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The microcephalin ancestral allele in a Neanderthal individual
- Source :
- PLoS ONE, PLoS ONE, Public Library of Science, 2010, 5 (5), pp.e10648. ⟨10.1371/journal.pone.0010648⟩, PLoS ONE, Vol 5, Iss 5, p e10648 (2010), PLoS ONE, 2010, 5 (5), pp.e10648. ⟨10.1371/journal.pone.0010648⟩, PloS one 5 (2010). doi:10.1371/journal.pone.0010648, info:cnr-pdr/source/autori:Martina Lari 1; Ermanno Rizzi 2; Lucio Milani 1; Giorgio Corti 2; Carlotta Balsamo 1; Stefania Vai 1; Giulio Catalano 1; Elena Pilli 1; Laura Longo 3,4; Silvana Condemi 5; Paolo Giunti 4; Catherine Hanni 6; Gianluca De Bellis 2; Ludovic Orlando 6; Guido Barbujani 7; David Caramelli 1/titolo:The Microcephalin Ancestral Allele in a Neanderthal Individual/doi:10.1371%2Fjournal.pone.0010648/rivista:PloS one/anno:2010/pagina_da:/pagina_a:/intervallo_pagine:/volume:5
- Publication Year :
- 2010
-
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.
- 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
Subjects
Details
- ISSN :
- 19326203
- Database :
- OpenAIRE
- Journal :
- PLoS ONE, PLoS ONE, Public Library of Science, 2010, 5 (5), pp.e10648. ⟨10.1371/journal.pone.0010648⟩, PLoS ONE, Vol 5, Iss 5, p e10648 (2010), PLoS ONE, 2010, 5 (5), pp.e10648. ⟨10.1371/journal.pone.0010648⟩, PloS one 5 (2010). doi:10.1371/journal.pone.0010648, info:cnr-pdr/source/autori:Martina Lari 1; Ermanno Rizzi 2; Lucio Milani 1; Giorgio Corti 2; Carlotta Balsamo 1; Stefania Vai 1; Giulio Catalano 1; Elena Pilli 1; Laura Longo 3,4; Silvana Condemi 5; Paolo Giunti 4; Catherine Hanni 6; Gianluca De Bellis 2; Ludovic Orlando 6; Guido Barbujani 7; David Caramelli 1/titolo:The Microcephalin Ancestral Allele in a Neanderthal Individual/doi:10.1371%2Fjournal.pone.0010648/rivista:PloS one/anno:2010/pagina_da:/pagina_a:/intervallo_pagine:/volume:5
- Accession number :
- edsair.doi.dedup.....e951de2768df87ea7629213a6854278c