Figure 4. Expression analysis of CFAP47 in the spermatozoa from a male control individual and men harboring hemizygousCFAP47 variants.
(a) Structural illustration of the missense mutation in CFAP47. (b) Immunoblotting assays revealed that CFAP47 was dramatically reduced in the spermatozoa from patients harboring CFAP47 mutation. (c) Immunofluorescence staining reflected a marked decline in CFAP47 expression in the patients’ sperm compared with that in the normal control (Blue, DAPI; red, α-tubulin; green, CFAP47; scale bars, 5 μm).
Figure 5. The altered expression of key molecules involved in spermatogenesis is mediated by CFAP47.
The protein interaction network was predicted by in silico software STRING for the human CFAP47 protein. (b) Co-immunoprecipitation analysis showing the binding of CFAP47 with CFAP69 using human testis lysates. (c) Immunoblotting assays revealed that CFAP65 and CFAP69 were dramatically reduced in the spermatozoa from patients harboring CFAP47 mutations. (d and e) The signals of CFAP69 (D) and CFAP65 (E) were clearly reduced in the sterile patients by fluorescence detection (Blue, DAPI; green, CFAP47; red, CFAP65 and CFAP69; scale bars: 5μm).
Table 1. Semen and variant analysis in the two patients harboring hemizygous a recurrent CFAP47 mutation
Table 2. Clinical features of the patients’ spouses with ICSI treatment