Temporal transcriptomic changes during neurodevelopment in a mouse model of Smith-Lemli-Opitz syndrome.

ABSTRACT: Smith-Lemli-Opitz syndrome (SLOS) is a cholesterol biosynthesis disorder caused by mutations in the DHCR7 gene, leading to reduced cholesterol production and accumulation of its precursor, 7-dehydrocholesterol. SLOS displays a wide range of neurodevelopmental defects, intellectual disability, and behavioral problems. However, an in-depth study of the temporal changes in gene expression in developing brains has not been conducted before. In this work, we carried out the transcriptomic analysis of whole brains from WT and Dhcr7-KO mice at embryonic day 12.5 (E12.5), E14.5, E16.5, and postnatal day 0 (PND0). First, we observed the expected downregulation of the Dhcr7 gene in the Dhcr7-KO brains, as well as changes in other genes involved in cholesterol biosynthesis at all time points. Pathway

SUBMITTER: Li A 

PROVIDER: S-EPMC12834667 | biostudies-literature | 2026 Mar

REPOSITORIES: biostudies-literature