The effect of S309W mutation on SP7 genomic binding in chondrocytes

ABSTRACT: SP7/Osterix is a transcription factor critical for osteoblast maturation and bone formation. We identidied a missense variant (c.926C>G:p.S309W) in SP7 in a patient with a unique high turnover bone disease. Mice with the corresponding variant similarly showed a complex skeletal phenotype distinct from that of Sp7-null mice. We therefore performed ChIP-Seq in primary chondrocytes to study how the mutation alters the genomic binding of SP7.

ORGANISM(S): Mus musculus

PROVIDER: GSE151217 | GEO | 2021/12/22

REPOSITORIES: GEO