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. 2019 Nov 14;105(6):1148–1167. doi: 10.1016/j.ajhg.2019.10.007

Figure 2.

Figure 2

Characterization of the Sperm Morphological and Ultra-structural Phenotype of Individual TTC29_1 Carrying the c.176+1G>A Mutation

(A) Schorr staining of semen smears from individual TTC29_1, carrying the c.176+1G>A mutation, showing sperm without normally constituted flagella such as coiled flagella and flagella of irregular caliber. Scale bars represent 10 μm.

(B) TEM analysis of spermatozoa from individual TTC29_1, carrying the c.176+1G>A mutation, showing abnormal flagellum assembly with a reduced mitochondrial sheath and abnormal axonemal cross sections with a lack of the central pair. Ac, acrosome; N, nucleus; M, mitochondria; Ax, axoneme; FS, fibrous sheath. Black arrows indicate abnormal structures. Scale bars represent 1 μm and 100 nm.

(C) Immunofluorescence staining of spermatozoa from control and individual TTC29_1, carrying the c.176+1G>A mutation, with SPAG6 antibody (in red) and Tubulin (in green). Cells were counterstained with DAPI (blue) as nuclei marker. Scale bars represent 5 μm.