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