Helena,the hidden beauty: Resolving the most common West Eurasian mtDNA control region haplotype by massively parallel sequencing an Italian population sample |
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| Institution: | 1. Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria;2. Department of Medical and Surgical Sciences, Institute of Legal Medicine, University of Bologna, Bologna, Italy;3. Department of Biological, Geological and Environmental Science, Laboratory of Molecular Anthropology, University of Bologna, Bologna, Italy;4. Penn State Eberly College of Science, University Park, PA, USA;1. Department of Economics, Chuo University, 742-1, Higashi–Nakano, Hachioji, Tokyo 192-0393, Japan;2. Psychology Department, via Verdi 10, University of Torino, Torino I 10124, Italy;3. Department of Applied Mathematics, University of Pécs, Ifjúság u. 6, Pécs H-7624, Hungary;1. Department of Molecular and Forensic Genetics, Institute of Forensic Medicine, Ludwik Rydygier Collegium Medicum, Nicolaus Copernicus University, 9 Sklodowskiej-Curie Street, 85-094 Bydgoszcz, Poland;2. Institute of Biological Problems of the North, Far-East Branch of the Russian Academy of Sciences, 18 Portovaya Street, 685000 Magadan, Russia;3. Department of Vascular Surgery and Angiology, Ludwik Rydygier Collegium Medicum, Nicolaus Copernicus University, 9 Sklodowskiej-Curie Street, 85-094 Bydgoszcz, Poland;4. Department of Clinical Pathomorphology, Ludwik Rydygier Collegium Medicum, Nicolaus Copernicus University, 9 Sklodowskiej-Curie Street, 85-094 Bydgoszcz, Poland;5. Interdisciplinary Centre for Mathematical and Computational Modelling, University of Warsaw, 5a Pawinskiego Street, 02-106 Warsaw, Poland;1. Department of Biological Sciences, School of Applied Sciences, University of Huddersfield, Queensgate, Huddersfield, UK;2. CBMA (Centre of Molecular and Environmental Biology), Department of Biology, University of Minho, Campus de Gualtar, 4710–057 Braga, Portugal;3. Dipartimento di Biologia e Biotecnologie “L. Spallanzani”, Università di Pavia, Pavia, Italy;1. Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Pawinskiego 5a Street, Warsaw, 02-106, Poland;2. Department of Diagnostics and Microsurgery of Glaucoma, Medical University of Lublin, Chmielna 1 Street, Lublin, 20-079, Poland;3. Institute of Biochemistry and Biophysics Polish Academy of Sciences, Pawinskiego 5a Street, Warsaw, 02-106, Poland;1. Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, Instituto de Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, and GenPop Research Group, Instituto de Investigaciones Sanitarias (IDIS), Hospital Clínico Universitario de Santiago, Galicia, Spain;2. Grupo de Investigación en Genética, Vacunas, Infecciones y Pediatría (GENVIP), Hospital Clínico Universitario and Universidade de Santiago de Compostela, Galicia, Spain;3. Translational Pediatrics and Infectious Diseases, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, Galicia, Spain |
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| 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. |
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| Keywords: | Massively parallel sequencing mtDNA Forensics Most common haplotype Power of discrimination mtDNA haplogroup H |
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