Nature Reviews Genetics最新文献_第8页

Genome assembly in the telomere-to-telomere era 端粒到端粒时代的基因组组装

IF 39.1 1区生物学

Nature Reviews Genetics Pub Date : 2024-04-22 DOI: 10.1038/s41576-024-00718-w

Heng Li, Richard Durbin

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Nuclear mRNA decay: regulatory networks that control gene expression 核 mRNA 衰减：控制基因表达的调控网络

IF 39.1 1区生物学

Nature Reviews Genetics Pub Date : 2024-04-18 DOI: 10.1038/s41576-024-00712-2

Xavier Rambout, Lynne E. Maquat

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Natural antisense transcripts as versatile regulators of gene expression 作为基因表达多功能调节器的天然反义转录本

IF 39.1 1区生物学

Nature Reviews Genetics Pub Date : 2024-04-17 DOI: 10.1038/s41576-024-00723-z

Andreas Werner, Aditi Kanhere, Claes Wahlestedt, John S. Mattick

{"title":"Natural antisense transcripts as versatile regulators of gene expression","authors":"Andreas Werner, Aditi Kanhere, Claes Wahlestedt, John S. Mattick","doi":"10.1038/s41576-024-00723-z","DOIUrl":"10.1038/s41576-024-00723-z","url":null,"abstract":"Long non-coding RNAs (lncRNAs) are emerging as a major class of gene products that have central roles in cell and developmental biology. Natural antisense transcripts (NATs) are an important subset of lncRNAs that are expressed from the opposite strand of protein-coding and non-coding genes and are a genome-wide phenomenon in both eukaryotes and prokaryotes. In eukaryotes, a myriad of NATs participate in regulatory pathways that affect expression of their cognate sense genes. Recent developments in the study of NATs and lncRNAs and large-scale sequencing and bioinformatics projects suggest that whether NATs regulate expression, splicing, stability or translation of the sense transcript is influenced by the pattern and degrees of overlap between the sense–antisense pair. Moreover, epigenetic gene regulatory mechanisms prevail in somatic cells whereas mechanisms dependent on the formation of double-stranded RNA intermediates are prevalent in germ cells. The modulating effects of NATs on sense transcript expression make NATs rational targets for therapeutic interventions. In this Perspective, Werner and colleagues discuss the many potential mechanisms by which natural antisense transcripts (NATs) can regulate expression of their complementary sense transcripts, the biological implications of their regulatory effects and the potential of NATs for therapeutic applications.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"25 10","pages":"730-744"},"PeriodicalIF":39.1,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140608105","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 human uniqueness in the pre-genomic era 了解前基因组时代人类的独特性

IF 42.7 1区生物学

Nature Reviews Genetics Pub Date : 2024-04-15 DOI: 10.1038/s41576-024-00732-y

Jenny Tung

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SIMPLE-seq to decode DNA methylation dynamics in single cells 用 SIMPLE-seq 技术解码单细胞中 DNA 甲基化的动态变化

IF 42.7 1区生物学

Nature Reviews Genetics Pub Date : 2024-04-12 DOI: 10.1038/s41576-024-00729-7

Dongsheng Bai, Chenxu Zhu

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A developmental exit from totipotency 脱离全能性的发育

IF 42.7 1区生物学

Nature Reviews Genetics Pub Date : 2024-04-12 DOI: 10.1038/s41576-024-00730-0

Henry Ertl

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Human embryonic genetic mosaicism and its effects on development and disease 人类胚胎基因嵌合及其对发育和疾病的影响

