Fig. 2. Disorganized cilia with abnormal ciliary protein
expression in renal tubular cells of patient with NPHP1 deletion.
(A) Disorganized cilia in renal tubular cells of patient with NPHP1
deletion. Confocal immunomicroscopy of normal and patient kidney
sections stained with Arl13b and Ac-tubulin antibodies to detect primary
cilia and with IFT88 to detect basal body. Primary cilia appear shorter
and disorganized in epithelial cells of patient kidney sections. (E- F)
Quantification of ciliation and ciliary length (n=200). (B) Normal
expression of NPHP8 and abnormal expression of (C) NPHP4 in cilia of
renal tubular cells from the NPHP1 deletion patient. Confocal
immunomicroscopy of patient kidney sections stained for NPHP8 and NPHP4.
(G) Quantification of cells with abnormal expression of NPHP4 (n=50).
(D) Aberrant expression of phosphoinositide 5-phosphatases in cilia of
renal tubular cells from the NPHP1 deletion patient. Confocal
immunomicroscopy of patient kidney sections stained for INPP5E. (H)
Quantification of cells with abnormal expression (n=50). Statistical
analysis in E-H was performed using Student’s test, p<0.05 was
considered statistically significant. Scale bars: (A-C) 10 μm; (D)
magnified images 40 μm. (Arrow, marks primary cilia)