Fig. 1

Location and 5-HT transport activity of autism-associated SERT coding variants. A) Autism-associated variants are overlayed on a 12 TM model of a single SERT subunit, with NH2 and COOH termini oriented inside the cell. Variants in extramembrane domains are shaded black whereas those in membrane domains are shaded white. B) Altered activity of SERT variants is evident in native lymphocytes. Lymphocytes were genotyped and cultured and assessed for 5-HT uptake. Data presented derive from n = 3 individual assays on lymphocyte lines of determined genotype. Findings were replicated in a separate set of pre-genotyped samples with equivalent results. Transport activities were analyzed by a One-Way ANOVA with post-hoc Dunnett’s tests, with p < 0.05(*) taken as significant. C) 5-HT transport activity of autism-associated SERT coding variants in transfected HeLa cells. All variants were transfected in parallel with reference hSERT cDNA into HeLa cells and assayed for 5-HT transport activity. Data reflect mean values ± SEM of 3 separate experiments. Means were compared to hSERT cDNA using a One-Way ANOVA followed by Dunnett’s test of individual means against hSERT values with p < 0.05(*) taken as significant. Figure reproduced from authors’ prior work [79]