Figure 4

WT and NV isoforms of TSFM and their expression with genotype. A. Showing exons 2–3 of the RefSeq transcript (there are four RefSeq isoforms for TSFM, however, they are identical over this region of the gene) and the novel TSFM transcript (TSFM NV), which has an alternate 38 bp exon included between introns 2 and 3. The star shows the relative position of rs2014886 (introducing an intronic donor splice site within intron 2. B. Chart showing the expression of the novel transcript TSFM NV by genotype. Homozygotes for the major allele show negligible expression of the novel transcript. Expression is normalised to the endogenous control RPLPO, and is shown relative to the expression of TSFM NV in heterozygotes. Statistical significance is indicated by an asterix.