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Revisiting the blueprint for an interpretable virtual cell. 重新审视可解释虚拟细胞的蓝图。
IF 52 1区 生物学 Q1 GENETICS & HEREDITY Pub Date : 2026-02-05 DOI: 10.1038/s41576-026-00940-8
Angela Ruohao Wu
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引用次数: 0
Revisiting the molecular workhorse: plasmids in evolutionary conflict 重访分子主力:进化冲突中的质粒
IF 42.7 1区 生物学 Q1 GENETICS & HEREDITY Pub Date : 2026-02-04 DOI: 10.1038/s41576-026-00942-6
Nathaniel R. Campbell, Yogesh Goyal
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引用次数: 0
Navigating ethical, legal and social implications in genomic newborn screening 导航伦理,法律和社会影响基因组新生儿筛查
IF 42.7 1区 生物学 Q1 GENETICS & HEREDITY Pub Date : 2026-02-04 DOI: 10.1038/s41576-026-00936-4
Anna C. F. Lewis, Gemma Brown, , Arzoo Ahmed, Mutiat Afolabi, Anja Bedeker, François Boemer, Bimal Chaudhari, John Christodoulou, Ziyi Dai, Harriet Etheredge, Jan Friedman, Amy Gaviglio, Aaron Goldenberg, Claudia Gonzaga-Jauregui, Robert Green, Elizabeth Jalazo, Subhashini Jagu, Saumya Shekhar Jamuar, Anubhav Kaphle, Bartha Maria Knoppers, Ainsley Newson, Dimitri Patrinos, Amicia Phillips, Vasiliki Rahimzadeh, Zornitza Stark, Teck Wah Ting, Danya Vears, Loren Walker, Yvonne Bombard
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引用次数: 0
The genetic foundations of convergent traits. 趋同性状的遗传基础。
IF 52 1区 生物学 Q1 GENETICS & HEREDITY Pub Date : 2026-02-02 DOI: 10.1038/s41576-026-00933-7
John B Allard, Sudhir Kumar

Convergent phenotypic evolution, the independent acquisition of similar or nearly identical traits in multiple species, is widespread throughout the tree of life. These cases of repeated evolution offer an opportunity to investigate shared genetic changes underlying shared traits, thereby linking genotypes to phenotypes. Genetic convergence can take many forms: identical amino acid or nucleotide substitutions; non-identical changes in orthologous genes or other elements; losses or gains of the same genetic elements; or convergent shifts in molecular evolutionary characteristics, such as substitution rates, amino acid preferences and selection strength. However, identifying adaptive genetic convergence, whereby evolved traits provide a fitness advantage, is challenging due to a pervasive background of random convergence that causes low signal-to-noise ratios. Numerous computational methods, including machine learning and artificial intelligence approaches, have been developed to detect, interpret and predict molecular convergence across multiple levels of genetic organization in multicellular organisms. These emerging approaches offer novel avenues to uncover the genetic foundations of complex and biomedically important traits.

趋同表型进化,在多个物种中独立获得相似或几乎相同的特征,在整个生命树中广泛存在。这些重复进化的案例为研究共同特征下的共同遗传变化提供了机会,从而将基因型与表型联系起来。遗传趋同可以有多种形式:相同的氨基酸或核苷酸取代;同源基因或其他成分发生不相同的变化;相同遗传因素的损失或获得;或者分子进化特征的趋同变化,比如取代率、氨基酸偏好和选择强度。然而,由于普遍存在导致低信噪比的随机收敛背景,识别适应性遗传收敛是具有挑战性的,因此进化特征提供了适应度优势。包括机器学习和人工智能方法在内的许多计算方法已经被开发出来,用于检测、解释和预测多细胞生物中多个遗传组织水平的分子趋同。这些新兴的方法为揭示复杂和生物医学上重要特征的遗传基础提供了新的途径。
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引用次数: 0
High-throughput identification of aptamer-target pairs with SPARK-seq. 用SPARK-seq高通量鉴定适配体-目标对。
IF 42.7 1区 生物学 Q1 GENETICS & HEREDITY Pub Date : 2026-01-29 DOI: 10.1038/s41576-026-00938-2
Qin Wu
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引用次数: 0
Bridging behaviour and genomics for tsetse fly control. 采采蝇控制的桥接行为和基因组学。
IF 42.7 1区 生物学 Q1 GENETICS & HEREDITY Pub Date : 2026-01-29 DOI: 10.1038/s41576-026-00932-8
Daniel Masiga
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引用次数: 0
Emergence and evolution of protein-coding de novo genes. 蛋白质编码新生基因的出现和进化。
IF 42.7 1区 生物学 Q1 GENETICS & HEREDITY Pub Date : 2026-01-28 DOI: 10.1038/s41576-025-00929-9
Erich Bornberg-Bauer,Lars A Eicholt
De novo genes generally refer to genes that arise from previously non-coding sequences. This evolutionary path - when randomly expressed sequences become folded and active proteins - challenges our understanding of genetic innovation and has prompted studies to address the evolutionary and mechanistic knowledge gaps. More specifically, prior work has illuminated the mechanisms underlying the origin of de novo genes, their potential functional roles in the cell and the evolutionary processes that lead to these functions. Recent advances in both experimental and computational approaches have contributed to insights into the emergence of de novo genes and the broader implications for our understanding of biological complexity. In this Review, we place particular emphasis on efforts to quantify the likelihood of de novo gene emergence in eukaryotes given genomic characteristics, as well as the mechanisms by which de novo protein structures that are not actively selected against become amenable to selection-driven changes.
