RT Journal Article T1 New Insights into the Lake Chad Basin Population Structure Revealed by High-Throughput Genotyping of Mitochondrial DNA Coding SNPs A1 Cerezo Fernández, María A1 Černý, Viktor A1 Carracedo Álvarez, Ángel A1 Salas Ellacuriaga, Antonio K1 Chad K1 Phylogeography K1 Mitochondrial DNA K1 Arabic people K1 Phylogenetics K1 Population genetics K1 Species diversity K1 Lakes AB BackgroundLocated in the Sudan belt, the Chad Basin forms a remarkable ecosystem, where several unique agricultural and pastoral techniques have been developed. Both from an archaeological and a genetic point of view, this region has been interpreted to be the center of a bidirectional corridor connecting West and East Africa, as well as a meeting point for populations coming from North Africa through the Saharan desert.Methodology/Principal FindingsSamples from twelve ethnic groups from the Chad Basin (n = 542) have been high-throughput genotyped for 230 coding region mitochondrial DNA (mtDNA) Single Nucleotide Polymorphisms (mtSNPs) using Matrix-Assisted Laser Desorption/Ionization Time-Of-Flight (MALDI-TOF) mass spectrometry. This set of mtSNPs allowed for much better phylogenetic resolution than previous studies of this geographic region, enabling new insights into its population history. Notable haplogroup (hg) heterogeneity has been observed in the Chad Basin mirroring the different demographic histories of these ethnic groups. As estimated using a Bayesian framework, nomadic populations showed negative growth which was not always correlated to their estimated effective population sizes. Nomads also showed lower diversity values than sedentary groups.Conclusions/SignificanceCompared to sedentary population, nomads showed signals of stronger genetic drift occurring in their ancestral populations. These populations, however, retained more haplotype diversity in their hypervariable segments I (HVS-I), but not their mtSNPs, suggesting a more ancestral ethnogenesis. Whereas the nomadic population showed a higher Mediterranean influence signaled mainly by sub-lineages of M1, R0, U6, and U5, the other populations showed a more consistent sub-Saharan pattern. Although lifestyle may have an influence on diversity patterns and hg composition, analysis of molecular variance has not identified these differences. The present study indicates that analysis of mtSNPs at high resolution could be a fast and extensive approach for screening variation in population studies where labor-intensive techniques such as entire genome sequencing remain unfeasible. PB PLOS YR 2011 FD 2011 LK http://hdl.handle.net/10347/23026 UL http://hdl.handle.net/10347/23026 LA eng NO Cerezo M, Černý V, Carracedo Á, Salas A (2011) New Insights into the Lake Chad Basin Population Structure Revealed by High-Throughput Genotyping of Mitochondrial DNA Coding SNPs. PLoS ONE 6(4): e18682. https://doi.org/10.1371/journal.pone.0018682 NO This research received support from Xunta de Galicia (Grupos Emerxentes; 2008/XA122), two grants from the Fundación de Investigación Médica Mutua Madrileña given to AS, and a Grant Agency of the Czech Republic (Grant no. 206/08/1587) given to VC DS Minerva RD 5 may 2026