Altered Sox9 and FGF signaling gene expression in Aga2 OI mice negatively affects linear growth.

ABSTRACT: Osteogenesis imperfecta (OI), or brittle bone disease, is a disorder characterized by bone fragility and increased fracture incidence. All forms of OI also feature short stature, implying an effect on endochondral ossification. Using the Aga2+/- mouse, which has a mutation in type I collagen, we show an affected growth plate primarily due to a shortened proliferative zone. We used single-cell RNA-Seq analysis of tibial and femoral growth plate tissues to understand transcriptional consequences on growth plate cell types. We show that perichondrial cells, which express abundant type I procollagen, and growth plate chondrocytes, which were found to express low amounts of type I procollagen, had ER stress and dysregulation of the same unfolded protein response pathway as previously demonstrat

SUBMITTER: Zieba J 

PROVIDER: S-EPMC10721276 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature