发布求助
文献互助 智能选刊 最新文献

Annual review of genetics最新文献

筛选
英文 中文
The Clockwork Embryo: Mechanisms Regulating Developmental Rate. 发条胚胎:调节发育速率的机制。
IF 11.1 1区 生物学
Annual review of genetics Pub Date : 2023-11-27 DOI: 10.1146/annurev-genet-022123-104503
Margarete Diaz-Cuadros, Olivier Pourquié
{"title":"The Clockwork Embryo: Mechanisms Regulating Developmental Rate.","authors":"Margarete Diaz-Cuadros, Olivier Pourquié","doi":"10.1146/annurev-genet-022123-104503","DOIUrl":"10.1146/annurev-genet-022123-104503","url":null,"abstract":"<p><p>Organismal development requires the reproducible unfolding of an ordered sequence of discrete steps (cell fate determination, migration, tissue folding, etc.) in both time and space. Here, we review the mechanisms that grant temporal specificity to developmental steps, including molecular clocks and timers. Individual timing mechanisms must be coordinated with each other to maintain the overall developmental sequence. However, phenotypic novelties can also arise through the modification of temporal patterns over the course of evolution. Two main types of variation in temporal patterning characterize interspecies differences in developmental time: allochrony, where the overall developmental sequence is either accelerated or slowed down while maintaining the relative duration of individual steps, and heterochrony, where the duration of specific developmental steps is altered relative to the rest. New advances in in vitro modeling of mammalian development using stem cells have recently enabled the revival of mechanistic studies of allochrony and heterochrony. In both cases, differences in the rate of basic cellular functions such as splicing, translation, protein degradation, and metabolism seem to underlie differences in developmental time. In the coming years, these studies should identify the genetic differences that drive divergence in developmental time between species.</p>","PeriodicalId":8035,"journal":{"name":"Annual review of genetics","volume":"57 ","pages":"117-134"},"PeriodicalIF":11.1,"publicationDate":"2023-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138443647","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
Transcription-Replication Conflicts as a Source of Genome Instability. 转录-复制冲突是基因组不稳定的一个来源。
IF 11.1 1区 生物学
Annual review of genetics Pub Date : 2023-11-27 Epub Date: 2023-08-08 DOI: 10.1146/annurev-genet-080320-031523
Liana Goehring, Tony T Huang, Duncan J Smith
{"title":"Transcription-Replication Conflicts as a Source of Genome Instability.","authors":"Liana Goehring, Tony T Huang, Duncan J Smith","doi":"10.1146/annurev-genet-080320-031523","DOIUrl":"10.1146/annurev-genet-080320-031523","url":null,"abstract":"<p><p>Transcription and replication both require large macromolecular complexes to act on a DNA template, yet these machineries cannot simultaneously act on the same DNA sequence. Conflicts between the replication and transcription machineries (transcription-replication conflicts, or TRCs) are widespread in both prokaryotes and eukaryotes and have the capacity to both cause DNA damage and compromise complete, faithful replication of the genome. This review will highlight recent studies investigating the genomic locations of TRCs and the mechanisms by which they may be prevented, mitigated, or resolved. We address work from both model organisms and mammalian systems but predominantly focus on multicellular eukaryotes owing to the additional complexities inherent in the coordination of replication and transcription in the context of cell type-specific gene expression and higher-order chromatin organization.</p>","PeriodicalId":8035,"journal":{"name":"Annual review of genetics","volume":" ","pages":"157-179"},"PeriodicalIF":11.1,"publicationDate":"2023-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10760935/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10219280","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Coral Reef Population Genomics in an Age of Global Change. 全球变化时代的珊瑚礁种群基因组学。
IF 11.1 1区 生物学
Annual review of genetics Pub Date : 2023-11-27 Epub Date: 2023-06-29 DOI: 10.1146/annurev-genet-022123-102748
Malin L Pinsky, René D Clark, Jaelyn T Bos
