Extended Data Fig. 7: Measuring constraint across non-coding elements.
From: Quantifying constraint in the human mitochondrial genome
Top schematic shows annotated elements within the non-coding control region, which spans the artificial chromosome break (m.16569-1). The top row includes the three hypervariable sequences (HV1, HV2, HV3), the second row includes termination-associated sequences (TAS, TAS2), conserved sequence blocks (CSB1, CSB2, CSB3) and L-strand and H-strand promoters (LSP, HSP1), and the third row includes a control element (MT-5) and transcription factor binding sites (TFX, TFY, TFL, TFH). The observed:expected ratio 90% confidence interval upper fraction (OEUF) within each element is shown per the color gradient legend; darker colors represent lower OEUF. Values are provided in Supplementary Dataset 5. The bottom schematic shows the position of the control region and origin for replication of the light strand (OriL) within the mtDNA, with encoded loci colored by their type (non-coding in yellow, protein blue, rRNA purple and tRNA orange).
