Fig. 4.

Expression and localization of TSGA10 in the proband’s sperm compared with the normal. a Domains in the TSGA10, the predicted mutant TSGA10. The full-length protein is 698 amino acids (aa). Domain with putative phosphodiesterase activity, aa 41 to 200 (blue box); domain that can interact with HIF1A, aa 556 to 689 (green box); the maintenance of the chromosome (Smc) domain, aa 140 to 504 (orange box). The p. A370Efs*293 mutation is located at the Smc domain of the TSGA10 protein and the truncated protein harbors a 293aa frameshift sequence. The 37aa, which was truncated, presented high-conserved among different species. b Western blot was performed on the proband’s sperm, using the normal sperm as a control. c The immunostaining of the proband’s sperm compared with the normal. The nucleus and tail of the sperm are stained with DAPI (blue) and α-Tubulin (red), respectively. The localization of TSGA10 in sperm from the proband and normal control were demonstrated by immunofluorescence staining with TSGA10 antibody (green). Scale bars: 5 μm