Discerning the “identical”: unexpected mitogenome diversity behind the most common European mtDNA control region (D-loop) haplotype

Bodner,M.; Strobl,C.; Nagl,S.; Xavier,C.; Huber,G.; Cardinali,I.; Lancioni,H.; Semino,O.; Olivieri,A.; Gandini,F.; Achilli,A.; Torroni,A.; Parson,W.

The circular human mtDNA molecule, due to its specific From the 80 samples currently analyzed in this ongoing characteristics as maternally inherited lineage marker present project, 17 revealed additional CR polymorphism outside in a high copy number and stable against degradation, is a HVS-I and II and were thus excluded. Complete mito- vital tool in forensic and population genetics. The utility of this genome sequencing revealed 57 different haplotypes marker depends on the variation present in a population. The (thereof 52 unique) in the 63 remaining samples considered output of investigations is often restricted, as most data only identical from CR (including those previously published [6]). include (partial) sequence information from the non-coding ~1.1 kbp control region (CR) that displays highly condensed variation. However, many mtDNA lineages are poorly defined in CR with identical nucleotide variants observed on different haplogroup backgrounds across the mtDNA phylogeny.