Mitochondrial-DNA Phylogenetic Information and the Reconstruction of Human Population History: The South American Case

POSTILLONE MARÍA BÁRBARA; PEREZ SERGIO IVAN

HUMAN BIOLOGY

WAYNE STATE UNIV PRESS

Lugar: Detroit; Año: 2017 vol. 89 p. 229 - 250

0018-7143

Mitochondrial DNA (mtDNA) sequences are becoming increasingly important in the study of humanpopulation history. Here, we explore the diffferences in the amount of information of diffferent mtDNAregions and their utility for the reconstruction of South American population history. We analyzed sixdata sets comprising 259 mtDNA sequences from South America: Complete mtDNA, Coding, Control,hypervariable region I (HVRI), Control plus cytochrome b (cytb), and cytb plus 12S plus 16S. The amount ofinformation in each data set was estimated employing several site-by-site and haplotype-based statistics,distances among sequences, neighbor-joining trees, distances among the estimated trees, Bayesian skylineplots, and phylogenetic informativeness profijiles. The diffferent mtDNA data sets have diffferent amountsof information to reconstruct demographic events and phylogenetic trees with confijidence. WhereasHVRI is not suitable for phylogenetic reconstruction of ancient clades, this region, as well as the Controldata set, displays information for the demographic reconstruction during the Holocene period, probablybecause of the high rate of mutation of these regions. As expected, the Complete mtDNA and Codingdata sets, displaying slower rates of mutation, present suitable information to estimate the foundingsubhaplogroups that populated South America and for the reconstruction of ancient demographic events.Our results point out the importance of evaluating the utility of diffferent DNA regions to respond todiffferent questions and problems in the human population studies, mainly considering the time scaleof the phenomenon and the informativeness of the molecular region in a particular geographical area.