As an established diagnostic tool in the classification of FA patients (37), we next performed western blotting analysis on immortalized FA100166/1 fibroblasts, which revealed that exposure of the cells to MMC overnight did not lead to monoubiquitination of FANCD2 (Fig. 1A, lane 3), a central activation step in the FA pathway that is dependent on the normal function of the ‘early’ FA genes and also includes FANCI (1). The gene discussed is FANCI; the disease is Friedreich ataxia.