Figure 1.

Enzymatic, Metabolic, and Phenotypic Correction of Transplanted Mice

(A) Schematic representation of the proviral form of the erythroid-specific SIN lentiviral vector ESpUROS. The following abbreviations are used: ΔU3, U3 region deleted of tata box and enhancer sequences; cPPT, central polypurine tract; CTS, central termination sequence; Δgag, truncated gag region; SA, splice acceptor site; SD, splice donor site; HS40, enhancer of the human α-globin gene; Ankp, ankyrin promoter of the human ankyrin gene; UROS, cDNA of uroporphyrinogene III synthase; and WPRE, woodchuck posttranscriptional regulatory element. The WPRE probe for Southern-blot analysis is indicated.

(B) UROS activity in BM cells 20 weeks after transplantation from unmanipulated wild-type BALB/cJ mice (+/+), from deficient CEP mice (CEP), and from the three treated groups of mice (groups I to III).

(C) Level of urinary-porphyrin accumulation in the different groups of mice determined by HPLC.

(D) Representative FACS analysis of the percentage of fluorocytes in peripheral blood from one mouse in each group of controls or treated mice.

(E) Percentage of fluorocytes monitored over time by FACS in all groups.

Values represent mean ± standard deviation (SD).