FIGURE LEGENDS
Figure 1. Three heterozygous mutations in SLC26A8 were
identified in three infertile patients. Pedigrees of three families
with heterozygous variants in SLC26A8 . The c.1570_1571del
mutation was exhibited by the dotted triangle in family A. The
c.2191G>A mutation was exhibited by the dotted box in
family B. The c.306del mutation was exhibited by the dotted triangle in
family C.
Figure 2. The teratozoospermia phenotype of the three patients.(a) The Concentrations Papanicolaou staining of sperm in the three
patients and normal control. The sperm malformation of pyriform heads,
round-heads, and coiled-tail were observed in the three patients. (b)
Detailed defects in sperm head and flagella were observed in the
patients by SEM (scale bars, 5
µm). (c) The anomaly head and
flagellum as well as abnormal organized mitochondria of sperm from the
three individuals, compared with the normal control by TEM. (scale bars,
100 nm). ODF: outer dense fiber; OD: peripheral microtubule doublets;
CP: central microtubules.
Figure 3. The expression analysis of the three heterozygousSLC26A8 mutations in transfected cells and sperm from the
patients. (a) The western blotting analysis of SLC26A8 expression in
cells transfected with plasmids carrying variants of p.A524*, p.V731I,
and p.G103Afs*9. (b) The SLC26A8 levels in sperm lysates of patients and
control. The SLC26A8 protein was present in the three individuals and
normal control without distinction. (c) The immunofluorescence results
showed no significant difference in the SLC26A8 expression of the sperm
between three individuals and normal control.
Figure 4. The expression of SLC26A8 in human and mouse testes.(a) Representative images of testicular tubules in a mouse showing that
SLC26A8 is principally localized to the cytoplasm of different stages of
spermatids (scale bar, 5 μm; red, SLC26A8; blue, DAPI). (b) SLC26A8 was
detected in the nucleus and cytoplasm of germ cells at different stages
(scale bar, 5 μm; red, SLC26A8; blue, DAPI). (c) Immunofluorescence
staining indicated that SLC26A8 was primarily expressed in the head and
cilia in human spermatogenic cells (scale bar, 5 μm; red, PNA; green,
SLC26A8; blue, DAPI).
Table 1. Semen and variant analysis in the three patients
harboring heterozygous SLC26A8 mutations.