1. 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.
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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, and Cruciani, Fulvio
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Y chromosome , *HUMAN sex chromosomes , *GENETIC mutation , *SINGLE nucleotide polymorphisms , *PHYLOGENY - 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 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. [ABSTRACT FROM AUTHOR]
- Published
- 2015
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