DMRT1 mutations are rarely associated with male infertility Ann-Christin Tewes, M.Sc., Susanne Ledig, Ph.D., Frank Tüttelmann, M.D., Sabine Kliesch, M.D., Peter Wieacker, M.D.  Fertility and Sterility  Volume 102, Issue 3, Pages 816-820.e3 (September 2014) DOI: 10.1016/j.fertnstert.2014.05.022 Copyright © 2014 American Society for Reproductive Medicine Terms and Conditions

Figure 1 Schematic map of DMRT1 variants in relation to gene's exon/intron structure. Fertility and Sterility 2014 102, 816-820.e3DOI: (10.1016/j.fertnstert.2014.05.022) Copyright © 2014 American Society for Reproductive Medicine Terms and Conditions

Supplemental Figure 1 Splicing prediction results for DMRT1 c.132C>T. Red dashes highlight in the upper part the reference sequence at position c.132 and in the lower part the variant. In blue are marked the 5′ donor sites and in green the 3′ acceptor sites and for non-mutated and mutated sequence on the left-hand site the different 5 algorithms and their score-ranges. Hits from these are displayed as blue vertical bars for 5′ donor sites. The height of each bar is proportional to the maximum possible score computed for each algorithm with score 0.3 for MaxEntScan and 77.3 for human splicing Finder for position c.130. Fertility and Sterility 2014 102, 816-820.e3DOI: (10.1016/j.fertnstert.2014.05.022) Copyright © 2014 American Society for Reproductive Medicine Terms and Conditions

Supplemental Figure 2 ESE (exonic splicing enhancers) predictions for variant c.132C>T. Red dashes highlight in the upper part the reference sequence at position c.132 and in the lower part the variant. It is shown here that c.132C>T completely abolishes the ESE-binding motifs for the splicing factors SF2/ASF (red block) and SRp55 (yellow block), respectively. Other ESE are also changed. Fertility and Sterility 2014 102, 816-820.e3DOI: (10.1016/j.fertnstert.2014.05.022) Copyright © 2014 American Society for Reproductive Medicine Terms and Conditions

Supplemental Figure 3 ESE (exonic splicing enhancers) predictions for variant c.783C>T. Red dashes highlight in the upper part the reference sequence at position c.783 and in the lower part the variant. It is shown here that c.783C>T completely abolishes the ESE-binding motifs for the splicing factors SF2/ASF (red block), but an ESE motif for SRp40 (green block) arises. Fertility and Sterility 2014 102, 816-820.e3DOI: (10.1016/j.fertnstert.2014.05.022) Copyright © 2014 American Society for Reproductive Medicine Terms and Conditions