1. The microcephalin ancestral allele in a Neanderthal individual
- Author
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Ermanno Rizzi, C. Balsamo, Paolo Giunti, Catherine Hänni, Laura Longo, Guido Barbujani, Elena Pilli, Silvana Condemi, Lucio Milani, Stefania Vai, Ludovic Orlando, Martina Lari, David Caramelli, Gianluca De Bellis, Giorgio Corti, Giulio Catalano, Università degli Studi di Firenze [Firenze], Istituto di Tecnologie Biomediche [Segrate] (ITB), Consiglio Nazionale delle Ricerche [Roma] (CNR), Institute for Biomedical Technologies (ITB), UMR 6578 : Adaptabilité Biologique et Culturelle (UAABC), Université de la Méditerranée - Aix-Marseille 2-Centre National de la Recherche Scientifique (CNRS), Dipartimento di Scienze Ambientali, Università degli Studi di Siena (UNISI), Institut de Génomique Fonctionnelle de Lyon (IGFL), École normale supérieure - Lyon (ENS Lyon)-Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Anthropologie Moléculaire et Imagerie de Synthèse (AMIS), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS), Dipartimento di Biologia, Università di Ferrara, Laboratorio di Antropologia, Università degli Studi di Firenze = University of Florence (UniFI), National Research Council of Italy | Consiglio Nazionale delle Ricerche (CNR), UMR 6578 : Anthropologie Bio-Culturelle (UAABC), Università degli Studi di Siena = University of Siena (UNISI), École normale supérieure de Lyon (ENS de Lyon)-Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS), Università degli Studi di Ferrara = University of Ferrara (UniFE), Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Recherche Agronomique (INRA)-École normale supérieure - Lyon (ENS Lyon), and Università degli Studi di Ferrara (UniFE)
- Subjects
Neanderthal ,MICROCEPHALIN ,[SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology ,Cell Cycle Proteins ,Neanderthal genome project ,neanderthal ,Haplogroup ,microcephalin ,mitochondrial DNA ,evolution ,0302 clinical medicine ,Evolutionary Biology/Genomics ,Phylogeny ,Neanderthals ,Genetics ,0303 health sciences ,education.field_of_study ,Multidisciplinary ,biology ,Ancient DNA ,Fossils ,Paleogenetics ,Mitochondrial DNA ,Polymerase chain reaction ,Evolutionary Biology/Human Evolution ,Medicine ,Research Article ,Haplogroup L4a ,Science ,Genetic loci ,Nerve Tissue Proteins ,DNA, Mitochondrial ,03 medical and health sciences ,Paleogenomics ,Neanderthal DNA ,biology.animal ,Paleoanthropology ,Humans ,education ,Alleles ,030304 developmental biology ,Evolutionary Biology ,microcephalin (MCPH1) ,Haplotype ,Sequence Analysis, DNA ,Cytoskeletal Proteins ,Sequence motif analysis ,MODERN HUMAN-DIVERSITY ,X-CHROMOSOME ,LACTASE PERSISTENCE ,BRAIN SIZE ,POPULATION-STRUCTURE ,030217 neurology & neurosurgery - Abstract
BackgroundThe 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.Methodology/principal findingsHere 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/significanceThe 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.
- Published
- 2010