Figure 1.

Identification of DNAH6 variants in male infertility. (a) Lineage maps and Sanger sequencing results of patients carrying the DNAH6 variants are shown under their respective families. Black squares indicate mutant patients, namely AY0334, AY0159, and AY0283. Red arrows indicate the positions of point variants or the splicing mutation sites. (b) Protein structure diagram of DNAH6. Positions of the affected amino acid residue sites were illustrated on DNAH6 protein structure, and red arrows indicated the affected amino acid residue sites, which were highly conserved across species. The positions of the affected amino acid residues reported previously are marked in red. Colored squares indicated the different structural domains. M: mutation; WT: wild type; DHC_N2: dynein heavy chain, and N-terminal region 2; dynein heavy: dynein heavy chain and region D6 of dynein motor; MT: microtubule-binding stalk of dynein motor; AAA_1-6: hydrolytic ATP-binding dynein motor region; DNAH6: dynein axonemal heavy chain 6.