The microcephalin ancestral allele in a neanderthal individual

Martina Lari, Ermanno Rizzi, Lucio Milani, Giorgio Corti, Carlotta Balsamo, Stefania Vai, Giulio Catalano, Elena Pilli, Laura Longo, Silvana Condemi, Paolo Giunti, Catherine Hänni, Gianluca de Bellis, Ludovic Orlando, Guido Barbujani, David Caramelli

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Abstract

Background: The high frequency (around 0.70 worlwide) and the relatively young age (between 14,000 and 62,000 years) of a derived group of haplotypes, haplogroup D, at the microcephalin (MCPH1) locus led to the proposal that haplogroup D originated in a human lineage that separated from modern humans>1 million years ago, evolved under strong positive selection, and passed into the human gene pool by an episode of admixture circa 37,000 years ago. The geographic distribution of haplogroup D, with marked differences between Africa and Eurasia, suggested that the archaic human form admixing with anatomically modern humans might have been Neanderthal. Methodology/Principal Findings: Here we report the first PCR amplification and high- throughput sequencing of nuclear DNA at the microcephalin (MCPH1) locus from Neanderthal individual from Mezzena Rockshelter (Monti Lessini, Italy). We show that a well-preserved Neanderthal fossil dated at approximately 50,000 years B.P., was omozygous for the ancestral, non-D, allele. The high yield of Neanderthal mtDNA sequences of the studied specimen, the pattern of nucleotide misincorporation among sequences consistent with post-mortem DNA damage and an accurate control of the MCPH1 alleles in all personnel that manipulated the sample, make it extremely unlikely that this result might reflect modern NA contamination. Conclusions/Significance: The MCPH1 genotype of the Monti Lessini (MLS) Neanderthal does not prove that there was no interbreeding between anatomically archaic and modern humans in Europe, but certainly shows that speculations on a possible Neanderthal origin of what is now the most common MCPH1 haplogroup are not supported by empirical evidence from ancient DNA.

Original languageEnglish
Article numbere10648
JournalPLoS One
Volume5
Issue number5
DOIs
Publication statusPublished - 2010

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ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

Cite this

Lari, M., Rizzi, E., Milani, L., Corti, G., Balsamo, C., Vai, S., Catalano, G., Pilli, E., Longo, L., Condemi, S., Giunti, P., Hänni, C., de Bellis, G., Orlando, L., Barbujani, G., & Caramelli, D. (2010). The microcephalin ancestral allele in a neanderthal individual. PLoS One, 5(5), [e10648]. https://doi.org/10.1371/journal.pone.0010648