patterns, population genetics, functional consequences, and impact on human traits and disease. We conclude by outlining three frontiers to be explored by the field over the next decade. Collins and Talkowski provide a broad overview of structural variation in the human genome that covers their mutational properties, the dynamics of population genetics and functional consequences in disease as well as promising directions for future research.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"26 7","pages":"443-462"},"PeriodicalIF":52.0,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142990632","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

Profiling the total transcriptome of single nuclei in archived samples with snRandom-seq 用snRandom-seq分析存档样本中单个细胞核的总转录组

IF 39.1 1区生物学

Nature Reviews Genetics Pub Date : 2025-01-17 DOI: 10.1038/s41576-025-00812-7

Ziye Xu, Yongcheng Wang

引用次数: 0

Indirect recognition of pathogen virulence proteins to activate plant immune receptors 间接识别病原体毒力蛋白，激活植物免疫受体

IF 39.1 1区生物学

Nature Reviews Genetics Pub Date : 2025-01-15 DOI: 10.1038/s41576-025-00811-8

Xiu-Fang Xin (, )

引用次数: 0

Epigenetic ageing clocks: statistical methods and emerging computational challenges 表观遗传老化时钟：统计方法和新出现的计算挑战

IF 52 1区生物学

Nature Reviews Genetics Pub Date : 2025-01-13 DOI: 10.1038/s41576-024-00807-w

Andrew E. Teschendorff, Steve Horvath

引用次数: 0

The therapeutic potential of circular RNAs 环状rna的治疗潜力

IF 39.1 1区生物学

Nature Reviews Genetics Pub Date : 2025-01-09 DOI: 10.1038/s41576-024-00806-x

Eoghan O’Leary, Yanyi Jiang, Lasse S. Kristensen, Thomas B. Hansen, Jørgen Kjems

引用次数: 0

Epigenetics and individuality: from concepts to causality across timescales 表观遗传学和个性：从概念到跨越时间尺度的因果关系

IF 52 1区生物学

Nature Reviews Genetics Pub Date : 2025-01-09 DOI: 10.1038/s41576-024-00804-z

Amy K. Webster, Patrick C. Phillips

{"title":"Epigenetics and individuality: from concepts to causality across timescales","authors":"Amy K. Webster, Patrick C. Phillips","doi":"10.1038/s41576-024-00804-z","DOIUrl":"10.1038/s41576-024-00804-z","url":null,"abstract":"Traditionally, differences among individuals have been divided into genetic and environmental causes. However, both types of variation can underlie regulatory changes in gene expression — that is, epigenetic changes — that persist across cell divisions (developmental differentiation) and even across generations (transgenerational inheritance). Increasingly, epigenetic variation among individuals is recognized as an important factor in human diseases and ageing. Moreover, non-genetic inheritance can lead to evolutionary changes within populations that differ from those expected by genetic inheritance alone. Despite its importance, causally linking epigenetic variation to phenotypic differences across individuals has proven difficult, particularly when epigenetic variation operates independently of genetic variation. New genomic approaches are providing unprecedented opportunity to measure and perturb epigenetic variation, helping to elucidate the role of epigenetic variation in mediating the genotype–phenotype map. Here, we review studies that have advanced our understanding of how epigenetic variation contributes to phenotypic differences between individuals within and across generations, and provide a unifying framework that allows historical and mechanistic perspectives to more fully inform one another. Recent genomic approaches are providing unprecedented opportunity to disentangle how genotype and environment affect organismal traits. The authors review the role of epigenetic variation in mediating the genotype–phenotype map across three scales: among individuals within a generation, across one or multiple generations, and long term over evolutionary time.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"26 6","pages":"406-423"},"PeriodicalIF":52.0,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142937628","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 phylogenetic approach to comparative genomics 比较基因组学的系统发育方法

