Figure 1.

An HSF5 mutation in a family with meiotic arrest and male infertility. A) Pedigree structure of the infertile family. Squares represent male pedigree members, circles represent female pedigree members, solid symbols represent affected infertile pedigree members, and hollow symbols represent unaffected pedigree members. The proband is marked with a black arrow. Sequence chromatograms for the identified HSF5 mutation in this family are shown. The homozygotes are indicated by the red box, and the heterozygotes are indicated by the black box. B) Pattern diagram of the location of the variant in the human HSF5 gene and HSF5 protein; the variation site is indicated by a red arrow. The site of the HSF5 missense variant is evolutionarily conserved among different species. C) Histology of seminiferous tubules from controls and patients. H&E staining revealed sparse and disordered SPG and PS and nearly no postmeiotic cells in the patient testes compared to those in the control testes. The black arrows indicate the different types of spermatogenic cells. SPG, spermatogonium; PS, primary spermatocyte; RS, round spermatid; ES, elongating/elongated spermatid (Scale bars, 125 µm). D) Immunofluorescence staining showed an increase in TUNEL‐stained cells in the seminiferous tubules of the patients (Blue, DAPI; red, TUNEL; scale bars, 5 µm).