{"title":"Coral Reef Population Genomics in an Age of Global Change.","authors":"Malin L Pinsky, René D Clark, Jaelyn T Bos","doi":"10.1146/annurev-genet-022123-102748","DOIUrl":"10.1146/annurev-genet-022123-102748","url":null,"abstract":"<p><p>Coral reefs are both exceptionally biodiverse and threatened by climate change and other human activities. Here, we review population genomic processes in coral reef taxa and their importance for understanding responses to global change. Many taxa on coral reefs are characterized by weak genetic drift, extensive gene flow, and strong selection from complex biotic and abiotic environments, which together present a fascinating test of microevolutionary theory. Selection, gene flow, and hybridization have played and will continue to play an important role in the adaptation or extinction of coral reef taxa in the face of rapid environmental change, but research remains exceptionally limited compared to the urgent needs. Critical areas for future investigation include understanding evolutionary potential and the mechanisms of local adaptation, developing historical baselines, and building greater research capacity in the countries where most reef diversity is concentrated.</p>","PeriodicalId":8035,"journal":{"name":"Annual review of genetics","volume":" ","pages":"87-115"},"PeriodicalIF":11.1,"publicationDate":"2023-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9696383","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
How to Build a Fire: The Genetics of Autoinflammatory Diseases. 如何生火:自身炎症性疾病的遗传学。
IF 11.1 1区 生物学
Annual review of genetics Pub Date : 2023-11-27 Epub Date: 2023-08-10 DOI: 10.1146/annurev-genet-030123-084224
Jiahui Zhang, Pui Y Lee, Ivona Aksentijevich, Qing Zhou
{"title":"How to Build a Fire: The Genetics of Autoinflammatory Diseases.","authors":"Jiahui Zhang, Pui Y Lee, Ivona Aksentijevich, Qing Zhou","doi":"10.1146/annurev-genet-030123-084224","DOIUrl":"10.1146/annurev-genet-030123-084224","url":null,"abstract":"<p><p>Systemic autoinflammatory diseases (SAIDs) are a heterogeneous group of disorders caused by excess activation of the innate immune system in an antigen-independent manner. Starting with the discovery of the causal gene for familial Mediterranean fever, more than 50 monogenic SAIDs have been described. These discoveries, paired with advances in immunology and genomics, have allowed our understanding of these diseases to improve drastically in the last decade. The genetic causes of SAIDs are complex and include both germline and somatic pathogenic variants that affect various inflammatory signaling pathways. We provide an overview of the acquired SAIDs from a genetic perspective and summarize the clinical phenotypes and mechanism(s) of inflammation, aiming to provide a comprehensive understanding of the pathogenesis of autoinflammatory diseases.</p>","PeriodicalId":8035,"journal":{"name":"Annual review of genetics","volume":" ","pages":"245-274"},"PeriodicalIF":11.1,"publicationDate":"2023-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9974613","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
Manipulating the Destiny of Wild Populations Using CRISPR. 利用CRISPR操纵野生种群的命运。
IF 8.7 1区 生物学
Annual review of genetics Pub Date : 2023-11-27 Epub Date: 2023-09-18 DOI: 10.1146/annurev-genet-031623-105059
Robyn Raban, John M Marshall, Bruce A Hay, Omar S Akbari
{"title":"Manipulating the Destiny of Wild Populations Using CRISPR.","authors":"Robyn Raban, John M Marshall, Bruce A Hay, Omar S Akbari","doi":"10.1146/annurev-genet-031623-105059","DOIUrl":"10.1146/annurev-genet-031623-105059","url":null,"abstract":"<p><p>Genetic biocontrol aims to suppress or modify populations of species to protect public health, agriculture, and biodiversity. Advancements in genome engineering technologies have fueled a surge in research in this field, with one gene editing technology, CRISPR, leading the charge. This review focuses on the current state of CRISPR technologies for genetic biocontrol of pests and highlights the progress and ongoing challenges of using these approaches.</p>","PeriodicalId":8035,"journal":{"name":"Annual review of genetics","volume":" ","pages":"361-390"},"PeriodicalIF":8.7,"publicationDate":"2023-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11064769/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10308063","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Finding Needles in the Haystack: Strategies for Uncovering Noncoding Regulatory Variants. 大海捞针:发现非编码调控变异的策略。
IF 11.1 1区 生物学
