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Phylogeographic Refinement and Large Scale Genotyping of Human Y Chromosome Haplogroup E Provide New Insights into the Dispersal of Early Pastoralists in the African Continent

Haplogroup E, defined by mutation M40, is the most common human Y chromosome clade within Africa. To increase the level of resolution of haplogroup E, we disclosed the phylogenetic relationships among 729 mutations found in 33 haplogroup DE Y-chromosomes sequenced at high coverage in previous studie...

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Autores principales: Trombetta, Beniamino, D’Atanasio, Eugenia, Massaia, Andrea, Ippoliti, Marco, Coppa, Alfredo, Candilio, Francesca, Coia, Valentina, Russo, Gianluca, Dugoujon, Jean-Michel, Moral, Pedro, Akar, Nejat, Sellitto, Daniele, Valesini, Guido, Novelletto, Andrea, Scozzari, Rosaria, Cruciani, Fulvio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4524485/
https://www.ncbi.nlm.nih.gov/pubmed/26108492
http://dx.doi.org/10.1093/gbe/evv118
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author Trombetta, Beniamino
D’Atanasio, Eugenia
Massaia, Andrea
Ippoliti, Marco
Coppa, Alfredo
Candilio, Francesca
Coia, Valentina
Russo, Gianluca
Dugoujon, Jean-Michel
Moral, Pedro
Akar, Nejat
Sellitto, Daniele
Valesini, Guido
Novelletto, Andrea
Scozzari, Rosaria
Cruciani, Fulvio
author_facet Trombetta, Beniamino
D’Atanasio, Eugenia
Massaia, Andrea
Ippoliti, Marco
Coppa, Alfredo
Candilio, Francesca
Coia, Valentina
Russo, Gianluca
Dugoujon, Jean-Michel
Moral, Pedro
Akar, Nejat
Sellitto, Daniele
Valesini, Guido
Novelletto, Andrea
Scozzari, Rosaria
Cruciani, Fulvio
author_sort Trombetta, Beniamino
collection PubMed
description Haplogroup E, defined by mutation M40, is the most common human Y chromosome clade within Africa. To increase the level of resolution of haplogroup E, we disclosed the phylogenetic relationships among 729 mutations found in 33 haplogroup DE Y-chromosomes sequenced at high coverage in previous studies. Additionally, we dissected the E-M35 subclade by genotyping 62 informative markers in 5,222 samples from 118 worldwide populations. The phylogeny of haplogroup E showed novel features compared with the previous topology, including a new basal dichotomy. Within haplogroup E-M35, we resolved all the previously known polytomies and assigned all the E-M35* chromosomes to five new different clades, all belonging to a newly identified subhaplogroup (E-V1515), which accounts for almost half of the E-M35 chromosomes from the Horn of Africa. Moreover, using a Bayesian phylogeographic analysis and a single nucleotide polymorphism-based approach we localized and dated the origin of this new lineage in the northern part of the Horn, about 12 ka. Time frames, phylogenetic structuring, and sociogeographic distribution of E-V1515 and its subclades are consistent with a multistep demic spread of pastoralism within north-eastern Africa and its subsequent diffusion to subequatorial areas. In addition, our results increase the discriminative power of the E-M35 haplogroup for use in forensic genetics through the identification of new ancestry-informative markers.
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spelling pubmed-45244852015-08-07 Phylogeographic Refinement and Large Scale Genotyping of Human Y Chromosome Haplogroup E Provide New Insights into the Dispersal of Early Pastoralists in the African Continent Trombetta, Beniamino D’Atanasio, Eugenia Massaia, Andrea Ippoliti, Marco Coppa, Alfredo Candilio, Francesca Coia, Valentina Russo, Gianluca Dugoujon, Jean-Michel Moral, Pedro Akar, Nejat Sellitto, Daniele Valesini, Guido Novelletto, Andrea Scozzari, Rosaria Cruciani, Fulvio Genome Biol Evol Research Article Haplogroup E, defined by mutation M40, is the most common human Y chromosome clade within Africa. To increase the level of resolution of haplogroup E, we disclosed the phylogenetic relationships among 729 mutations found in 33 haplogroup DE Y-chromosomes sequenced at high coverage in previous studies. Additionally, we dissected the E-M35 subclade by genotyping 62 informative markers in 5,222 samples from 118 worldwide populations. The phylogeny of haplogroup E showed novel features compared with the previous topology, including a new basal dichotomy. Within haplogroup E-M35, we resolved all the previously known polytomies and assigned all the E-M35* chromosomes to five new different clades, all belonging to a newly identified subhaplogroup (E-V1515), which accounts for almost half of the E-M35 chromosomes from the Horn of Africa. Moreover, using a Bayesian phylogeographic analysis and a single nucleotide polymorphism-based approach we localized and dated the origin of this new lineage in the northern part of the Horn, about 12 ka. Time frames, phylogenetic structuring, and sociogeographic distribution of E-V1515 and its subclades are consistent with a multistep demic spread of pastoralism within north-eastern Africa and its subsequent diffusion to subequatorial areas. In addition, our results increase the discriminative power of the E-M35 haplogroup for use in forensic genetics through the identification of new ancestry-informative markers. Oxford University Press 2015-06-24 /pmc/articles/PMC4524485/ /pubmed/26108492 http://dx.doi.org/10.1093/gbe/evv118 Text en © The Author(s) 2015. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Trombetta, Beniamino
D’Atanasio, Eugenia
Massaia, Andrea
Ippoliti, Marco
Coppa, Alfredo
Candilio, Francesca
Coia, Valentina
Russo, Gianluca
Dugoujon, Jean-Michel
Moral, Pedro
Akar, Nejat
Sellitto, Daniele
Valesini, Guido
Novelletto, Andrea
Scozzari, Rosaria
Cruciani, Fulvio
Phylogeographic Refinement and Large Scale Genotyping of Human Y Chromosome Haplogroup E Provide New Insights into the Dispersal of Early Pastoralists in the African Continent
title Phylogeographic Refinement and Large Scale Genotyping of Human Y Chromosome Haplogroup E Provide New Insights into the Dispersal of Early Pastoralists in the African Continent
title_full Phylogeographic Refinement and Large Scale Genotyping of Human Y Chromosome Haplogroup E Provide New Insights into the Dispersal of Early Pastoralists in the African Continent
title_fullStr Phylogeographic Refinement and Large Scale Genotyping of Human Y Chromosome Haplogroup E Provide New Insights into the Dispersal of Early Pastoralists in the African Continent
title_full_unstemmed Phylogeographic Refinement and Large Scale Genotyping of Human Y Chromosome Haplogroup E Provide New Insights into the Dispersal of Early Pastoralists in the African Continent
title_short Phylogeographic Refinement and Large Scale Genotyping of Human Y Chromosome Haplogroup E Provide New Insights into the Dispersal of Early Pastoralists in the African Continent
title_sort phylogeographic refinement and large scale genotyping of human y chromosome haplogroup e provide new insights into the dispersal of early pastoralists in the african continent
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4524485/
https://www.ncbi.nlm.nih.gov/pubmed/26108492
http://dx.doi.org/10.1093/gbe/evv118
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