Bulk RNA-seq analysis of paraspinal muscles, spinal cord, and vertebrae from HDAC4 V275E knock-in mice
This project investigates the molecular mechanisms underlying congenital vertebral malformations associated with HDAC4 dysfunction. Bulk RNA sequencing was performed on paraspinal muscle, spinal cord, and vertebrae tissues collected from 15-week-old female Hdac4 V275E knock-in mice, including homozygous, heterozygous, and wild-type genotypes. The V275E mutation in mice corresponds to the human V276E variant. Transcriptomic profiling aims to identify HDAC4-related gene expression changes involved in the pathogenesis of congenital spinal deformities.