Highlights
- •This study presents the first set of forensic-quality mitogenome sequences from autochthonous Basques.
- •We confirm and extend the previous observation of Basque-specific mtDNA lineages.
- •Our findings are discussed in the light of the established phylogeny.
- •The mitogenome data are available in searchable format via the EMPOP database.
Abstract
The Basque Country has been the focus of population (genetic) and evolutionary studies
for decades, as it represents an interesting evolutionary feature: it is the only
European country where a non-Indo-European language is still spoken today and, for
which there are no known living or extinct relatives. Early studies that were based
on anatomical and serological methods, along with subsequent molecular genetic investigations,
contain controversial interpretations of their data. Additionally, the analysis of
mitochondrial DNA, which is maternally inherited and thus suitable for the examination
of the maternal phylogeny of the population, was the focus of some studies. Early
mtDNA studies were however restricted to the information provided by the control region
or its hypervariable segments only. These are known to harbour little phylogenetic
information, particularly for haplogroup H that is dominant in Westeurasian populations
including the Basques. Later studies analysed complete mitogenome sequences. Their
information content is however limited, either because the number of samples was low,
or because these studies only considered particular haplogroups. In this study we
present the full mitogenome sequences of 178 autochthonous Basque individuals that
were carefully selected based on their familial descent and discuss the observed phylogenetic
signals in the light of earlier published findings. We confirm the presence of Basque-specific
mtDNA lineages and extend the knowledge of these lineages by providing data on their
distribution in comparison to other Basque and non-Basque populations. This dataset
improves our understanding of the Basque mtDNA phylogeny and serves as a high-quality
dataset that is provided via EMPOP for forensic genetic purposes.
Keywords
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Article info
Publication history
Published online: February 06, 2020
Accepted:
February 1,
2020
Received in revised form:
November 26,
2019
Received:
August 12,
2019
Identification
Copyright
© 2020 Elsevier B.V. All rights reserved.