IF 39.1 1区生物学

Nature Reviews Genetics Pub Date : 2024-04-11 DOI: 10.1038/s41576-024-00715-z

Sarah M. Waldvogel, Jennifer E. Posey, Margaret A. Goodell

{"title":"Human embryonic genetic mosaicism and its effects on development and disease","authors":"Sarah M. Waldvogel, Jennifer E. Posey, Margaret A. Goodell","doi":"10.1038/s41576-024-00715-z","DOIUrl":"10.1038/s41576-024-00715-z","url":null,"abstract":"Nearly every mammalian cell division is accompanied by a mutational event that becomes fixed in a daughter cell. When carried forward to additional cell progeny, a clone of variant cells can emerge. As a result, mammals are complex mosaics of clones that are genetically distinct from one another. Recent high-throughput sequencing studies have revealed that mosaicism is common, clone sizes often increase with age and specific variants can affect tissue function and disease development. Variants that are acquired during early embryogenesis are shared by multiple cell types and can affect numerous tissues. Within tissues, variant clones compete, which can result in their expansion or elimination. Embryonic mosaicism has clinical implications for genetic disease severity and transmission but is likely an under-recognized phenomenon. To better understand its implications for mosaic individuals, it is essential to leverage research tools that can elucidate the mechanisms by which expanded embryonic variants influence development and disease. Genetic variants acquired early during embryogenesis can affect numerous tissues. The authors review the phenomenon of embryonic mosaicism, with a focus on small variants, and discuss mechanisms of cell competition that allow mosaic clones to expand, as well as the functional consequences of mosaicism for embryo viability and the health of the organism.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"25 10","pages":"698-714"},"PeriodicalIF":39.1,"publicationDate":"2024-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140547502","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

Pleiotropy, epistasis and the genetic architecture of quantitative traits 多效性、外显性和数量性状的遗传结构

IF 39.1 1区生物学

Nature Reviews Genetics Pub Date : 2024-04-02 DOI: 10.1038/s41576-024-00711-3

Trudy F. C. Mackay, Robert R. H. Anholt

{"title":"Pleiotropy, epistasis and the genetic architecture of quantitative traits","authors":"Trudy F. C. Mackay, Robert R. H. Anholt","doi":"10.1038/s41576-024-00711-3","DOIUrl":"10.1038/s41576-024-00711-3","url":null,"abstract":"Pleiotropy (whereby one genetic polymorphism affects multiple traits) and epistasis (whereby non-linear interactions between genetic polymorphisms affect the same trait) are fundamental aspects of the genetic architecture of quantitative traits. Recent advances in the ability to characterize the effects of polymorphic variants on molecular and organismal phenotypes in human and model organism populations have revealed the prevalence of pleiotropy and unexpected shared molecular genetic bases among quantitative traits, including diseases. By contrast, epistasis is common between polymorphic loci associated with quantitative traits in model organisms, such that alleles at one locus have different effects in different genetic backgrounds, but is rarely observed for human quantitative traits and common diseases. Here, we review the concepts and recent inferences about pleiotropy and epistasis, and discuss factors that contribute to similarities and differences between the genetic architecture of quantitative traits in model organisms and humans. In this Review, Mackay and Anholt discuss how epistasis and pleiotropy contribute to the genetic architecture of quantitative traits and outline factors that might explain observed differences in their prevalence between model organisms and humans.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"25 9","pages":"639-657"},"PeriodicalIF":39.1,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140343299","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

Genetic variation across and within individuals 个体间和个体内的遗传变异

IF 39.1 1区生物学

Nature Reviews Genetics Pub Date : 2024-03-28 DOI: 10.1038/s41576-024-00709-x

Zhi Yu, Tim H. H. Coorens, Md Mesbah Uddin, Kristin G. Ardlie, Niall Lennon, Pradeep Natarajan

{"title":"Genetic variation across and within individuals","authors":"Zhi Yu, Tim H. H. Coorens, Md Mesbah Uddin, Kristin G. Ardlie, Niall Lennon, Pradeep Natarajan","doi":"10.1038/s41576-024-00709-x","DOIUrl":"10.1038/s41576-024-00709-x","url":null,"abstract":"Germline variation and somatic mutation are intricately connected and together shape human traits and disease risks. Germline variants are present from conception, but they vary between individuals and accumulate over generations. By contrast, somatic mutations accumulate throughout life in a mosaic manner within an individual due to intrinsic and extrinsic sources of mutations and selection pressures acting on cells. Recent advancements, such as improved detection methods and increased resources for association studies, have drastically expanded our ability to investigate germline and somatic genetic variation and compare underlying mutational processes. A better understanding of the similarities and differences in the types, rates and patterns of germline and somatic variants, as well as their interplay, will help elucidate the mechanisms underlying their distinct yet interlinked roles in human health and biology. In this Review, the authors compare the characteristics and detection methods of germline and somatic variants. Furthermore, they outline how the interplay between the two types of genetic variation can affect human health.","PeriodicalId":19067,"journal":{"name":"Nature Reviews Genetics","volume":"25 8","pages":"548-562"},"PeriodicalIF":39.1,"publicationDate":"2024-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140310800","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

Building a catalogue of short tandem repeats in diverse populations 建立不同人群的短串联重复序列目录。

IF 42.7 1区生物学

Nature Reviews Genetics Pub Date : 2024-03-27 DOI: 10.1038/s41576-024-00726-w

Ning Xie

引用次数: 0