Trial research of fibrous dysplasia model transplanted with GNAS1 mutant cells

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To replacement Arg201 with His in the Gs, we produced mutated GNAS1 gene (R201H) replacing with A instead of G of the human GNAS1 gene, which causes human fibrous dysplasia of bone (FD). To stably transfer the R201H into cultured cells, we constructed a lentiviral vector expressing R201H, and used it to transduce C57BL/6 mice-derived marrow stromal cells. We are now elucidating the cell proliferation and differentiation of the R201H-expressing cells and are going to make a mouse model by the orthotopic transplant of the transduced cells. In addition, we studied the method of highly precise genetic tests that we could distinguish it from other similar bone lesions. As a result, the real-time PCR using PNA probe and pyrosequencing method were more effective, compared to conventional PCR-restriction fragment length polymorphism.