Partial deletion of the mitochondrial control region
The Genographic Project has been curating a growing database of human mitochondrial genome sequences, of which over 120,000 have been acquired through their public participation programme. Among these genomes, CitationBehar et al. report a 154-base-pair deletion in the control region of an anonymous Japanese woman (haplogroup A1a). The authors confirm the presence of the deletion using a variety of methods, including repetition of the amplification and sequencing procedure using multiple primer pairs.
The deletion is also present in the woman's two sons and does not appear to have a detrimental health impact, although the authors were unable to exclude the possibility of an unknown or slightly deleterious effect on fitness. Nevertheless, it is interesting that the mitochondrial genome is still able to replicate and function despite the loss of more than 10% of the control region. CitationBehar et al. conclude their report by discussing the implications of the deletion for our understanding of the mitochondrial replication mechanism.