ArticleNucleic acids research2017
Regulatory dynamics of 11p13 suggest a role for EHF in modifying CF lung disease severity.
Article in Nucleic acids research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 18 citations in OpenAlex.
- Chromosomal positioning and epigenetic architecture influence DNA methylation patterns triggered by galactic cosmic radiation.Scientific reports · 2024Article
- Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients.American journal of respiratory and critical care medicine · 2023Article
- The roles of ETS transcription factors in liver fibrosis.Human cell · 2023Review
- Krüppel-Like Factor 5 Regulates CFTR Expression Through Repression by Maintaining Chromatin Architecture Coupled with Direct Enhancer Activation.Journal of molecular biology · 2022Article
- Human Molecular Genetics and the long road to treating cystic fibrosis.Human molecular genetics · 2021Review
- Microarray analysis identifies defects in regenerative and immune response pathways in COPD airway basal cells.ERJ open research · 2020Article
- A functional genomics approach to investigate the differentiation of iPSCs into lung epithelium at air-liquid interface.Journal of cellular and molecular medicine · 2020Article
- Looping of upstream cis-regulatory elements is required for CFTR expression in human airway epithelial cells.Nucleic acids research · 2020Article
- Coordinate regulation of ELF5 and EHF at the chr11p13 CF modifier region.Journal of cellular and molecular medicine · 2019Article
- Cell-Selective Regulation of CFTR Gene Expression: Relevance to Gene Editing Therapeutics.Genes · 2019Review
- High-throughput Identification of Gene Regulatory Sequences Using Next-generation Sequencing of Circular Chromosome Conformation Capture (4C-seq).Journal of visualized experiments : JoVE · 2018Article
- Recent advances in developing therapeutics for cystic fibrosis.Human molecular genetics · 2018Review
- Hepatic expression profiling identifies steatosis-independent and steatosis-driven advanced fibrosis genes.JCI insight · 2018Article
- A transcription factor network repressesThe Biochemical journal · 2018Article
- Airway Mucosal Host Defense Is Key to Genomic Regulation of Cystic Fibrosis Lung Disease Severity.American journal of respiratory and critical care medicine · 2018Article
- Recent Progress in CFTR Interactome Mapping and Its Importance for Cystic Fibrosis.Frontiers in pharmacology · 2017Review
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
Abstract
Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause cystic fibrosis (CF), but are not good predictors of lung phenotype. Genome-wide association studies (GWAS) previously identified additional genomic sites associated with CF lung disease severity. One of these, at chromosome 11p13, is an intergenic region between Ets homologous factor (EHF) and Apaf-1 interacting protein (APIP). Our goal was to determine the functional significance of this region, which being intergenic is probably regulatory. To identify cis-acting elements, we used DNase-seq and H3K4me1 and H3K27Ac ChIP-seq to map open and active chromatin respectively, in lung epithelial cells. Two elements showed strong enhancer activity for the promoters of EHF and the 5' adjacent gene E47 like ETS transcription factor 5 (ELF5) in reporter gene assays. No enhancers of the APIP promoter were found. Circular chromosome conformation capture (4C-seq) identified direct physical interactions of elements within 11p13. This confirmed the enhancer-promoter associations, identified additional interacting elements and defined topologically associating domain (TAD) boundaries, enriched for CCCTC-binding factor (CTCF). No strong interactions were observed with the APIP promoter, which lies outside the main TAD encompassing the GWAS signal. These results focus attention on the role of EHF in modifying CF lung disease severity.
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Registered trials
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