FIGURE 2:

Transcript variants at the 5′ end of SNCA and genomic context of rs356182. (A) Figure zooming in on the 5′ end of the SNCA gene, showing variable 5′ untranslated region (UTR) corresponding to the 3 individual RefSeq transcript variants investigated in expression quantitative trait locus analysis. Translation starts at the ATG codon 26 base pairs into exon 2. (B) Illustration showing the chromosomal location of rs356182 downstream of SNCA. Note the 3′ end of the SNCA gene at top right. The variant is located within a putative brain-specific regulatory element identified by H3K27Ac chromatin immunoprecipitation sequencing in human brain, showing no similar signal in 7 cell lines (Layered H3K27Ac) from ENCODE. Furthermore, rs356182 falls within an open chromatin region differentially accessible across neuronal and nonneuronal cells, and overlaps a conserved predicted transcription factor binding site (TFBS) from the Transfac database. [Color figure can be viewed at www.annalsofneurology.org]