Neandertal mtDNA from a late pleistocene human mandible from the Cova del Gegant (Spain)

© Springer Science+Business Media B.V. 2011. Over the last decade, D-loop fragments of mtDNA of varying lengths have been published from 12 Neandertal specimens. The fossils have been recovered from geographically diverse sites, ranging from the Caucasian mountains to the Iberian Peninsula. In the sequences from these fossils, some mutations, present even in the shortest fragments, characterize all published Neandertal sequences to date and are absent or very rare in Homo sapiens. Here we use some of these diagnostic genetic substitutions to support our recent morphological assessment of the Cova del Gegant mandible as representing a Neandertal. The short sequence obtained (52 bp) contains substitutions common to all Neandertals. To further verify the Neandertal nature of the Cova del Gegant sequence, it was compared with the 232 most similar H. sapiens sequences from the GenBank. NJ bootstrap ­values as well as Bayesian posterior probability for the sequence from Cova del Gegant clearly place it with other Neandertals. The variation within the fragment does not show any geographical structure, but there is one substitution (16243) that may covary with age to some degree. We conclude that the recovery of this short mtDNA fragment can be used as a diagnostic tool for taxonomic classification in European Upper Pleistocene fossil human specimens.