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Advisory Board and Contents 咨询委员会和内容
IF 11.4 2区 生物学 Q1 GENETICS & HEREDITY Pub Date : 2024-08-05 DOI: 10.1016/s0168-9525(24)00156-2
No Abstract
无摘要
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引用次数: 0
Subscription and Copyright Information 订阅和版权信息
IF 11.4 2区 生物学 Q1 GENETICS & HEREDITY Pub Date : 2024-08-05 DOI: 10.1016/s0168-9525(24)00159-8
No Abstract
无摘要
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引用次数: 0
From genetic associations to genes: methods, applications, and challenges. 从基因关联到基因:方法、应用和挑战。
IF 13.6 2区 生物学 Q1 GENETICS & HEREDITY Pub Date : 2024-08-01 Epub Date: 2024-05-11 DOI: 10.1016/j.tig.2024.04.008
Ting Qi, Liyang Song, Yazhou Guo, Chang Chen, Jian Yang

Genome-wide association studies (GWASs) have identified numerous genetic loci associated with human traits and diseases. However, pinpointing the causal genes remains a challenge, which impedes the translation of GWAS findings into biological insights and medical applications. In this review, we provide an in-depth overview of the methods and technologies used for prioritizing genes from GWAS loci, including gene-based association tests, integrative analysis of GWAS and molecular quantitative trait loci (xQTL) data, linking GWAS variants to target genes through enhancer-gene connection maps, and network-based prioritization. We also outline strategies for generating context-dependent xQTL data and their applications in gene prioritization. We further highlight the potential of gene prioritization in drug repurposing. Lastly, we discuss future challenges and opportunities in this field.

全基因组关联研究(GWAS)发现了许多与人类特征和疾病相关的基因位点。然而,精确定位因果基因仍然是一项挑战,这阻碍了将全基因组关联研究结果转化为生物学见解和医学应用。在这篇综述中,我们深入概述了用于从 GWAS 基因座中确定基因优先顺序的方法和技术,包括基于基因的关联测试、GWAS 和分子数量性状基因座(xQTL)数据的综合分析、通过增强子-基因连接图将 GWAS 变异与目标基因联系起来以及基于网络的优先顺序确定。我们还概述了生成上下文相关 xQTL 数据的策略及其在基因优先排序中的应用。我们进一步强调了基因优先排序在药物再利用中的潜力。最后,我们讨论了该领域未来的挑战和机遇。
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引用次数: 0
A personality SNP? Behavioral genetics in African cichlids. 性格 SNP?非洲慈鲷的行为遗传学
IF 13.6 2区 生物学 Q1 GENETICS & HEREDITY Pub Date : 2024-08-01 Epub Date: 2024-06-15 DOI: 10.1016/j.tig.2024.06.001
Daniel F Hughes

Speciation is familiar in radiations, but personality is not. In a recent article, Sommer-Trembo et al. linked exploratory behavior in African cichlids to a SNP in the promoter of a gene, the homolog of which is associated with human personality disorders, offering clues about the first fish of this radiation, with implications for vertebrate evolution.

物种繁衍在辐射中很常见,但人格却不常见。在最近的一篇文章中,Sommer-Trembo 等人将非洲慈鲷的探索行为与一个基因启动子中的 SNP 联系起来,该基因的同源物与人类的人格障碍有关,从而提供了有关这种辐射的第一种鱼类的线索,并对脊椎动物的进化产生了影响。
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引用次数: 0
Tropical trees inherit low-frequency somatic mutations. 热带树木会遗传低频率的体细胞突变。
IF 13.6 2区 生物学 Q1 GENETICS & HEREDITY Pub Date : 2024-08-01 Epub Date: 2024-07-15 DOI: 10.1016/j.tig.2024.05.003
Sou Tomimoto, Akiko Satake

A new study by Schmitt et al. revealed that somatic mutations in tropical trees are passed on to their offspring. Furthermore, the study noted that the majority of inherited mutations were present at low allelic frequencies within the tree.

