Neanderthal Mitochondrial DNA


Mitochondrial deoxyribonucleic acid (mtDNA) has been important in understanding the evolutionary histories of both modern humans and archaic hominins, especially the Neanderthals. mtDNA to date (2012) has been successfully extracted from 13 specimens recovered from the geographical range of the Neanderthals. Primer extension capture along with next generation sequencing has been used along with standard shotgun sequencing to determine the entire mtDNA genome of six specimens: two from Kleine Feldhofer Grotte in Germany, one from El Sidron cave in Spain, two from Vindija Cave in Croatia and one from Mezmaiskaya Cave in Russia. New mtDNA sequences have enhanced the data available from earlier studies that analysed the hypervariable regions of several specimens. The Neanderthal mtDNA pool is distinct from modern human mtDNA and forms a separate phylogenetic clade; genetic diversity of Neanderthals is estimated to be approximately one‐third of extant modern human populations. In addition to analysis of the mtDNA, next generation sequencing has allowed the first insights into the Neanderthal nuclear genome.

Key Concepts:

  • The mtDNA genomes of six Neanderthals from four countries have been fully sequenced. The hypervariable regions of several other specimens have also been analysed.

  • The Neanderthals form a distinct genetic clade from modern humans; the two lineages diverged approximately 500 000 years before the present.

  • Genetic diversity in the Neanderthal population appears to be considerably reduced in comparison to the modern human populations.

  • Based on the mtDNA analysis, the Eurasian Neanderthal population appeared to be fragmented into subpopulations with separate demographic histories.

  • The likelihood of admixture between Neanderthals and modern humans is so low that either behavioural or biological barriers to interbreeding may have existed.

Keywords: Neanderthal; ancient DNA; PCR; mitochondrial DNA

Figure 1.

(a) DNA sequences of the PCR fragments obtained by direct sequencing (Direct 1 and 2) and cloned PCR products derived from the Neanderthal from Mezmaiskaya Cave. The sequence that could be duplicated in a second laboratory is shown in bold within the compiled Mezmaiskaya sequence. (b) A region of sequenced PCR product (577.2) is shown along with the rCRS, showing the inserted A at position 16 263.1 (between 16 263 and 16 264) and the C to T substitution at position 16 262.

Figure 2.

A schematic phylogenetic tree showing the Neanderthals as a distinct clade from modern humans. Within the Neanderthals there is some evidence that there may be substructure with older and eastern specimens forming one group and more recent western individuals forming a second group (Dalén et al., ).



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Web Links

Neanderthal Museum website .

Smithsonian National Museum of Natural History, the Hall of Human Origins .‐dna‐and‐neanderthals/neanderthal‐mitochondrial‐dna

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Goodwin, William, and Ovchinnikov, Igor(Jan 2013) Neanderthal Mitochondrial DNA. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0005343.pub3]