Figure 3. Multiple Sequence Alignment of the RMRP Promoter Region.

The sequence alignment of the RMRP promoter region of nine mammalian species (from nucleotide g.−80 to the transcription initiation site of the human sequence) is shown. Polymorphisms and rare variants are indicated as blue boxes (single nucleotide changes); red arrows indicate pathogenic insertions, and red lines indicate pathogenic duplications and triplications. Conservation of nucleotides was analyzed for the single nucleotide substitutions (putative polymorphisms) included in the alignment interval (from g.−80 to g.−1). Positions were considered as conserved if eight out of nine species had the same nucleotide.