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Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease.

Published version
Peer-reviewed

Type

Article

Change log

Authors

Watt, Stephen 
Vasquez, Louella 
Mann, Alice L 

Abstract

Neutrophils play fundamental roles in innate immune response, shape adaptive immunity, and are a potentially causal cell type underpinning genetic associations with immune system traits and diseases. Here, we profile the binding of myeloid master regulator PU.1 in primary neutrophils across nearly a hundred volunteers. We show that variants associated with differential PU.1 binding underlie genetically-driven differences in cell count and susceptibility to autoimmune and inflammatory diseases. We integrate these results with other multi-individual genomic readouts, revealing coordinated effects of PU.1 binding variants on the local chromatin state, enhancer-promoter contacts and downstream gene expression, and providing a functional interpretation for 27 genes underlying immune traits. Collectively, these results demonstrate the functional role of PU.1 and its target enhancers in neutrophil transcriptional control and immune disease susceptibility.

Description

Keywords

Adult, Aged, Autoimmune Diseases, Chromatin, Chromatin Immunoprecipitation Sequencing, Enhancer Elements, Genetic, Female, Gene Expression Regulation, Humans, Male, Middle Aged, Neutrophils, Promoter Regions, Genetic, Proto-Oncogene Proteins, Quantitative Trait Loci, Trans-Activators, Young Adult

Journal Title

Nat Commun

Conference Name

Journal ISSN

2041-1723
2041-1723

Volume Title

12

Publisher

Springer Science and Business Media LLC
Sponsorship
National Institute for Health and Care Research (IS-BRC-1215-20014)