Figure 1: FANCC splicing, FANCC interaction domains, and minigene assay. (A) FANCC exon structure and the two splicing variants that could be detected via the cDNA analysis: FANCCins4a and FANCCΔ7. (B) RTPCR analysis on various cell lines using a set of primers specific for each event. (C) Schematic representation of FANCC, FANCCΔ7 and FANCCins4a interaction domains based on the literature. (D) Minigene assays; ratios of spliced and wildtype isoforms obtained from 3 different plasmids (constructs on which directed mutagenesis was performed). The short form is the FANCC mRNA with the exon 7 excluded where the long form includes exon 7. Ratios are normalized with respect to the wildtype plasmid. Upper graph shows the result of the reverse mutagenesis on the c.568c>t mutant to reestablish the wildtype sequence.