Figure 1.

Defective Formation of Sperm Flagella in Individuals with WDR66 Mutations

(A–D) Light-microscopy analysis of sperm from control (A) and affected (B–D) individuals reveals MMAF in the individuals. Scale bars, 10 μm.

(E and F) TEM micrographs of cross-sections through sperm cell midpieces. (E) Control sperm show a homogeneous ring-like mitochondrial sheath (MS) surrounding nine outer dense fibers (ODFs, arrowheads) and the central axoneme, characterized by the typical presence of nine microtubule doublets (MDs, arrows) and two central microtubule singlets (MSs). (F) Representative sperm from an affected man show a partitioned MS, abnormally positioned and assembled ODFs and MDs, and the absence of the MS. Scale bars, 200 nm.