Fig. 3: Description of control and TOPAZ1 proband testis histology and aberrant acrosome formation. | Nature Communications

Fig. 3: Description of control and TOPAZ1 proband testis histology and aberrant acrosome formation.

From: A de novo paradigm for male infertility

Fig. 3

a, b H&E stainings of (a) control and (b) Proband_060 with pathogenic mutations in TOPAZ1 gene. The epithelium of the seminiferous tubules in the TOPAZ1 proband show reduced numbers of germ cells and an absence of elongating spermatids based on the analysis of 150 seminiferous tubules in control and patient. c, d immunofluorescent labeling of DNA (magenta) and the acrosome (green) in control sections (c) and TOPAZ1 proband sections (d). (c) The arrowhead indicates the acrosome in an early round spermatid and the arrows the acrosome in elongating spermatids. Spreading of the acrosome and nuclear elongation are hallmarks of spermatid maturation. (d) No acrosomal spreading (see arrowheads) or nuclear elongation is observed in the TOPAZ1 proband. The asterisk indicates an example of progressive acrosome accumulation without spreading. Scale bar: 40 µm (a, b) and 5 µm (c, d).

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