Annual review of genetics Pub Date : 2023-11-27 Epub Date: 2023-08-10 DOI: 10.1146/annurev-genet-030723-120717
You Chen, Mauricio I Paramo, Yingying Zhang, Li Yao, Sagar R Shah, Yiyang Jin, Junke Zhang, Xiuqi Pan, Haiyuan Yu
{"title":"Finding Needles in the Haystack: Strategies for Uncovering Noncoding Regulatory Variants.","authors":"You Chen, Mauricio I Paramo, Yingying Zhang, Li Yao, Sagar R Shah, Yiyang Jin, Junke Zhang, Xiuqi Pan, Haiyuan Yu","doi":"10.1146/annurev-genet-030723-120717","DOIUrl":"10.1146/annurev-genet-030723-120717","url":null,"abstract":"<p><p>Despite accumulating evidence implicating noncoding variants in human diseases, unraveling their functionality remains a significant challenge. Systematic annotations of the regulatory landscape and the growth of sequence variant data sets have fueled the development of tools and methods to identify causal noncoding variants and evaluate their regulatory effects. Here, we review the latest advances in the field and discuss potential future research avenues to gain a more in-depth understanding of noncoding regulatory variants.</p>","PeriodicalId":8035,"journal":{"name":"Annual review of genetics","volume":" ","pages":"201-222"},"PeriodicalIF":11.1,"publicationDate":"2023-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9976778","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
Mechanisms Underlying Circuit Dysfunction in Neurodevelopmental Disorders. 神经发育障碍中电路功能障碍的机制。
IF 11.1 1区 生物学
Annual review of genetics Pub Date : 2022-11-30 Epub Date: 2022-09-02 DOI: 10.1146/annurev-genet-072820-023642
David Exposito-Alonso, Beatriz Rico
{"title":"Mechanisms Underlying Circuit Dysfunction in Neurodevelopmental Disorders.","authors":"David Exposito-Alonso, Beatriz Rico","doi":"10.1146/annurev-genet-072820-023642","DOIUrl":"10.1146/annurev-genet-072820-023642","url":null,"abstract":"<p><p>Recent advances in genomics have revealed a wide spectrum of genetic variants associated with neurodevelopmental disorders at an unprecedented scale. An increasing number of studies have consistently identified mutations-both inherited and de novo-impacting the function of specific brain circuits. This suggests that, during brain development, alterations in distinct neural circuits, cell types, or broad regulatory pathways ultimately shaping synapses might be a dysfunctional process underlying these disorders. Here, we review findings from human studies and animal model research to provide a comprehensive description of synaptic and circuit mechanisms implicated in neurodevelopmental disorders. We discuss how specific synaptic connections might be commonly disrupted in different disorders and the alterations in cognition and behaviors emerging from imbalances in neuronal circuits. Moreover, we review new approaches that have been shown to restore or mitigate dysfunctional processes during specific critical windows of brain development. Considering the heterogeneity of neurodevelopmental disorders, we also highlight the recent progress in developing improved clinical biomarkers and strategies that will help to identify novel therapeutic compounds and opportunities for early intervention.</p>","PeriodicalId":8035,"journal":{"name":"Annual review of genetics","volume":"56 ","pages":"391-422"},"PeriodicalIF":11.1,"publicationDate":"2022-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10749375","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 3D-Evo Space: Evolution of Gene Expression and Alternative Splicing Regulation. 3D-Evo空间:基因表达和选择性剪接调控的进化。
IF 11.1 1区 生物学
Annual review of genetics Pub Date : 2022-11-30 DOI: 10.1146/annurev-genet-071719-020653
Federica Mantica, Manuel Irimia
{"title":"The 3D-Evo Space: Evolution of Gene Expression and Alternative Splicing Regulation.","authors":"Federica Mantica,&nbsp;Manuel Irimia","doi":"10.1146/annurev-genet-071719-020653","DOIUrl":"https://doi.org/10.1146/annurev-genet-071719-020653","url":null,"abstract":"<p><p>Animal species present relatively high levels of gene conservation, and yet they display a great variety of cell type and tissue phenotypes. These diverse phenotypes are mainly specified through differential gene usage, which relies on several mechanisms. Two of the most relevant mechanisms are regulated gene transcription, usually referred to as gene expression (rGE), and regulated alternative splicing (rAS). Several works