DNAH1 gene mutations and their potential association with dysplasia of the sperm fibrous sheath and infertility in the Han Chinese population  Yanwei Sha, M.D., Xiaoyu Yang, M.D., Libin Mei, Ph.D., Zhiyong Ji, M.D., Xu Wang, M.D., Lu Ding, M.D., Ping Li, M.D., Shenmin Yang, M.D.  Fertility and Sterility  Volume 107, Issue 6, Pages 1312-1318.e2 (June 2017) DOI: 10.1016/j.fertnstert.2017.04.007 Copyright © 2017 Terms and Conditions

Figure 1 Multiple morphologic abnormalities of the flagella and DNAH1 pedigree map of the P10-P11 family. (A) The map. II:1 = P10, the proband; II:2 = P11. (B) Morphology of sperm. The sperm from P10-P11 showed varied tail lengths. The sperm tail was lost, and the flagella was short, bent, coiled, or irregularly wide. Sperm were examined after Papanicolaou staining. (C) Electron microscopic morphology of sperm from P10-P11. (a) The main part and the whole end of the sperm tail are missing (black arrow), and the arrangement of mitochondrial sheath is disordered (red arrow). (b) The majority of the sperm tail is missing, except for the partial midsection (black arrow), and no mitochondrial sheath was present (red arrow). (c, d) The arrangement of mitochondrial sheath was disordered, the 9+2 structure was missing or disarranged, and the outer dynein arms were missing (red arrows). (e, f) Normal human sperm. Fertility and Sterility 2017 107, 1312-1318.e2DOI: (10.1016/j.fertnstert.2017.04.007) Copyright © 2017 Terms and Conditions

Figure 2 DNAH1 protein levels in patients P10 and P12 (siblings) and healthy control subjects N1 and N2. (A) Protein levels were determined with the use of Western blotting, and the density of bands was quantified. Tublin was used as the loading control. The results are expressed as the mean ± SD of three independent experiments. Data were analyzed with the use of SPSS 17.0 software. Significant difference (P≤.01) between patients and normal control subjects, based on the Student t test. (B) DNAH1 protein expressions were determined with the use of immunofluorescence assay (×40 magnification). N1 and N2, healthy controls (×40 magnification). MMAF = multiple morphological abnormalities of the flagella; DNAH1 = dynein, axonemal, heavy chain 1; DFS = dysplasia of the fibrous sheath. Fertility and Sterility 2017 107, 1312-1318.e2DOI: (10.1016/j.fertnstert.2017.04.007) Copyright © 2017 Terms and Conditions

Supplemental Figure 1 Sequencing maps of DNAH1 gene mutations in patients with dysplasia of the sperm fibrous sheath. Fertility and Sterility 2017 107, 1312-1318.e2DOI: (10.1016/j.fertnstert.2017.04.007) Copyright © 2017 Terms and Conditions