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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
Authors: 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
Keywords: Human Y chromosome
African prehistory
MSY phylogeny
dispersal of early pastoralists
next generation sequencing
SNP-based dating
Issue Date: Jul-2015
Source: Trombetta, B., D’Atanasio, E., Massaia, A., Ippoliti, M., Coppa, A., Candilio, F., ... & Akar, N. (2015). 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. Genome biology and evolution, 7(7), 1940-1950.
Abstract: 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 12ka. 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.
ISSN: 1759-6653
Appears in Collections:Dahili Tıp Bilimleri Bölümü / Department of Internal Medical Sciences
PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection

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