Fig. 1.

Identification of rs35033974 variant in TEX101 gene. (A) Schematic representation of TEX101 gene and protein sequence, showing the missense variant c.296 G>T, and the amino acid substitution p.99 G>V. (B) TEX101 DNA sequencing of WT TEX101 patient (left panel), rs35033974 heterozygous patient (middle panel) and rs35033974^hh homozygous patient (right panel). (C) Scatter plot of sperm concentration and TEX101 levels in seminal plasma of 189 subfertile men (diagnosed with unexplained infertility or oligospermia) of European origin. WT, rs35033974 heterozygous and rs35033974^hh men are plotted in gray, green, and red, respectively. Sperm concentration (15 million/ml) and TEX101 (65 ng/ml) cut-off values are indicated by dotted lines in black. Variant rs35033974 allele frequency is higher for the groups with TEX101 < 65 ng/ml (58.3% for upper left group and 21% for lower left group), and lower for the groups with TEX101 ≥ 65 ng/ml (9.8% for lower right group and 8.7% for upper right group). (D) Seminal plasma levels of TEX101 normalized by sperm concentration were significantly lower (fold change 4.0, MWU p = 0.0005) for G99V heterozygous European men (median 390 ng/ml, n = 40), as compared with WT men (median 1,949 ng/ml, n = 145). Horizontal lines represent median values for each group.