Comparisons of ape and human sequences that regulate mitochondrial DNA transcription and D-loop DNA synthesis.

The mitochondrial DNA (mtDNA) control regions for common chimpanzee, pygmy chimpanzee and gorilla were sequenced and the lengths and termini of their D-loop DNA's characterized. In these and all other species for which there are data, 5' termini map to sequences that contain the trinucleotide YAY. 3' termini are 25-51 nucleotides downstream from a sequence that is moderately conserved among vertebrates. Substitutions were greater than 1.5 times more frequent in the control region than in regions encoding structural genes. Additions and deletions were also frequent, especially in gorilla. Sequences of promoters and of two of four transcription factor binding sites were highly conserved. Comparisons of sequence similarity and transition/transversion ratios suggest that human and chimpanzees may be more closely related to each other than either is to gorilla, if substitution rates are approximately equal among these species.