抄録
The genetic background and key gene for congenital scoliosis has not yet been clarified. Ishibashi rats (IS) have congenital malformations of lumbar vertebrae leading to kyphoscoliosis similar to that seen in human. Analysis of IS may thus provide insights into the genetic causes of human congenital scoliosis. We characterized skeletal malformations of lumbar vertebrae in IS by roentgenographic study and double staining. Then, we screened for the difference of gene expression of Hox10 and 11 paralogues, which were well known playing critical roles in the determination of characteristics of lumbar and sacral vertebrae, between IS and Wistar strain rats by Real Time-PCR. Significant differences on skeletal structures between IS and Wistar were found: transitional vertebrae; anterior wedged vertebra; union of anterior vertebrae; an additional vertebra. Especially, transitional vertebra was frequently observed (77%). Double staining of IS fetuses appeared the union of primary ossification centers in the lumbar vertebral column, and these changes was not observed in other vertebral column.Analyses of Hox10 and 11 paralogues by quantitative RT-PCR, the expression level in lumbar/ sacral vertebral column was, relative to those of Wistar, dramatically decreased except for Hox a10 and c11.Hox 10 and 11 paralogues may play significant role in the elaboration of the transitional vertebrae. To elucidate the difference of expression pattern of Hox between IS and Wister, we started whole mount in-situ hybridization. [J Physiol Sci. 2007;57 Suppl:S176]
