@article{d2a6ad9b0f324d438e697eb28d417e4f,
title = "Helena{\textquoteright}s Many Daughters: More Mitogenome Diversity behind the Most Common West Eurasian mtDNA Control Region Haplotype in an Extended Italian Population Sample",
abstract = "The high number of matching haplotypes of the most common mitochondrial (mt)DNA lineages are considered to be the greatest limitation for forensic applications. This study investigates the potential to solve this constraint by massively parallel sequencing a large number of mitogenomes that share the most common West Eurasian mtDNA control region (CR) haplotype motif (263G 315.1C 16519C). We augmented a pilot study on 29 to a total of 216 Italian mitogenomes that represents the largest set of the most common CR haplotype compiled from a single country. The extended population sample confirmed and extended the huge coding region diversity behind the most common CR motif. Complete mitogenome sequencing allowed for the detection of 163 distinct haplotypes, raising the power of discrimination from 0 (CR) to 99.6% (mitogenome). The mtDNAs were clustered into 61 named clades of haplogroup H and did not reveal phylogeographic trends within Italy. Rapid individualization approaches for investigative purposes are limited to the most frequent H clades of the dataset, viz. H1, H3, and H7.",
keywords = "forensics, massively parallel sequencing, most common haplotype, mtDNA haplogroup H, next-generation sequencing, power of discrimination, random match probability",
author = "Martin Bodner and Christina Amory and Anna Olivieri and Francesca Gandini and Irene Cardinali and Hovirag Lancioni and Gabriela Huber and Catarina Xavier and Maria Pala and Alessandro Fichera and Lisa Schnaller and Mario Gysi and Stefania Sarno and Davide Pettener and Donata Luiselli and Richards, {Martin B.} and Ornella Semino and Alessandro Achilli and Antonio Torroni and Walther Parson",
note = "Funding Information: Funding: This research was funded by the Italian Ministry of Education, University and Research (MIUR): the project PRIN2017 2017CWHLHY (to A.T.) and Dipartimenti di Eccellenza Program (2018–2022)—Department of Biology and Biotechnology “L. Spallanzani” University of Pavia (to A.A., A.O., O.S. and A.T.), the intramural funding program of the Medical University of Innsbruck for young scientists MUISTART (Project 2013042025) (to M.B.), the Theodor K{\"o}rner-Fonds zur F{\"o}rderung von Wissenschaft und Kunst (to M.B.), the D. Swarovski F{\"o}rderungsfonds (DSF 2015-1-1) (to M.B.), the Tiroler Wissenschaftsfonds (TWF) (UNI-404/1998) (to M.B.), and the Leverhulme Trust (to A.F., M.P. and M.B.R.). Gef{\"o}rdert aus Mitteln des vom Land Tirol eingerichteten Wissenschaftsfonds. Funding Information: This research was funded by the Italian Ministry of Education, University and Research (MIUR): the project PRIN2017 2017CWHLHY (to A.T.) and Dipartimenti di Eccellenza Program (2018–2022)—Department of Biology and Biotechnology “L. Spallanzani” University of Pavia (to A.A., A.O., O.S. and A.T.), the intramural funding program of the Medical University of Innsbruck for young scientists MUISTART (Project 2013042025) (to M.B.), the Theodor K{\"o}rner-Fonds zur F{\"o}rderung von Wissenschaft und Kunst (to M.B.), the D. Swarovski F{\"o}rderungsfonds (DSF 2015-1-1) (to M.B.), the Tiroler Wissenschaftsfonds (TWF) (UNI-404/1998) (to M.B.), and the Leverhulme Trust (to A.F., M.P. and M.B.R.). Gef{\"o}rdert aus Mitteln des vom Land Tirol eingerichteten Wissenschaftsfonds. The authors are grateful to all donors that gave their DNA for science. They wish to thank the scientists, technicians and database curators, whose perseverance in sampling and documentation has enabled this project that used only a small proportion of the collections. The authors are indebted to Alessandra Iuvaro (formerly at Forensic Genetics Laboratory, Department of Medical and Surgical Sciences, University of Bologna, Italy) and Simone Nagl (formerly at Institute of Legal Medicine, Medical University of Innsbruck, Austria) for technical assistance. The authors are grateful to the Ge.F.I. (Genetisti Forensi Italiani) group, in particular Chiara Turchi (Section of Legal Medicine, Department of Excellence of Biomedical Sciences and Public Health, Polytechnic University of Marche, Ancona, Italy) and Susi Pelotti (Forensic Genetics Laboratory, Department of Medical and Surgical Sciences, University of Bologna, Italy) for continuous support. Publisher Copyright: {\textcopyright} 2022 by the authors. Licensee MDPI, Basel, Switzerland.",
year = "2022",
month = jun,
day = "16",
doi = "10.3390/ijms23126725",
language = "English",
volume = "23",
journal = "International Journal of Molecular Sciences",
issn = "1661-6596",
publisher = "Multidisciplinary Digital Publishing Institute (MDPI)",
number = "12",
}
