RT Journal Article
T1 The Phylogeny of the Four Pan-American MtDNA Haplogroups: Implications for Evolutionary and Disease Studies
A1 Achilli, Alessandro
A1 Perego, Ugo A.
A1 Bravi, Claudio M.
A1 Coble, Michael D.
A1 Kong, Qing-Peng
A1 Woodward, Scott R.
A1 Salas Ellacuriaga, Antonio
A1 Torroni, Antonio
A1 Bandelt, Hans-Jürgen
AB Only a limited number of complete mitochondrial genome sequences belonging to Native American haplogroups wereavailable until recently, which left America as the continent with the least amount of information about sequence variationof entire mitochondrial DNAs. In this study, a comprehensive overview of all available complete mitochondrial DNA(mtDNA) genomes of the four pan-American haplogroups A2, B2, C1, and D1 is provided by revising the informationscattered throughout GenBank and the literature, and adding 14 novel mtDNA sequences. The phylogenies of haplogroupsA2, B2, C1, and D1 reveal a large number of sub-haplogroups but suggest that the ancestral Beringian population(s)contributed only six (successful) founder haplotypes to these haplogroups. The derived clades are overall starlike withcoalescence times ranging from 18,000 to 21,000 years (with one exception) using the conventional calibration. The averageof about 19,000 years somewhat contrasts with the corresponding lower age of about 13,500 years that was recentlyproposed by employing a different calibration and estimation approach. Our estimate indicates a human entry and spreadof the pan-American haplogroups into the Americas right after the peak of the Last Glacial Maximum and comfortablyagrees with the undisputed ages of the earliest Paleoindians in South America. In addition, the phylogenetic approach alsoindicates that the pathogenic status proposed for various mtDNA mutations, which actually define branches of NativeAmerican haplogroups, was based on insufficient grounds.
PB Plos
YR 2008
FD 2008
LK http://hdl.handle.net/10347/22773
UL http://hdl.handle.net/10347/22773
LA eng
NO Achilli A, Perego UA, Bravi CM, Coble MD, Kong Q-P, Woodward SR, et al. (2008) The Phylogeny of the Four Pan-American MtDNA Haplogroups: Implications for Evolutionary and Disease Studies. PLoS ONE 3(3): e1764. https://doi.org/10.1371/journal.pone.0001764
NO This research received support from Progetti Ricerca Interesse Nazionale 2005 (Italian Ministry of the University) (to AT) and Fondazione Cariplo (to AT)
DS Minerva
RD 29 abr 2026