Fig. 1 | Nature Communications

Fig. 1

From: Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella

Fig. 1

Sperm morphology and ultrastructure in the two MMAF patients. a, b The pedigree structure and segregation analysis in two families. Squares represent male pedigree members, circles represent female pedigree members, solid symbols represent members with MMAF, and open symbols represent unaffected members; the probands are indicated by black arrows. c The malformations of sperm flagella in the two MMAF individuals. The absent, short, thick, or coiled flagella and other MMAF phenotypes were observed in two patients compared with the normal control by SEM (scale bars, 5 µm). d The abnormal ultrastructures of the mid-piece and principal piece of sperm flagella in two patients. By TEM, in the mid-piece, PA exhibited an atypical 9 + 0 arrangement of axonemal microtubules, and the CP and OD defects were observed in PB. The principal piece of the PA and PB flagella consist of incomplete and disorganized OD and ODF and lack CP. Fibrous sheaths were not apparent, especially for PB. (scale bars, 100 nm)

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