Figure 2.
PKHD1 expression in kidney tissue. The top panel shows relative PKHD1 expression in moderately affected patient F730 compared with the expression pattern in WT and kidney tissue from a patient with a truncating PKHD1 mutation and a severe form of autosomal recessive polycystic kidney disease (F304). *P<0.05; **P<0.001 compared with WT. The bottom panel shows the results of Western blot (WB) analysis using an antibody against the C-terminal end of polyductin (anti-polyductin, IZ-4-rb1) in renal tissue in the moderately affected patient carrying the homozygous mutation c.2130_2131insTA (F730) compared with the expression of two different wild-type tissues (WT1 and WT2, each different from the one used for RT-PCR experiments) and kidney tissue from a perinatally demised patient carrying the homozygous PKHD1 deletion c.4256_4257del (p.Arg1419fs) (F304).