Binding domain mutations provide insight into CTCF's relationship with chromatin and its contribution to gene regulation [0.03%]
结合结构域突变对理解CTCF与染色质的关系及其在基因调控中的作用提供了洞见
Catherine Do,Guimei Jiang,Giulia Cova et al.
Catherine Do et al.
Here we used a series of CTCF mutations to explore CTCF's relationship with chromatin and its contribution to gene regulation. CTCF's impact depends on the genomic context of bound sites and the unique binding properties of WT and mutant CT...
Cross-ancestry analyses of Chinese and European populations reveal insights into the genetic architecture and disease implication of metabolites [0.03%]
对中国人群和欧洲人群的跨血统分析揭示了代谢物的遗传特性和疾病含义的见解
Chenhao Lin,Mingfeng Xia,Yuxiang Dai et al.
Chenhao Lin et al.
Differential susceptibilities to various diseases and corresponding metabolite variations have been documented across diverse ethnic populations, but the genetic determinants of these disparities remain unclear. Here, we performed large-sca...
Hiroaki Takesue,Satoshi Okada,Goro Doi et al.
Hiroaki Takesue et al.
Expanding tandem gene arrays facilitates adaptation through dosage effects and gene family formation via sequence diversification. However, experimental induction of such expansions remains challenging. Here, we introduce a method termed br...
Recurrent breakpoints in the BRD4 locus reduce toxicity associated with gene amplification [0.03%]
BRD4基因位点的重复断裂可减少与基因扩增相关的毒性
Jeremiah Wala,Simona Dalin,Sophie Webster et al.
Jeremiah Wala et al.
Recent work by the ICGC-PCAWG consortium identified recurrent focal deletions in the BRD4 gene, decreasing expression despite increased copy number. We show that these focal deletions occur in the context of cyclin E1 amplification in breas...
Single-cell eQTL mapping reveals cell-type-specific genes associated with the risk of gastric cancer [0.03%]
单细胞eQTL定位揭示与胃癌风险相关的特异基因
Lijun Bian,Beiping Hu,Fengyuan Li et al.
Lijun Bian et al.
Most expression quantitative trait locus (eQTL) analyses have been conducted in heterogeneous gastric tissues, limiting understanding of cell-type-specific regulatory mechanisms. Here, we employed a pooled multiplexing strategy to profile 3...
Centromeric transposable elements and epigenetic status drive karyotypic variation in the eastern hoolock gibbon [0.03%]
着丝粒转座元件和表观遗传状态驱动东白臀长臂猿的核型变异
Gabrielle A Hartley,Mariam Okhovat,Savannah J Hoyt et al.
Gabrielle A Hartley et al.
Great apes have maintained a stable karyotype with few large-scale rearrangements; in contrast, gibbons have undergone a high rate of chromosomal rearrangements coincident with rapid centromere turnover. Here, we characterize fully assemble...
Spatial transcriptomics identifies novel Pseudomonas aeruginosa virulence factors [0.03%]
空间转录组学鉴定了新型绿脓杆菌毒力因子
Hao Zhou,Oscar Negrón,Serena Abbondante et al.
Hao Zhou et al.
To examine host-pathogen interactions, we leveraged a dual spatial transcriptomics approach that simultaneously captures the expression of Pseudomonas aeruginosa genes alongside the entire host transcriptome using a murine model of ocular i...
The breaking point where repeat expansion triggers neuronal collapse in Huntington's disease [0.03%]
亨廷顿氏病中重复扩展导致神经元崩溃的临界点
Michael D Flower,Sarah J Tabrizi
Michael D Flower
Somatic CAG expansion drives neuronal loss in Huntington's disease (HD), but how expansion results in pathogenesis has remained unclear. Handsaker et al.1 use single-cell RNA and repeat length sequencing to reveal a phased model of expansio...
Distance matters: How protein regulators facilitate enhancer-promoter interactions and transcription [0.03%]
距离很重要：蛋白质调节因子如何促进增强子-启动子相互作用及转录过程
Masahiro Nagano,Anders S Hansen
Masahiro Nagano
Cohesin, transcription factors (TFs), and mediator complex components regulate gene expression partly by regulating enhancer-promoter (E-P) communication. A new study combined E-P distance-controlled reporter screens with the inhibition or ...
Missing regulatory effects on complex traits: Contribution of distal variants [0.03%]
复杂特征中缺失的调控效应：远端变异的贡献
Sool Lee,Hakhamanesh Mostafavi
Sool Lee
Most genetic effects on complex traits lie in non-coding regions, yet many show no regulatory activity in standard gene expression assays. In this issue of Cell Genomics, Arthur et al.1 add early development-like cell types and chromatin as...