RNA-seq on Ano5 mutation mCOB

Gnathodiaphyseal dysplasia (GDD; OMIM#166260) is a rare autosomal dominant disorder characterized by diaphyseal sclerosis of tubular bones and cemento-osseous lesions in mandibles. GDD is caused by point mutations in the ANO5 gene. However, the mechanisms underlying GDD have not been disclosed. We previously generated the first knock-in mouse model for GDD expressing a human mutation (p.Cys360Tyr) in ANO5 and homozygous Ano5 knock-in (Ano5KI/KI) mice exhibited representative traits of human GDD, especially including enhanced osteogenesis. In the present study, RNA-seq analysis was used to explore differentially expressed genes and pathways of mature mouse calvarial osteoblasts (mCOBs) after 14-day osteogenic cultures from Ano5Cys360Tyr compared with Ano5+/+ mice.