A highly divergent mtDNA sequence in a Neandertal individual from Italy

Neandertals are documented in Europe and Western Asia from about 230,000 to 29,000 years ago. Analyses of mitochondrial DNA (mtDNA) from Neandertal samples and other analyses appear incompatible withthe hypothesis that Neandertals are direct ancestors of modern Europeans. However, there are broad geographic gaps in the sampling of Neandertal DNA diversity. Here, we describe the sequence of the first mitochondrial hypervariable region(HVR1) in a new specimen from Monti Lessini (MLS) in Northern Italy. This sequence contains several previously unidentified nucleotide substitutions and comparison to five other complete HVR1 sequences reveals a previously undetected amount of genetic variation among Neandertals. The MLS sequence documents a greater diversity among the European Neandertals than previously estimated. In particular, the analysis of Neandertal genetic diversity confirms that Neandertals were separated from modern humans by several fixed mtDNA differences. However, their internal diversity was rather large. Even members of the same population, such as FE1 and FE2, could differ substantially, and haplotypes in geographically extreme populations also seem to be genetically differentiated. This raises questions concerning the demographic and evolutionary history of Neandertals.