Fig. 1: Homozygous loss-of-function mutations in MCM9 were identified in two unrelated patients with non-obstructive azoospermia. | Cell Death Discovery

Fig. 1: Homozygous loss-of-function mutations in MCM9 were identified in two unrelated patients with non-obstructive azoospermia.

From: MCM9 deficiency impairs DNA damage repair during spermatogenesis, leading to Sertoli cell-only syndrome in humans

Fig. 1

A Pedigree analysis and Sanger sequencing of two affected consanguineous families. B Evolutionary conservation and exon location of mutations MCM91151-1G>A and MCM91891C>T. C Western blotting (WB) analyses of MCM9 expression in testicular samples from the two probands and a control male, with β-Tubulin as the loading control. D Immunofluorescence (IF) staining of the testis sections with anti-MCM9 antibody (red) and Hoechst (blue) for the two probands and a control male. Scale bar, 20 μm. E Hematoxylin and eosin staining of testis sections from the two probands and a control male. Enlarged images show seminiferous tubules with only Sertoli cells in the mutant samples. Scale bar, 50 and 100 μm. NC, normal control; Ser, Sertoli cell; P, pachytene spermatocyte; rS, round spermatid; SP, spermatid.

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