mtDNA hypervariable region II (HVII) sequences in human evolution studies

Variation in human mitochondrial DNA (mtDNA) has been used to infer the ori gin and migration patterns in human populations, mtDNA analysis has been fo cused mainly on the first hypervariable region (HVI). Nevertheless, althoug h many studies of the second hypervariable region (HVII) have been carried out during recent years, the correlation between the first and the second h ypervariable regions has not been well established. We have analysed 71 ind ividuals from a relatively isolated region at the westernmost edge of conti nental Europe (Galicia, NW Iberian peninsula) and we have used available HV II sequence information from another 17 European and African populations. T he results show high concordance between the two hypervariable regions, not only in variability levels but also in other phylogenetic aspects. The stu dy of the population structure through an AMOVA analysis shows a low level of heterogeneity in the European populations. Nevertheless, we have found s ome inconsistency in the results, which are related to the mutation rate in these two hypervariable regions. These results are compatible with a high heterogeneity of mutation rates across the HVII region and stress the inter est of HVII in population and forensic genetics.