have addressed how either rGE or rAS contributes to phenotypic diversity throughout evolution, but a back-to-back comparison between the two molecular mechanisms, specifically highlighting both their common regulatory principles and unique properties, is still missing. In this review, we propose an innovative framework for the unified comparison between rGE and rAS from different perspectives: the three-dimensional (3D)-evo space. We use the 3D-evo space to comprehensively (<i>a</i>) review the molecular basis of rGE and rAS (i.e., the molecular axis), (<i>b</i>) depict the tissue-specific phenotypes they contribute to (i.e., the tissue axis), and (<i>c</i>) describe the determinants that drive the evolution of rGE and rAS programs (i.e., the evolution axis). Finally, we unify the perspectives emerging from the three axes by discussing general trends and specific examples of rGE and rAS tissue program evolution.</p>","PeriodicalId":8035,"journal":{"name":"Annual review of genetics","volume":"56 ","pages":"315-337"},"PeriodicalIF":11.1,"publicationDate":"2022-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10381890","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: 1
A Half Century Defining the Logic of Cellular Life. 半个世纪对细胞生命逻辑的定义。
IF 11.1 1区 生物学
Annual review of genetics Pub Date : 2022-11-30 DOI: 10.1146/annurev-genet-071719-021436
Lucy Shapiro
{"title":"A Half Century Defining the Logic of Cellular Life.","authors":"Lucy Shapiro","doi":"10.1146/annurev-genet-071719-021436","DOIUrl":"https://doi.org/10.1146/annurev-genet-071719-021436","url":null,"abstract":"<p><p>Over more than fifty years, I have studied how the logic that controls and integrates cell function is built into the dynamic architecture of living cells. I worked with a succession of exceptionally talented students and postdocs, and we discovered that the bacterial cell is controlled by an integrated genetic circuit in which transcriptional and translational controls are interwoven with the three-dimensional deployment of key regulatory and morphological proteins. <i>Caulobacter</i>'s interconnected genetic regulatory network includes logic that regulates sets of genes expressed at specific times in the cell cycle and mechanisms that synchronize the advancement of the core cyclical circuit with chromosome replication and cytokinesis. Here, I have traced my journey from New York City art student to Stanford developmental biologist.</p>","PeriodicalId":8035,"journal":{"name":"Annual review of genetics","volume":"56 ","pages":"1-15"},"PeriodicalIF":11.1,"publicationDate":"2022-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10385649","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
Genome Protection by DNA Polymerase θ. DNA聚合酶对基因组的保护作用。
IF 11.1 1区 生物学
Annual review of genetics Pub Date : 2022-11-30 Epub Date: 2022-08-26 DOI: 10.1146/annurev-genet-072920-041046
Richard D Wood, Sylvie Doublié
{"title":"Genome Protection by DNA Polymerase θ.","authors":"Richard D Wood, Sylvie Doublié","doi":"10.1146/annurev-genet-072920-041046","DOIUrl":"10.1146/annurev-genet-072920-041046","url":null,"abstract":"<p><p>DNA polymerase θ (Pol θ) is a DNA repair enzyme widely conserved in animals and plants. Pol θ uses short DNA sequence homologies to initiate repair of double-strand breaks by theta-mediated end joining. The DNA polymerase domain of Pol θ is at the C terminus and is connected to an N-terminal DNA helicase-like domain by a central linker. Pol θ is crucial for maintenance of damaged genomes during development, protects DNA against extensive deletions, and limits loss of heterozygosity. The cost of using Pol θ for genome protection is that a few nucleotides are usually deleted or added at the repair site. Inactivation of Pol θ often enhances the sensitivity of cells to DNA strand-breaking chemicals and radiation. Since some homologous recombination-defective cancers depend on Pol θ for growth, inhibitors of Pol θ may be useful in treating such tumors.</p>","PeriodicalId":8035,"journal":{"name":"Annual review of genetics","volume":"56 ","pages":"207-228"},"PeriodicalIF":11.1,"publicationDate":"2022-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10351424/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9782167","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 6
首页 上一页 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