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 [1,2] and other analyses [3,4,5] appear incompatible with the hypothesis that Neandertals are direct ancestors of modern Europeans [6,7]. 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.