Fig. 2.

Negative influence of LRRC6 mutation on its expression. a Exonic organization of the human LRRC6 cDNA, in which the 12 exons are shown as boxes, and the mutation of the corresponding protein is located at the 6th exon (bottom). The domain organization model of LRRC6 exhibits LRR domains, a modified LRR domain, a coiled-coil domain, a polylysine motif, and a CS p23-like domain. b A part of the protein alignment of LRRC6 shows the evolutionary conservation in p.W250* among different species. The black arrow denotes the position of the variant (p. W250*). c Results of immunofluorescence staining obtained from the patient’s sperm showed little expression of LRRC6 compared to the normal control (scale bars, 5 μm; red, LRRC6; green, α-tubulin; blue, DAPI). d We detected no expression of LRRC6 in the patient’s sperm by western blotting analysis. e No immunofluorescence staining was observed for LRRC6 in the testes from the patient compared to the normal control