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Gain-of-function MUC5B Promoter Variant, Strongly Linked to Idiopathic Pulmonary Fibrosis, Defines an Epigenetically Poised Enhancer (ATAC-seq)

ABSTRACT: Gain-of-function MUC5B Promoter Variant, Strongly Linked to Idiopathic Pulmonary Fibrosis, Defines an Epigenetically Poised Enhancer (ATAC-seq)

PROVIDER: PRJNA662222 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR12606576.fastq.gz	Fastqsanger.gz
	SRR12606577.fastq.gz	Fastqsanger.gz
	SRR12606578_1.fastq.gz	Fastqsanger.gz
	SRR12606578_2.fastq.gz	Fastqsanger.gz
	SRR12606579_1.fastq.gz	Fastqsanger.gz

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Gain-of-function MUC5B Promoter Variant, Strongly Linked to Idiopathic Pulmonary Fibrosis, Defines an Epigenetically Poised Enhancer

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Gain-of-function MUC5B Promoter Variant, Strongly Linked to Idiopathic Pulmonary Fibrosis, Defines an Epigenetically Poised Enhancer (ATAC-seq)

Project description:The G/T transversion, rs35705950, located approximately 3 kb upstream of the MUC5B start site, is the cardinal risk factor for IPF. Here, we investigate the function and chromatin structure of this -3 kb region and provide evidence that it functions as a classically defined enhancer subject to epigenetic programming. We use nascent transcript analysis to show that RNA polymerase II loads within 10 bp of the G/T transversion site, definitively establishing enhancer function for the region. By integrating ATAC-seq analysis of fresh and cultured human airway epithelial cells with nuclease sensitivity data, we demonstrate that this region is in accessible chromatin that affects the expression of MUC5B. Through applying paired single nucleus RNA- and ATAC-seq to frozen tissue from IPF lungs, we extend these findings directly to disease, with results indicating that epigenetic programming of the -3 kb enhancer in IPF occurs in both MUC5B-expressing and non-expressing lineages. In aggregate, our results indicate that the MUC5B-associated variant, rs35705950, resides within an enhancer that is subject to epigenetic remodeling and contributes to pathologic misexpression in IPF.

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Project description:Idiopathic pulmonary fibrosis (IPF), a fatal disease that is a result of complex interactions between genetics and the environment, has limited treatment options. We have identified the MUC5B promoter polymorphism and other common genetic variants that in aggregate explain roughly one-third of disease risk. The MUC5B promoter polymorphism is the strongest and the most replicated genetic risk factor for IPF, appears to be protective and predictive in this disease, and is likely involved in disease pathogenesis through an increase in MUC5B expression in terminal bronchi and honeycombed cysts. Expression of MUC5B is also highly correlated with expression of cilium genes in IPF lung. Our work suggests that mucociliary dysfunction in the distal airway may play a role in the development of progressive fibroproliferative lung disease. In addition, our work has important implications for secondary prevention, early detection, and future early and personalized treatment based on genetic profiles.

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