施密特等人的一项新研究发现,热带树木的体细胞突变会遗传给后代。此外,该研究还指出,大多数遗传突变在树体内的等位基因频率较低。
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引用次数: 0
Positive-strand RNA virus genome replication organelles: structure, assembly, control. 正链 RNA 病毒基因组复制细胞器:结构、组装和控制。
IF 13.6 2区 生物学 Q1 GENETICS & HEREDITY Pub Date : 2024-08-01 Epub Date: 2024-05-08 DOI: 10.1016/j.tig.2024.04.003
Johan A den Boon, Masaki Nishikiori, Hong Zhan, Paul Ahlquist

Positive-strand RNA [(+)RNA] viruses include pandemic SARS-CoV-2, tumor-inducing hepatitis C virus, debilitating chikungunya virus (CHIKV), lethal encephalitis viruses, and many other major pathogens. (+)RNA viruses replicate their RNA genomes in virus-induced replication organelles (ROs) that also evolve new viral species and variants by recombination and mutation and are crucial virus control targets. Recent cryo-electron microscopy (cryo-EM) reveals that viral RNA replication proteins form striking ringed 'crowns' at RO vesicle junctions with the cytosol. These crowns direct RO vesicle formation, viral (-)RNA and (+)RNA synthesis and capping, innate immune escape, and transfer of progeny (+)RNA genomes into translation and encapsidation. Ongoing studies are illuminating crown assembly, sequential functions, host factor interactions, etc., with significant implications for control and beneficial uses of viruses.

正链 RNA [(+)RNA] 病毒包括大流行病 SARS-CoV-2、诱发肿瘤的丙型肝炎病毒、使人衰弱的基孔肯雅病毒 (CHIKV)、致命的脑炎病毒以及许多其他主要病原体。(+)RNA病毒在病毒诱导的复制细胞器(ROs)中复制其RNA基因组,这些细胞器还通过重组和变异演化出新的病毒种类和变种,是重要的病毒控制目标。最近的低温电子显微镜(cryo-EM)发现,病毒 RNA 复制蛋白在 RO 囊泡与细胞质的连接处形成了引人注目的环状 "冠"。这些 "冠 "指导 RO 囊泡的形成、病毒 (-)RNA 和 (+)RNA 的合成和封盖、先天性免疫逃逸,以及将后代 (+)RNA 基因组转入翻译和封装。正在进行的研究揭示了病毒冠的组装、顺序功能、宿主因子相互作用等,对病毒的控制和有益利用具有重要意义。
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引用次数: 0
Epigenome-metabolism nexus in the retina: implications for aging and disease. 视网膜的表观基因组-代谢关系:对衰老和疾病的影响。
IF 13.6 2区 生物学 Q1 GENETICS & HEREDITY Pub Date : 2024-08-01 Epub Date: 2024-05-22 DOI: 10.1016/j.tig.2024.04.012
Anupam K Mondal, Mohita Gaur, Jayshree Advani, Anand Swaroop

Intimate links between epigenome modifications and metabolites allude to a crucial role of cellular metabolism in transcriptional regulation. Retina, being a highly metabolic tissue, adapts by integrating inputs from genetic, epigenetic, and extracellular signals. Precise global epigenomic signatures guide development and homeostasis of the intricate retinal structure and function. Epigenomic and metabolic realignment are hallmarks of aging and highlight a link of the epigenome-metabolism nexus with aging-associated multifactorial traits affecting the retina, including age-related macular degeneration and glaucoma. Here, we focus on emerging principles of epigenomic and metabolic control of retinal gene regulation, with emphasis on their contribution to human disease. In addition, we discuss potential mitigation strategies involving lifestyle changes that target the epigenome-metabolome relationship for maintaining retinal function.

