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Research: Cohesin organizes 3D DNA contacts surrounding active enhancers in C. elegans
- Jun Kim,
- Haoyu Wang,
- and Sevinç Ercan
Genome Res. May 2025 35: 1108-1123; Published in Advance April 10, 2025, doi:10.1101/gr.279365.124
...with the lack of CTCF (Fig. 1). The X Chromosomes contain weaker compartments along with loop-anchored TADs, formed by a condensin I variant that functions in dosage compensation (DC) in hermaphrodites (Crane et al. 2015; Anderson et al. 2019; Bian et al. 2020; Kim et al. 2022; Morao et al. 2022; Sawh and Mango...
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Research: Pathogenic variants in CRX have distinct cis-regulatory effects on enhancers and silencers in photoreceptors
- James L. Shepherdson,
- Ryan Z. Friedman,
- Yiqiao Zheng,
- Chi Sun,
- Inez Y. Oh,
- David M. Granas,
- Barak A. Cohen,
- Shiming Chen,
- and Michael A. White
Genome Res. February 2024 34: 243-255; Published in Advance February 14, 2024, doi:10.1101/gr.278133.123
...of chromatin accessibility was assigned using a DNase I hypersensitivity analysis (Wilken et al. 2015). Group A sequences are positive for the promoter-associated H3K4me3 epigenetic mark (Vermeulen et al. 2010) and H3K27ac, a mark associated with active CREs (Creyghton et al. 2010), and they are largely...
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Research: A genome-wide survey reveals a diverse array of enhancers coordinates the Drosophila innate immune response
- Lianne B Cohen,
- Tamara Hadzic,
- Caitlin Sauer,
- Julia R Gibbs,
- and Zeba Wunderlich
Genome Res. April 15, 2026 gr.281432.125; Published in Advance April 15, 2026, doi:10.1101/gr.281432.125
...that modulate gene expression by binding transcription 16 factors (TFs). While enhancers and transcription factor binding sites (TFBS) have been 17 identified for several immune responsive genes in Drosophila, most enhancers that regulate 18 immune-induced genes are unknown. By identifying enhancers, we can...
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Research: Androgen receptor–mediated assisted loading of the glucocorticoid receptor modulates transcriptional responses in prostate cancer cells
- Johannes Hiltunen,
- Laura Helminen,
- Niina Aaltonen,
- Kaisa-Mari Launonen,
- Hanna Laakso,
- Marjo Malinen,
- Einari A. Niskanen,
- Jorma J. Palvimo,
- and Ville Paakinaho
Genome Res. August 2025 35: 1717-1732; Published in Advance June 2, 2025, doi:10.1101/gr.280224.124
...accessibility, can subsequently facilitate the binding of other TFs to the same enhancer (Swinstead et al. 2018; Hiltunen et al. 2024). This cooperative action among TFs, known as TF cross talk, further broadens the cell's gene expression patterns. Moreover, TF cooperation is recognized as a hallmark of active...
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Research: Comprehensive functional annotation of ESR1-driven enhancers in breast cancer reveals hierarchical activity independent of genomic and epigenomic contexts
- Yanis Zekri,
- Sebastian Gregoricchio,
- Elif Yapıcı,
- Chia-Chi Flora Huang,
- Tunç Morova,
- Umut Berkay Altıntaş,
- Gozde Korkmaz,
- Nathan A. Lack,
- and Wilbert Zwart
Genome Res. July 2025 35: 1530-1543; Published in Advance June 10, 2025, doi:10.1101/gr.280320.124
...contribution of the epi to selective enhancer activation by ESR1 remains to be fully elucidated. To address this, we employ a massively parallel reporter assay to profile 7576 individual ESR1 binding sites for hormone responsiveness. Only a minority of ESR1-occupied enhancers exhibit hormone-induced activity...
