Lanosterol synthase mutations cause cholesterol deficiency–associated cataracts in the Shumiya cataract rat
J. Clin. Invest. 116:2 doi:10.1172/JCI20797 [Go to this article.]

Figure 6
Fdft1 mutations and reduced FDFT1 activity in SCRs.

(A) Alignment of regions of Fdft1 cDNA sequence derived from SCR and ACI rats. Nucleotide substitutions at positions 204, 486, and 588 in SCR Fdft1 are indicated in bold. The I196K amino acid substitution caused by 588T→A is also shown. (B) Comparison of FDFT1 activity in rat liver microsome, as determined by amount of postsqualene metabolites converted from [³H]farnesyl diphosphate (mean dpm ± SD). *P < 0.05 versus ACI rats (Student’s t test). Western blot image of rat hepatic FDFT1 is shown at the top.