Figure 7.
Comparison of different RMRP mutants overexpressed in transiently transfected human wild-type fibroblasts, with reference to relative cell counts and endonucleolytic cleavage activity in ribosomal assembly and cyclin levels. A, Relative cell count normalized to the level at 12 h after transfection in anauxetic dysplasia mutants and the CHH founder mutation +70A→G, as compared with the wild-type transfected cells. B, Impaired growth correlating with decreased endonucleolytic cleavage activity investigated via the ratio of 5.8s rRNA bound to ITS-1 versus cleaved 5.8s rRNA normalized to 12 h after transfection. C, Decreased CCNA2 expression in naturally expressed anauxetic dysplasia mutations and less severe in the CHH founder mutation. D, Significantly increased CCNB2 expression in the +70A→G mutation. Note that the +14G→A mutation is not expressed in vivo.