表观基因组修饰与代谢物之间的密切联系暗示了细胞代谢在转录调控中的关键作用。视网膜是一个高代谢组织,它通过整合遗传、表观遗传和细胞外信号的输入来进行适应。精确的全球表观基因组特征指导着错综复杂的视网膜结构和功能的发育与平衡。表观基因组和新陈代谢的调整是衰老的标志,凸显了表观基因组-新陈代谢关系与影响视网膜的衰老相关多因素特征(包括老年性黄斑变性和青光眼)之间的联系。在此,我们将重点介绍视网膜基因调控的表观基因组和代谢控制的新原理,并强调它们对人类疾病的影响。此外,我们还讨论了针对表观基因组-代谢组关系改变生活方式以维持视网膜功能的潜在缓解策略。
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引用次数: 0
A three-dimensional genomics view for speciation research. 用于物种研究的三维基因组学视图。
IF 13.6 2区 生物学 Q1 GENETICS & HEREDITY Pub Date : 2024-08-01 Epub Date: 2024-06-15 DOI: 10.1016/j.tig.2024.05.009
Ashwini V Mohan, Paula Escuer, Camille Cornet, Kay Lucek

Genomic information is folded in a three-dimensional (3D) structure, a rarely explored evolutionary driver of speciation. Technological advances now enable the study of 3D genome structures (3DGSs) across the Tree of Life. At the onset of 3D speciation genomics, we discuss the putative roles of 3DGSs in speciation.

基因组信息折叠成三维(3D)结构,这是一个很少被探索的物种进化驱动因素。现在,技术的进步使得研究生命之树的三维基因组结构(3DGSs)成为可能。在开始研究三维物种基因组学时,我们讨论了三维基因组结构在物种演化中的可能作用。
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引用次数: 0
Out of the dark: the emerging roles of lncRNAs in pain. 走出黑暗:lncRNA 在疼痛中的新作用。
IF 13.6 2区 生物学 Q1 GENETICS & HEREDITY Pub Date : 2024-08-01 Epub Date: 2024-06-25 DOI: 10.1016/j.tig.2024.04.009
Abdella M Habib, James J Cox, Andrei L Okorokov

The dark genome, the nonprotein-coding part of the genome, is replete with long noncoding RNAs (lncRNAs). These functionally versatile transcripts, with specific temporal and spatial expression patterns, are critical gene regulators that play essential roles in health and disease. In recent years, FAAH-OUT was identified as the first lncRNA associated with an inherited human pain insensitivity disorder. Several other lncRNAs have also been studied for their contribution to chronic pain and genome-wide association studies are frequently identifying single nucleotide polymorphisms that map to lncRNAs. For a long time overlooked, lncRNAs are coming out of the dark and into the light as major players in human pain pathways and as potential targets for new RNA-based analgesic medicines.

黑暗基因组(基因组的非蛋白编码部分)充满了长非编码 RNA(lncRNA)。这些功能多变的转录本具有特定的时间和空间表达模式,是关键的基因调控因子,在健康和疾病中发挥着至关重要的作用。近年来,FAAH-OUT 被确定为第一个与遗传性人类疼痛不敏感症相关的 lncRNA。人们还研究了其他一些 lncRNA 对慢性疼痛的影响,全基因组关联研究也经常发现与 lncRNA 有关的单核苷酸多态性。长期被忽视的 lncRNA 正在走出黑暗,走向光明,成为人类疼痛通路中的主要参与者,以及基于 RNA 的新型镇痛药物的潜在靶点。
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引用次数: 0
The ribosome’s comeback: new role in body weight regulation 核糖体卷土重来:在体重调节中发挥新作用
IF 11.4 2区 生物学 Q1 GENETICS & HEREDITY Pub Date : 2024-07-31 DOI: 10.1016/j.tig.2024.07.006

The recent discovery of an association between ribosomal DNA (rDNA) copy number and body mass index (BMI) by Law et al. sheds light on a possible role of 45S rDNA in body-weight regulation. This finding opens new avenues for further investigations into the effect of rDNA on various human phenotypes.

Law 等人最近发现核糖体 DNA(rDNA)拷贝数与体重指数(BMI)之间存在关联,这揭示了 45S rDNA 在体重调节中可能扮演的角色。这一发现为进一步研究 rDNA 对人类各种表型的影响开辟了新途径。
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引用次数: 0
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Trends in Genetics
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