Nature Communications (Apr 2021)
Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease
- Stephen Watt,
- Louella Vasquez,
- Klaudia Walter,
- Alice L. Mann,
- Kousik Kundu,
- Lu Chen,
- Ying Sims,
- Simone Ecker,
- Frances Burden,
- Samantha Farrow,
- Ben Farr,
- Valentina Iotchkova,
- Heather Elding,
- Daniel Mead,
- Manuel Tardaguila,
- Hannes Ponstingl,
- David Richardson,
- Avik Datta,
- Paul Flicek,
- Laura Clarke,
- Kate Downes,
- Tomi Pastinen,
- Peter Fraser,
- Mattia Frontini,
- Biola-Maria Javierre,
- Mikhail Spivakov,
- Nicole Soranzo
Affiliations
- Stephen Watt
- Human Genetics, Wellcome Sanger Institute, Genome Campus
- Louella Vasquez
- Human Genetics, Wellcome Sanger Institute, Genome Campus
- Klaudia Walter
- Human Genetics, Wellcome Sanger Institute, Genome Campus
- Alice L. Mann
- Human Genetics, Wellcome Sanger Institute, Genome Campus
- Kousik Kundu
- Human Genetics, Wellcome Sanger Institute, Genome Campus
- Lu Chen
- Human Genetics, Wellcome Sanger Institute, Genome Campus
- Ying Sims
- Human Genetics, Wellcome Sanger Institute, Genome Campus
- Simone Ecker
- UCL Cancer Institute
- Frances Burden
- Department of Haematology, University of Cambridge
- Samantha Farrow
- Department of Haematology, University of Cambridge
- Ben Farr
- Human Genetics, Wellcome Sanger Institute, Genome Campus
- Valentina Iotchkova
- Human Genetics, Wellcome Sanger Institute, Genome Campus
- Heather Elding
- Human Genetics, Wellcome Sanger Institute, Genome Campus
- Daniel Mead
- Human Genetics, Wellcome Sanger Institute, Genome Campus
- Manuel Tardaguila
- Human Genetics, Wellcome Sanger Institute, Genome Campus
- Hannes Ponstingl
- Human Genetics, Wellcome Sanger Institute, Genome Campus
- David Richardson
- European Molecular Biology Laboratory, European Bioinformatics Institute
- Avik Datta
- European Molecular Biology Laboratory, European Bioinformatics Institute
- Paul Flicek
- European Molecular Biology Laboratory, European Bioinformatics Institute
- Laura Clarke
- European Molecular Biology Laboratory, European Bioinformatics Institute
- Kate Downes
- Department of Haematology, University of Cambridge
- Tomi Pastinen
- Center for Pediatric Genomic Medicine, Children’s Mercy
- Peter Fraser
- Nuclear Dynamics Programme, Babraham Institute
- Mattia Frontini
- Department of Haematology, University of Cambridge
- Biola-Maria Javierre
- Nuclear Dynamics Programme, Babraham Institute
- Mikhail Spivakov
- Nuclear Dynamics Programme, Babraham Institute
- Nicole Soranzo
- Human Genetics, Wellcome Sanger Institute, Genome Campus
- DOI
- https://doi.org/10.1038/s41467-021-22548-8
- Journal volume & issue
-
Vol. 12,
no. 1
pp. 1 – 12
Abstract
PU.1 is a master regulator of myeloid development but its role in disease-relevant neutrophils is not well known. Here, the authors look at primary neutrophils from a human population and find that genetic variants affecting binding of PU.1 are associated with cell count and disease susceptibility.
