Helena’s Many Daughters: More Mitogenome Diversity behind the Most Common West Eurasian mtDNA Control Region Haplotype in an Extended Italian Population Sample

Martin Bodner, Christina Amory, Anna Olivieri, Francesca Gandini, Irene Cardinali, Hovirag Lancioni, Gabriela Huber, Catarina Xavier, Maria Pala, Alessandro Fichera, Lisa Schnaller, Mario Gysi, Stefania Sarno, Davide Pettener, Donata Luiselli, Martin B. Richards, Ornella Semino, Alessandro Achilli, Antonio Torroni, Walther Parson

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Article number6725
Number of pages16
JournalInternational Journal of Molecular Sciences
Volume23
Issue number12
DOIs
Publication statusPublished - 16 Jun 2022

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