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Identification of endothelial and mesenchymal FOXF1 enhancers involved in alveolar capillary dysplasia
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Identification of endothelial and mesenchymal FOXF1 enhancers involved in alveolar capillary dysplasia
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Journal Article
Identification of endothelial and mesenchymal FOXF1 enhancers involved in alveolar capillary dysplasia
2024
Overview
Mutations in the
FOXF1
gene, a key transcriptional regulator of pulmonary vascular development, cause Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins, a lethal lung disease affecting newborns and infants. Identification of new
FOXF1
upstream regulatory elements is critical to explain why frequent non-coding
FOXF1
deletions are linked to the disease. Herein, we use multiome single-nuclei RNA and ATAC sequencing of mouse and human patient lungs to identify four conserved endothelial and mesenchymal
FOXF1
enhancers. We demonstrate that endothelial
FOXF1
enhancers are autoactivated, whereas mesenchymal
FOXF1
enhancers are regulated by EBF1 and GLI1. The cell-specificity of
FOXF1
enhancers is validated by disrupting these enhancers in mouse embryonic stem cells using CRISPR/Cpf1 genome editing followed by lineage-tracing of mutant embryonic stem cells in mouse embryos using blastocyst complementation. This study resolves an important clinical question why frequent non-coding
FOXF1
deletions that interfere with endothelial and mesenchymal enhancers can lead to the disease.
Mutations in
FOXF1
, a key transcriptional regulator of pulmonary vascular development, cause Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. Here, the authors discovered four genomic regions that control cell type-specific activity of
Foxf1
during lung development and show that disrupting these regions via genetic deletions leads to alveolar capillary dysplasia.
Publisher
Nature Publishing Group UK,Nature Publishing Group,Nature Portfolio
Subject
/ 13/31
/ 38/91
/ 45
/ 45/100
/ 45/15
/ 45/41
/ 45/70
/ 64
/ 64/60
/ Alveoli
/ Animals
/ CRISPR
/ Embryonic Stem Cells - metabolism
/ Endothelial Cells - metabolism
/ Enhancer Elements, Genetic - genetics
/ Forkhead Transcription Factors - genetics
/ Forkhead Transcription Factors - metabolism
/ Humanities and Social Sciences
/ Humans
/ Mice
/ Mutation
/ Neonates
/ Persistent Fetal Circulation Syndrome - genetics
/ Persistent Fetal Circulation Syndrome - metabolism
/ Persistent Fetal Circulation Syndrome - pathology
/ Pulmonary Alveoli - abnormalities
/ Science
/ Veins
