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Low input capture Hi-C (liCHi-C) identifies promoter-enhancer interactions at high-resolution.

Published version
Peer-reviewed

Type

Article

Change log

Authors

Tomás-Daza, Laureano 
Rovirosa, Llorenç 
López-Martí, Paula 
Nieto-Aliseda, Andrea 

Abstract

Long-range interactions between regulatory elements and promoters are key in gene transcriptional control; however, their study requires large amounts of starting material, which is not compatible with clinical scenarios nor the study of rare cell populations. Here we introduce low input capture Hi-C (liCHi-C) as a cost-effective, flexible method to map and robustly compare promoter interactomes at high resolution. As proof of its broad applicability, we implement liCHi-C to study normal and malignant human hematopoietic hierarchy in clinical samples. We demonstrate that the dynamic promoter architecture identifies developmental trajectories and orchestrates transcriptional transitions during cell-state commitment. Moreover, liCHi-C enables the identification of disease-relevant cell types, genes and pathways potentially deregulated by non-coding alterations at distal regulatory elements. Finally, we show that liCHi-C can be harnessed to uncover genome-wide structural variants, resolve their breakpoints and infer their pathogenic effects. Collectively, our optimized liCHi-C method expands the study of 3D chromatin organization to unique, low-abundance cell populations, and offers an opportunity to uncover factors and regulatory networks involved in disease pathogenesis.

Description

Keywords

Humans, Regulatory Sequences, Nucleic Acid, Promoter Regions, Genetic, Gene Expression Regulation, Chromatin, Enhancer Elements, Genetic

Journal Title

Nat Commun

Conference Name

Journal ISSN

2041-1723
2041-1723

Volume Title

14

Publisher

Springer Science and Business Media LLC
Sponsorship
Medical Research Council (MR/R015724/1)
Medical Research Council (MR/V005413/1)
Medical Research Council (MC_PC_17230)