RT Journal Article
T1 A Reduced Number of mtSNPs Saturates Mitochondrial DNA Haplotype Diversity of Worldwide Population Groups
A1 Salas Ellacuriaga, Antonio
A1 Amigo Lechuga, Jorge
AB Background: The high levels of variation characterising the mitochondrial DNA (mtDNA) molecule are due ultimately to itshigh average mutation rate; moreover, mtDNA variation is deeply structured in different populations and ethnic groups.There is growing interest in selecting a reduced number of mtDNA single nucleotide polymorphisms (mtSNPs) that accountfor the maximum level of discrimination power in a given population. Applications of the selected mtSNP panel range fromanthropologic and medical studies to forensic genetic casework.Methodology/Principal Findings: This study proposes a new simulation-based method that explores the ability of differentmtSNP panels to yield the maximum levels of discrimination power. The method explores subsets of mtSNPs of differentsizes randomly chosen from a preselected panel of mtSNPs based on frequency. More than 2,000 complete genomesrepresenting three main continental human population groups (Africa, Europe, and Asia) and two admixed populations(‘‘African-Americans’’ and ‘‘Hispanics’’) were collected from GenBank and the literature, and were used as training sets.Haplotype diversity was measured for each combination of mtSNP and compared with existing mtSNP panels available inthe literature. The data indicates that only a reduced number of mtSNPs ranging from six to 22 are needed to account for95% of the maximum haplotype diversity of a given population sample. However, only a small proportion of the bestmtSNPs are shared between populations, indicating that there is not a perfect set of ‘‘universal’’ mtSNPs suitable for allpopulation contexts. The discrimination power provided by these mtSNPs is much higher than the power of the mtSNPpanels proposed in the literature to date. Some mtSNP combinations also yield high diversity values in admixedpopulations.Conclusions/Significance: The proposed computational approach for exploring combinations of mtSNPs that optimise thediscrimination power of a given set of mtSNPs is more efficient than previous empirical approaches. In contrast toprecedent findings, the results seem to indicate that only few mtSNPs are needed to reach high levels of discriminationpower in a population, independently of its ancestral background.
PB PLOS
YR 2010
FD 2010
LK http://hdl.handle.net/10347/22896
UL http://hdl.handle.net/10347/22896
LA eng
NO Salas A, Amigo J (2010) A Reduced Number of mtSNPs Saturates Mitochondrial DNA Haplotype Diversity of Worldwide Population Groups. PLoS ONE 5(5): e10218. https://doi.org/10.1371/journal.pone.0010218
NO Two grants from Fundacion de Investigacion Medica Mutua Madrile a (2006/CL370 and 2008/CL444), a grant Grupos Emerxentes from Xunta de Galicia (2008/XA122) and “Fondos Feder”, and a grant from the Ministerio de Ciencia e Innovacion (SAF2008-02971) awarded to A. Salas supported this project
DS Minerva
RD 28 abr 2026