Fig. 2

Biochemical characterization of CIAO1 and MMS19 deficiency. A. The urinary uracil and thymine concentrations from all 3 study patients (patient 1, blue circle; patient 2, orange square; and patient 3, brown triangle) and boxplots of the urinary uracil and thymine concentrations in DPYD-deficient patients and controls. B. The results of the DPD activity analysis in fibroblasts cultured at 37°C and 30°C. C. An immunoblot analysis of DPD, CIAO1, and MMS19 in fibroblasts from the 3 study patients, a DPYD-deficient patient and 2 controls, cultured at 37°C and 30°C. D. The immunoblot analysis of CIAO1 and DPD in fibroblasts of patients 1, 2, and a DPYD-deficient patient, stable-transfected with wild-type CIAO1. E. The immunoblot analysis of MMS19 and DPD in fibroblasts of patient 3 and a DPYD-deficient patient, stable-transfected with wild-type MMS19. Control fibroblasts C (10 μg protein) and C∗ (1 μg protein). F. The reappearance of the DPD activity in fibroblasts of the patients 1 and 2 stably transfected with wild-type CIAO1 and in fibroblasts of patient 3 stably transfected with wild-type MMS19.