title: Helena, the hidden beauty: Resolving the most common West Eurasian mtDNA control region haplotype by massively parallel sequencing an Italian population sample.
abstract: The analysis of mitochondrial (mt)DNA is a powerful tool in forensic genetics when nuclear markers fail to give results or maternal relatedness is investigated. The mtDNA control region (CR) contains highly condensed variation and is therefore routinely typed. Some samples exhibit an identical haplotype in this restricted range. Thus, they convey only weak evidence in forensic queries and limited phylogenetic information. However, a CR match does not imply that also the mtDNA coding regions are identical or samples belong to the same phylogenetic lineage. This is especially the case for the most frequent West Eurasian CR haplotype 263G 315.1C 16519C, which is observed in various clades within haplogroup H and occurs at a frequency of 3-4% in many European populations. In this study, we investigated the power of massively parallel complete mtGenome sequencing in 29 Italian samples displaying the most common West Eurasian CR haplotype - and found an unexpected high diversity. Twenty-eight different haplotypes falling into 19 described sub-clades of haplogroup H were revealed in the samples with identical CR sequences. This study demonstrates the benefit of complete mtGenome sequencing for forensic applications to enforce maximum discrimination, more comprehensive heteroplasmy detection, as well as highest phylogenetic resolution.
authors.affiliation: Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria.
authors.forename: Martin
authors.initials: M
authors.lastname: Bodner
authors.affiliation: Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria; Department of Medical and Surgical Sciences, Institute of Legal Medicine, University of Bologna, Bologna, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Iuvaro
authors.affiliation: Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria.
authors.forename: Christina
authors.initials: C
authors.lastname: Strobl
authors.affiliation: Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria.
authors.forename: Simone
authors.initials: S
authors.lastname: Nagl
authors.affiliation: Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria.
authors.forename: Gabriela
authors.initials: G
authors.lastname: Huber
authors.affiliation: Department of Medical and Surgical Sciences, Institute of Legal Medicine, University of Bologna, Bologna, Italy.
authors.forename: Susi
authors.initials: S
authors.lastname: Pelotti
authors.affiliation: Department of Biological, Geological and Environmental Science, Laboratory of Molecular Anthropology, University of Bologna, Bologna, Italy.
authors.forename: Davide
authors.initials: D
authors.lastname: Pettener
authors.affiliation: Department of Biological, Geological and Environmental Science, Laboratory of Molecular Anthropology, University of Bologna, Bologna, Italy. Electronic address: donata.luiselli@unibo.it.
authors.forename: Donata
authors.initials: D
authors.lastname: Luiselli
authors.affiliation: Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria; Penn State Eberly College of Science, University Park, PA, USA. Electronic address: walther.parson@i-med.ac.at.
authors.forename: Walther
authors.initials: W
authors.lastname: Parson
mesh_terms: D044466:Asian People / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D053803:Forensic Genetics; D054629:Genome, Mitochondrial; D006239:Haplotypes; D006801:Humans; D007558:Italy; D044465:White People / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial
keywords: Forensics; Massively parallel sequencing; Most common haplotype; Power of discrimination; mtDNA; mtDNA haplogroup H