Toward a foundation model of causal cell and tissue biology with a Perturbation Cell and Tissue Atlas

JE Rood, A Hupalowska, A Regev - Cell, 2024 - cell.com
Comprehensively charting the biologically causal circuits that govern the phenotypic space
of human cells has often been viewed as an insurmountable challenge. However, in the last …

[HTML][HTML] The method in the madness: Transcriptional control from stochastic action at the single-molecule scale

PH Whitney, T Lionnet - Current Opinion in Structural Biology, 2024 - Elsevier
Cell states result from the ordered activation of gene expression by transcription factors.
Transcription factors face opposing design constraints: they need to be dynamic to trigger …

[HTML][HTML] Rewriting regulatory DNA to dissect and reprogram gene expression

GE Martyn, MT Montgomery, H Jones, K Guo… - bioRxiv, 2023 - ncbi.nlm.nih.gov
Regulatory DNA sequences within enhancers and promoters bind transcription factors to
encode cell type-specific patterns of gene expression. However, the regulatory effects and …

Hijacked enhancer–promoter and silencer–promoter loops in cancer

X Wang, F Yue - Current Opinion in Genetics & Development, 2024 - Elsevier
Highlights•3D genome organization undergoes dramatic changes in cancer.•Oncogenes
can be ectopically activated by SV-induced enhancer hijacking.•Tumor suppressor genes …

TF-EPI: an interpretable enhancer-promoter interaction detection method based on Transformer

B Liu, W Zhang, X Zeng, M Loza, SJ Park… - Frontiers in …, 2024 - frontiersin.org
The detection of enhancer-promoter interactions (EPIs) is crucial for understanding gene
expression regulation, disease mechanisms, and more. In this study, we developed TF-EPI …

Linking regulatory variants to target genes by integrating single-cell multiome methods and genomic distance

ER Dorans, K Jagadeesh, K Dey, AL Price - medRxiv, 2024 - medrxiv.org
Methods that analyze single-cell paired RNA-seq and ATAC-seq multiome data have shown
great promise in linking regulatory elements to genes. However, existing methods differ in …

Cross-Phenotype GWAS Supports Shared Genetic Susceptibility to Systemic Sclerosis and Primary Biliary Cholangitis

Y Luo, A Khan, L Liu, CH Lee, GJ Perreault… - medRxiv, 2024 - medrxiv.org
Objective An increased risk of primary biliary cholangitis (PBC) has been reported in
patients with systemic sclerosis (SSc). Our study aims to investigate the shared genetic …

Cohesin-mediated 3D contacts tune enhancer-promoter regulation

P Guckelberger, BR Doughty, G Munson, SSP Rao… - bioRxiv, 2024 - biorxiv.org
Enhancers are key drivers of gene regulation thought to act via 3D physical interactions with
the promoters of their target genes. However, genome-wide depletions of architectural …

HyperCas12a enables highly-multiplexed epigenome editing screens

SM Melore, MC Hamilton, TE Reddy - bioRxiv, 2024 - biorxiv.org
Interactions between multiple genes or cis-regulatory elements (CREs) underlie a wide
range of biological processes in both health and disease. High-throughput screens using …

The Role of CTCF-Mediated Chromatin Looping in Enhancer-Promoter Communication

C Logie - Epigenetics in Biological Communication, 2024 - Springer
In vertebrates, gene transcription is performed by generic eukaryotic molecular machinery
under influence of sequence-specific DNA-binding transcription factors that control gene …