Figure 2.

Absence of KASH5 proteins and meiotic arrest prior to pachytene stage in the male patient. (A) RT-PCR analysis of testicular samples from a man with obstructive azoospermia (serving as the control) and IV:4. ACTB served as the loading control. (B) Sequencing chromatograms of testicular cDNAs from the patient and control. The red arrow indicates the KASH5 mutation (c.1270_1273del). (C) Analysis of the expression of KASH5 in the testicular sample of IV:4 by western blotting. β-Actin served as a loading control. Arrows indicate the bands corresponding the protein of interest and the asterisk indicates the position of the predicted truncated protein. (D) Immunofluorescence staining of testicular sections for KASH5 (red) and γH2AX (green). The nuclei were stained with Hoechst 33342 (blue). Scale bars, 50 µm.