IF 52 1区生物学

Nature Reviews Genetics Pub Date : 2025-01-08 DOI: 10.1038/s41576-024-00803-0

Anna E. Dewar, Laurence. J. Belcher, Stuart A. West

{"title":"A phylogenetic approach to comparative genomics","authors":"Anna E. Dewar, Laurence. J. Belcher, Stuart A. West","doi":"10.1038/s41576-024-00803-0","DOIUrl":"10.1038/s41576-024-00803-0","url":null,"abstract":"Comparative genomics, whereby the genomes of different species are compared, has the potential to address broad and fundamental questions at the intersection of genetics and evolution. However, species, genomes and genes cannot be considered as independent data points within statistical tests. Closely related species tend to be similar because they share genes by common descent, which must be accounted for in analyses. This problem of non-independence may be exacerbated when examining genomes or genes but can be addressed by applying phylogeny-based methods to comparative genomic analyses. Here, we review how controlling for phylogeny can change the conclusions of comparative genomics studies. We address common questions on how to apply these methods and illustrate how they can be used to test causal hypotheses. The combination of rapidly expanding genomic datasets and phylogenetic comparative methods is set to revolutionize the biological insights possible from comparative genomic studies. Controlling for phylogeny is essential in comparative genomics studies, because species, genomes and genes are not independent data points within statistical tests. The authors review the application of phylogeny-based comparative methods to genomic data to control for non-independence and how to test for causal hypotheses.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"26 6","pages":"395-405"},"PeriodicalIF":52.0,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142935880","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 effects of loss of Y chromosome on male health Y染色体缺失对男性健康的影响

IF 52 1区生物学

Nature Reviews Genetics Pub Date : 2025-01-02 DOI: 10.1038/s41576-024-00805-y

Bozena Bruhn-Olszewska, Ellen Markljung, Edyta Rychlicka-Buniowska, Daniil Sarkisyan, Natalia Filipowicz, Jan P. Dumanski

{"title":"The effects of loss of Y chromosome on male health","authors":"Bozena Bruhn-Olszewska, Ellen Markljung, Edyta Rychlicka-Buniowska, Daniil Sarkisyan, Natalia Filipowicz, Jan P. Dumanski","doi":"10.1038/s41576-024-00805-y","DOIUrl":"10.1038/s41576-024-00805-y","url":null,"abstract":"Loss of Y chromosome (LOY) is the most commonly occurring post-zygotic (somatic) mutation in male individuals. The past decade of research suggests that LOY has important effects in shaping the activity of the immune system, and multiple studies have shown the effects of LOY on a range of diseases, including cancer, neurodegeneration, cardiovascular disease and acute infection. Epidemiological findings have been corroborated by functional analyses providing insights into the mechanisms by which LOY modulates the immune system; in particular, a causal role for LOY in cardiac fibrosis, bladder cancer and Alzheimer disease has been indicated. These insights show that LOY is a highly dynamic mutation (such that LOY clones expand and contract with time) and has pleiotropic, cell-type-specific effects. Here, we review the status of the field and highlight the potential of LOY as a biomarker and target of new therapeutics that aim to counteract its negative effects on the immune system. Loss of Y chromosome (LOY), the most commonly occurring post-zygotic (somatic) mutation in male individuals, affects immune activity and is associated with cancer, neurodegeneration, cardiovascular disease and infection. LOY is dynamic over time and has cell-type-specific effects, suggesting its potential as a biomarker and therapeutic target.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"26 5","pages":"320-335"},"PeriodicalIF":52.0,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142911550","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 therapy for deafness: we can do more 耳聋的基因治疗：我们可以做得更多

IF 39.1 1区生物学

Nature Reviews Genetics Pub Date : 2024-12-18 DOI: 10.1038/s41576-024-00809-8

Yuxin Chen (, ), Jiake Zhong (, ), Yilai Shu (, )

引用次数: 0

Genomic landscape of cancer in racially and ethnically diverse populations 不同种族和族裔人群的癌症基因组状况

IF 52 1区生物学

Nature Reviews Genetics Pub Date : 2024-11-28 DOI: 10.1038/s41576-024-00796-w

Claire E. Thomas, Ulrike Peters

{"title":"Genomic landscape of cancer in racially and ethnically diverse populations","authors":"Claire E. Thomas, Ulrike Peters","doi":"10.1038/s41576-024-00796-w","DOIUrl":"10.1038/s41576-024-00796-w","url":null,"abstract":"Cancer incidence and mortality rates can vary widely among different racial and ethnic groups, attributed to a complex interplay of genetic, environmental and social factors. Recently, substantial progress has been made in investigating hereditary genetic risk factors and in characterizing tumour genomes. However, most research has been conducted in individuals of European ancestries and, increasingly, in individuals of Asian ancestries. The study of germline and somatic genetics in cancer across racial and ethnic groups using omics technologies offers opportunities to identify similarities and differences in both heritable traits and the molecular features of cancer genomes. An improved understanding of population-specific cancer genomics, as well as translation of those findings across populations, will help reduce cancer disparities and ensure that personalized medicine and public health approaches are equitable across racial and ethnic groups. Studying germline variants and somatic mutations in cancer using omics technologies helps identify both heritable traits and molecular features of cancer genomes. Population-specific cancer genomics can reduce disparities and ensure equity across racial and ethnic groups for personalized medicine and public health approaches.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"26 5","pages":"336-349"},"PeriodicalIF":52.0,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142735585","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