E2F1 Mediates SOX17 Deficiency-Induced Pulmonary Hypertension.

ABSTRACT:

Rationale

Rare genetic variants and genetic variation at loci in an enhancer in SRY-Box Transcription Factor 17 (SOX17) are identified in patients with idiopathic pulmonary arterial hypertension (PAH) and PAH with congenital heart disease. However, the exact role of genetic variants or mutation in SOX17 in PAH pathogenesis has not been reported.

Objectives

To investigate the role of SOX17 deficiency in pulmonary hypertension (PH) development.

Methods

Human lung tissue and endothelial cells (ECs) from IPAH patients were used to determine the expression of SOX17. Tie2Cre-mediated and EC-specific deletion of Sox17 mice were assessed for PH development. Single-cell RNA sequencing analysis, human lung ECs, and smooth muscle cell culture were performed to determine the role

SUBMITTER: Yi D 

PROVIDER: S-EPMC9949178 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature