title: The microcephalin ancestral allele in a Neanderthal individual.
abstract: BACKGROUND
  The high frequency (around 0.70 worldwide) 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.
  
  
  RESULTS
  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 homozygous 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 DNA contamination.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Dipartimento di Biologia Evoluzionistica, Laboratori di Antropologia, Università di Firenze, Firenze, Italy.
authors.forename: Martina
authors.initials: M
authors.lastname: Lari
authors.forename: Ermanno
authors.initials: E
authors.lastname: Rizzi
authors.forename: Lucio
authors.initials: L
authors.lastname: Milani
authors.forename: Giorgio
authors.initials: G
authors.lastname: Corti
authors.forename: Carlotta
authors.initials: C
authors.lastname: Balsamo
authors.forename: Stefania
authors.initials: S
authors.lastname: Vai
authors.forename: Giulio
authors.initials: G
authors.lastname: Catalano
authors.forename: Elena
authors.initials: E
authors.lastname: Pilli
authors.forename: Laura
authors.initials: L
authors.lastname: Longo
authors.forename: Silvana
authors.initials: S
authors.lastname: Condemi
authors.forename: Paolo
authors.initials: P
authors.lastname: Giunti
authors.forename: Catherine
authors.initials: C
authors.lastname: Hänni
authors.forename: Gianluca
authors.initials: G
authors.lastname: De Bellis
authors.forename: Ludovic
authors.initials: L
authors.lastname: Orlando
authors.forename: Guido
authors.initials: G
authors.lastname: Barbujani
authors.forename: David
authors.initials: D
authors.lastname: Caramelli
mesh_terms: D000483:Alleles; D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins; D004272:DNA, Mitochondrial / Q000235:genetics; D005580:Fossils; D056426:Genetic Loci / Q000235:genetics; D006801:Humans; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010802:Phylogeny; D017422:Sequence Analysis, DNA
chemical_list: D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins; D004272:DNA, Mitochondrial; C460645:MCPH1 protein, human; D009419:Nerve Tissue Proteins