Pluto Bioinformatics

GSE146524: Impact of liver-specific deletion of Dhcr24 gene on tissue gene expression

Bulk RNA sequencing

Genetic loss of the enzyme 3-hydroxysterol-24 reductase (DHCR24) results in Desmosterolosis (MIM #602398), a rare disease that presents with multiple congenital anomalies. Earlier studies to create a Dhcr24 global knockout mouse have failed as the pups died within 24 h of birth from lethal dermopathy. We generated a conditional knockout mouse model (Dhcr24flx/flx) and validated it by creating a liver-specific knockout Dhcr24flx/flx, Alb-Cre mouse using a mouse expressing cre recombinase driven by the albumin promoter. Despite increased circulatory and liver desmosterol due to loss of cholesterol synthesis in the liver, these mice demonstrated no marked changes in growth, fertility, hepatic architecture, lipoprotein secretion, etc. RNA-Seq analysis of the female mouse liver revealed no notable perturbations in pathways participating in cholesterol biosynthesis. SOURCE: Shailendra PatelPatel University of Cincinnati