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Research: Integrating genetic variation with deep learning provides context for variants impacting transcription factor binding during embryogenesis
- Olga M. Sigalova,
- Mattia Forneris,
- Frosina Stojanovska,
- Bingqing Zhao,
- Rebecca R. Viales,
- Adam Rabinowitz,
- Fayrouz Hammal,
- Benoît Ballester,
- Judith B. Zaugg,
- and Eileen E.M. Furlong
Genome Res. May 2025 35: 1138-1153; Published in Advance April 15, 2025, doi:10.1101/gr.279652.124
...to produce RPGC-normalized and background-subtracted bigWig files, when a matching ChIP input was available in the database (Methods) (Supplemental Table S5); 19 DNase hypersensitivity tracks from whole embryos and FACS-purified muscle and neuronal cells (Reddington et al. 2020); and six ChIP-seq tracks from...
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Research: Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia
- Hao Zhu,
- Jiao Zhang,
- Soumya Rao,
- Matthew D. Durbin,
- Ying Li,
- Ruirui Lang,
- Jiqiang Liu,
- Baichuan Xiao,
- Hailin Shan,
- Ziqiu Meng,
- Jinmo Wang,
- Xiaokai Tang,
- Zhenni Shi,
- Liza L. Cox,
- Shouqin Zhao,
- Stephanie M. Ware,
- Tiong Y. Tan,
- Michelle de Silva,
- Lyndon Gallacher,
- Ting Liu,
- Jie Mi,
- Changqing Zeng,
- Hou-Feng Zheng,
- Qingguo Zhang,
- Stylianos E. Antonarakis,
- Timothy C. Cox,
- and Yong-Biao Zhang
Genome Res. May 2025 35: 1065-1079; Published in Advance April 15, 2025, doi:10.1101/gr.280047.124
...calculation, which was adjusted according to the respective populations. Additionally, we utilized HaploReg to annotate deleterious-associated variants to identify those potentially affecting SHROOM3 expression. Variants situated in enhancer or promoter regions, as indicated by histone or DNase marks in stem...
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Research: Transposon wave remodeled the epigenomic landscape in the rapid evolution of X-Chromosome dosage compensation
- David C.H. Metzger,
- Imogen Porter,
- Brendan Mobley,
- Benjamin A. Sandkam,
- Lydia J.M. Fong,
- Andrew P. Anderson,
- and Judith E. Mank
Genome Res. November 2023 33: 1917-1931; Published in Advance November 21, 2023, doi:10.1101/gr.278127.123
...will provide key insights into the role of YY1 and the regulation of chromosome structure, enhancer–promoter interactions, and nucleation factors for the binding and spreading of dosage compensation machinery on the P. picta X Chromosome. Although some cases of sex chromosome dosage compensation are associated...
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Research: Mapping multitissue regulatory variants reveals a liver-centric coexpression network associated with duck egg-laying performance
- Yang Xi,
- Jingjing Qi,
- Zhao Yang,
- Yutian Zeng,
- Huicong Zhang,
- Qiuyu Tao,
- Mengru Xu,
- Anqi Huang,
- Shenqiang Hu,
- Chunchun Han,
- Lili Bai,
- Jiwei Hu,
- Jiwen Wang,
- Liang Li,
- Lingzhao Fang,
- and Hehe Liu
Genome Res. October 2025 35: 2211-2225; Published in Advance September 10, 2025, doi:10.1101/gr.280345.124
...QTL) mapping, which aims to explore the functional impacts of genomic variants in their native genomic and biological contexts (Aguet et al. 2023). Among different types of molQTL, gene expression QTL (eQTL) have been widely studied, particularly in humans. For example, the Genotype-Tissue Expression (GTEx...
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Research: Analyzing super-enhancer temporal dynamics reveals potential critical enhancers and their gene regulatory networks underlying skeletal muscle development
- Song Zhang,
- Chao Wang,
- Shenghua Qin,
- Choulin Chen,
- Yongzhou Bao,
- Yuanyuan Zhang,
- Lingna Xu,
- Qingyou Liu,
- Yunxiang Zhao,
- Kui Li,
- Zhonglin Tang,
- and Yuwen Liu
Genome Res. December 2024 34: 2190-2202; Published in Advance October 21, 2024, doi:10.1101/gr.278344.123
...networks mediated by potential critical enhancers based on TF motif scanning and coexpression relationships among TFs, eRNAs, and target genes. (7) Refinement of trait-affecting regulatory network by identifying candidate critical enhancers within SEs, characterized by eRNA transcription and GWAS variants...

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