新生基因一般是指从以前的非编码序列中产生的基因。这种进化路径——当随机表达的序列变成折叠和活跃的蛋白质——挑战了我们对基因创新的理解,并促使研究解决了进化和机制方面的知识空白。更具体地说,先前的工作已经阐明了新生基因起源的机制,它们在细胞中的潜在功能作用以及导致这些功能的进化过程。实验和计算方法的最新进展有助于深入了解新生基因的出现,并对我们对生物复杂性的理解产生更广泛的影响。在这篇综述中,我们特别强调了量化在给定基因组特征的真核生物中新生基因出现的可能性的努力,以及没有被主动选择的新生蛋白质结构如何适应选择驱动的变化的机制。
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引用次数: 0
Long non-coding RNAs as orchestrators of dosage compensation. 长链非编码rna作为剂量补偿的协调者。
IF 42.7 1区 生物学 Q1 GENETICS & HEREDITY Pub Date : 2026-01-27 DOI: 10.1038/s41576-026-00934-6
Lauren J Hodkinson,Erica N Larschan
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引用次数: 0
Bringing methylation profile scores to early life. 将甲基化谱评分带入早期生活。
IF 42.7 1区 生物学 Q1 GENETICS & HEREDITY Pub Date : 2026-01-15 DOI: 10.1038/s41576-026-00930-w
Isabel K Schuurmans,Janine F Felix,Matthew Suderman,Paul Yousefi,Charlotte A M Cecil
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引用次数: 0
Regulation of gene expression by alternative polyadenylation in health and disease. 健康和疾病中选择性聚腺苷酸化对基因表达的调节。
IF 42.7 1区 生物学 Q1 GENETICS & HEREDITY Pub Date : 2026-01-15 DOI: 10.1038/s41576-025-00928-w
Bin Tian,Shan Yu,Qiang Zhang
More than half of the human protein-coding genes display alternative polyadenylation (APA), whereby 3'-end processing of the nascent RNA takes place at different sites. APA leads to mRNA isoforms containing different 3' untranslated regions (3'UTRs), which generally modulate mRNA metabolism in cis but can also exert cellular functions in trans. In addition, intronic APA alters protein sequences at the carboxy-terminal region or inhibits gene expression through premature transcription termination. APA is increasingly recognized as a key layer of transcriptomic regulation that defines cell identity and proliferation and/or differentiation states, as well as controlling cellular responses to environmental cues. The relevance of APA for human health is highlighted by the many pathological conditions that are associated with APA dysregulation, including cancer, developmental disorders and neurodegeneration, as well as the disease risks associated with a growing number of genetic variations shown to affect APA. Here, we discuss physiological and pathological APA dynamics, the human mutations and genetic variants that are associated with changes in APA, and our current understanding of the functional effects and regulatory mechanisms of APA.
超过一半的人类蛋白质编码基因显示选择性聚腺苷化(APA),即新生RNA的3'端加工发生在不同的位置。APA导致含有不同3‘非翻译区(3’ utr)的mRNA异构体,这些异构体通常在顺式中调节mRNA代谢,但在反式中也可以发挥细胞功能。此外,内含子APA在羧基末端区域改变蛋白质序列或通过过早终止转录抑制基因表达。APA越来越被认为是转录组调控的关键层,它定义细胞身份、增殖和/或分化状态,以及控制细胞对环境信号的反应。许多与APA失调相关的病理状况,包括癌症、发育障碍和神经退行性疾病,以及与越来越多显示影响APA的遗传变异相关的疾病风险,都突出了APA与人类健康的相关性。在这里,我们讨论了APA的生理和病理动态,与APA变化相关的人类突变和遗传变异,以及我们目前对APA的功能作用和调节机制的理解。
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引用次数: 0
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Nature Reviews Genetics
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