The Microcephalin Ancestral Allele in a Neanderthal Individual
Martina Lari
(1)
,
Ermanno Rizzi
(2)
,
Lucio Milani
(1)
,
Giorgio Corti
(3)
,
Carlotta Balsamo
(1)
,
Stefania Vai
(1)
,
Giulio Catalano
(4)
,
Elena Pilli
(1)
,
Laura Longo
(5)
,
Silvana Condemi
(4)
,
Paolo Giunti
(5)
,
Catherine Haenni
(6)
,
Gianluca de Bellis
(2)
,
Ludovic Orlando
(7)
,
Guido Barbujani
(8)
,
David Caramelli
(9)
1
UniFI -
Università degli Studi di Firenze = University of Florence = Université de Florence
2 ITB - Istituto di Tecnologie Biomediche [Segrate]
3 ITB - Institute for Biomedical Technologies
4 UAABC - Anthropologie Bio-Culturelle
5 Dipartimento di Scienze Ambientali
6 IGFL - Institut de Génomique Fonctionnelle de Lyon
7 AMIS - Anthropologie Moléculaire et Imagerie de Synthèse
8 Dipartimento di Biologia
9 Laboratorio di Antropologia
2 ITB - Istituto di Tecnologie Biomediche [Segrate]
3 ITB - Institute for Biomedical Technologies
4 UAABC - Anthropologie Bio-Culturelle
5 Dipartimento di Scienze Ambientali
6 IGFL - Institut de Génomique Fonctionnelle de Lyon
7 AMIS - Anthropologie Moléculaire et Imagerie de Synthèse
8 Dipartimento di Biologia
9 Laboratorio di Antropologia
Silvana Condemi
- Fonction : Auteur
- PersonId : 750422
- IdHAL : silvana-condemi
- ORCID : 0000-0002-6516-0879
- IdRef : 030687802
Catherine Haenni
- Fonction : Auteur
- PersonId : 6960
- IdHAL : catherine-hanni
- IdRef : 080107273
Ludovic Orlando
- Fonction : Auteur
- PersonId : 1083415
- IdHAL : ludovicorlando
Guido Barbujani
- Fonction : Auteur
- PersonId : 758092
- ORCID : 0000-0001-7854-6669
- IdRef : 074613006
Résumé
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 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/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.
Domaines
Anthropologie biologiqueFormat du dépôt | Fichier |
---|---|
Type de dépôt | Article dans une revue |
Titre |
en
The Microcephalin Ancestral Allele in a Neanderthal Individual
|
Résumé |
en
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 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/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.
|
Auteur(s) |
Martina Lari
1
, Ermanno Rizzi
2
, Lucio Milani
1
, Giorgio Corti
3
, Carlotta Balsamo
1
, Stefania Vai
1
, Giulio Catalano
4
, Elena Pilli
1
, Laura Longo
5
, Silvana Condemi
4
, Paolo Giunti
5
, Catherine Haenni
6
, Gianluca de Bellis
2
, Ludovic Orlando
7
, Guido Barbujani
8
, David Caramelli
9
1
UniFI -
Università degli Studi di Firenze = University of Florence = Université de Florence
( 148408 )
- Piazza di San Marco, 4, 50121 Firenze FI, Italie
- Italie
2
ITB -
Istituto di Tecnologie Biomediche [Segrate]
( 23987 )
- Via Fratelli Cervi, 93 20090 Segrate (MI)
- Italie
3
ITB -
Institute for Biomedical Technologies
( 23985 )
- Via Fratelli Cervi, 93 20090 Segrate (MI)
- Italie
4
UAABC -
Anthropologie Bio-Culturelle
( 942 )
- Faculté de Médecine - Secteur Nord Batiment A - CS80011 Bd Pierre Dramard 13344 MARSEILLE Cedex 15 FRANCE
- France
5
Dipartimento di Scienze Ambientali
( 68867 )
- Università di Siena, Siena
- Italie
6
IGFL -
Institut de Génomique Fonctionnelle de Lyon
( 39280 )
- Ecole Normale Supérieure de Lyon 46 allée d'Italie 69364 Lyon CEDEX07
- France
7
AMIS -
Anthropologie Moléculaire et Imagerie de Synthèse
( 445683 )
- 37 Allées Jules Guesde
31073 Toulouse
- France
8
Dipartimento di Biologia
( 58530 )
- Via Borsari 46, I-44100 Ferrara
- Italie
9
Laboratorio di Antropologia
( 58515 )
- Dipartimento di Biologia Animale e Genetica Via del Proconsolo, 12-50122 Firenze
- Italie
|
Licence |
Paternité
|
Langue du document |
Français
|
Date de production/écriture |
2010
|
Nom de la revue |
|
Vulgarisation |
Non
|
Comité de lecture |
Oui
|
Audience |
Non spécifiée
|
Date de publication |
2010
|
Volume |
5
|
Numéro |
5
|
Page/Identifiant |
e10648
|
Domaine(s) |
|
Mots-clés |
en
microcephalin (MCPH1), neanderthal, Neanderthals, Paleoanthropology, Ancient DNA, Mitochondrial DNA, Paleogenetics, Polymerase chain reaction, Genetic loci, Sequence motif analysis
|
DOI | 10.1371/journal.pone.0010648 |
Origine :
Publication financée par une institution
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