抄録
The genetic background and key gene for congenital scoliosis has not yet been clarified. Ishibashi rats (IS) have congenital malformations of the lumbar vertebrae leading to kyphoscoliosis similar to that seen in human. This study investigated characteristics and gene expression of IS to provide insights into human congenital scoliosis.To characterize skeletal malformations of lumbar vertebrae in IS, radiographic and staining studies were performed.Then the gene expression profile of Hox10 and 11 paralogues, whose critical roles in determination of phenotypes of lumbar and sacral vertebrae are well known, between IS and Wistar strain rats by Real Time-PCR was studied.Significant differences on skeletal structures between IS and Wistar were found: (1) transitional vertebrae; (2) anterior wedged vertebra; (3) union of anterior vertebrae; (4) an additional vertebra (7th lumbar vertebra). Especially, transitional vertebra was frequently observed.Staining studies of IS fetuses revealed the fusion of primary ossification centers in the lumbar vertebral column, which was not observed in cervical and thoracic vertebral column.Regarding gene expression of Hox10 and 11 paralogues, the expression of some of these paralogues had low level in lumbar/ sacral region of vertebral column compared with that of Wistar.Our results indicate that Hox10 and 11 paralogues play critical roles in generating vertebrae of IS phenotype. Further work is in progress to elucidate the expression profile of Hox10 and 11 paralogues in the axial skeleton of IS. [J Physiol Sci. 2006;56 Suppl:S102]
