PUS7 mRNA pseudouridylation is driven by RNA sequence, structure, and cell-type-specific features [0.03%]
由RNA序列、结构和细胞类型特异性特征驱动的PUS7 mRNA假尿苷化
Rebecca Rodell,Ronit Jain,Hossein Shenasa et al.
Rebecca Rodell et al.
PUS7 is a major mRNA pseudouridine synthase that influences gene expression and is dysregulated in neurodevelopmental disorders and cancer. PUS7 recognizes a prevalent and degenerate UNUAR sequence, but the mechanisms underlying PUS7's spec...
Chromatin topology and distal elements underlie divergent cell-type-specific regulation of 9p21 locus cell cycle genes [0.03%]
染色质拓扑与远端调控元件决定9p21位点细胞周期基因的细胞类型特异性表达模式
Elena Torlai Triglia,Tyler E Miller,Neva C Durand et al.
Elena Torlai Triglia et al.
The 9p21 locus encodes critical cell cycle regulators p16INK4A, p14ARF, and p15INK4B and contains a high density of SNPs associated with aging-related diseases. Progress toward understanding 9p21 regulatory mechanisms has been constrained b...
Gregory L Gedman,Kathleen Morrill Pirovich,Jonas Oppenheimer et al.
Gregory L Gedman et al.
Dire wolves (Aenocyon dirus) are extinct predators of Pleistocene North America. Although phenotypically similar to living wolves (Canis lupus), dire wolves have yet to be placed confidently in the canid family tree. We generated 3.4× and ...
Moksada Regmi,Kuiying Ma,Changhao Bi et al.
Moksada Regmi et al.
Base editing (BE), the precise installation of single-nucleotide changes in DNA or RNA without inducing double-strand breaks, holds substantial therapeutic promise for correcting single-nucleotide variants, which constitute more than half o...
Manuel Corpas,Heinner Guio,Segun Fatumo
Manuel Corpas
Genomics has entered a phase in which AI agents can autonomously discover, configure, execute, and chain bioinformatics operations from natural-language instructions. We term this paradigm "agentic genomics": the delegation of multi-step ge...
Are different populations fairly represented in single-cell omic atlases? [0.03%]
单细胞组学图谱中不同人群的代表性公平吗？
Catrina Yang,Kavitharini Saravanan,Aryan Saharan et al.
Catrina Yang et al.
Single-cell omic atlases are transforming biology and medicine, yet their demographic representativeness has not been systematically evaluated. We analyzed >13,500 samples from the Human Cell Atlas (HCA), Human Tumor Atlas Network (HTAN), a...
Systematic investigation reveals extensive Epstein-Barr virus transcriptional regulation of the human genome [0.03%]
系统调查揭示人类基因组的EB病毒转录调控广泛性
Phillip J Dexheimer,Matthew R Hass,Lee E Edsall et al.
Phillip J Dexheimer et al.
We systematically investigate interactions between Epstein-Barr virus (EBV) transcriptional regulators (viral transcriptional regulators [vTRs]) and the human genome. Starting with 16 known and candidate vTRs, we identify nine whose introdu...
Compound delivery of eVLPs enhances prime editing for targeted genome engineering and high-throughput screening [0.03%]
复合递送eVLP增强靶向基因组工程的先导编辑和高通量筛选
Jethro Langley,Lou Baudrier,Jada Curry et al.
Jethro Langley et al.
Engineered virus-like particles (eVLPs) enable transgene-free ribonucleoprotein delivery for genome editing, yet optimized strategies for high-throughput applications remain unexplored. Prime editing enables precise genomic modifications bu...
Craig Smail
Craig Smail
Large differences in gene dosage are usually associated with opposite phenotypic effects but show a bias toward one direction in aggregate genome wide. Milind et al. suggest that this is explained by differences in regulatory mechanisms by ...
Sai Zhang
Sai Zhang
Rare variant association analyses are typically performed at the single-gene level, overlooking the molecular interactions that organize cellular systems. In this issue, Nazeen et al. introduce NERINE, a probabilistic rare variant burden te...