Figure 5

Visualization of a cis- regulatory mutation creating a functional SPI1 binding site in the promoter of ALOX15. In this example, the variant occurs near the transcription start site (TSS; topology filter), there is slight evidence that the site of the variant is conserved against mutations, and the variant is found in dbSNP; thus, it is unlikely to be a technical error. (a) Variant location. (b) Logo of nucleotide binding preferences for SPI1. The altered position of the ALOX15 sequence relative to a SPI1 binding site is highlighted. The mutation converts the nucleotide at that position from a cysteine to the most strongly conserved nucleotide in all SPI1 binding sites - a thymine. (c) UCSC Genome Browser view as in Figure 4.