| 背景信息 |
Sp7 transcription factor (SP7), also known as Osterix, is a bone-specific zinc-finger transcriptional activator essential for osteoblast differentiation and skeletal formation. It functions downstream of Runx2, binding GC-rich motifs or interacting with Dlx factors to regulate the expression of major bone matrix genes like COL1A1 and BGLAP. SP7 controls the commitment and maturation of the osteoblast lineage, maintaining cortical bone integrity. Pathogenic variants in SP7 cause skeletal dysplasias, including forms of osteogenesis imperfecta characterized by bone fragility. Furthermore, genetic variations in SP7 are associated with bone mineral density variability and osteoporosis susceptibility. |