Middle Eastern and European mtDNA lineages characterize populations from eastern Crete

Abstract

Throughout centuries, the geographic location of the island of Crete has been one of the leading factors shaping the composition of its population. Invasions and commercial and cultural ties at various time periods with European, Middle Eastern, and North African civilizations have created a collage of genetic and/or cultural influences from each of these regions within the island. Previous Y-chromosome diversity analyses uncovered pronounced differences in the frequency distribution of haplogroups from a mountain refugium and surrounding lowland populations of eastern Crete. In this study, the current geographic stratification of mtDNA haplotypes in eastern Crete was explored to elucidate potential sources of maternal gene flow. Our work includes a comparative characterization of two lowland collections from the Heraklion and Lasithi Prefectures in eastern Crete, as well as of an isolated mountain population from the Lasithi Plateau, all three previously examined using Y-chromosome markers. In addition to the presence of European mtDNA haplogroups in all three collections, our analyses reveal a significant contribution of Middle Eastern and Central Asian genetic signatures in the island of Crete, and particularly in the two populations from the Lasithi region at the eastern-most portion of the island. Close association between these Cretan groups and the Balkans can also be discerned, which in the case of the Lasithi Plateau corroborates previously uncovered Y-chromosome affiliations with the same geographic region.

Genetic history of the population of Crete

“…The earliest studies on Y DNA had shown considerable heterogeneity between the Cretans (Di Giacomo et al., ; Malaspina et al., ), with later studies correlating haplotypes from various areas of Crete with Balkan, Italian, Anatolian, or even paleolithic populations (King et al., ; Martinez et al., ; Voskarides et al., ). The study of mtDNA initially supported the previous findings, especially on the matter of paleolithic signatures, along with a Middle Eastern component in the Cretan population (Martinez et al., ). The study of ancient mtDNA from Crete identified high genetic affinity of the ancient Cretans with modern Cretans and Neolithic Europeans (Hughey et al., ).…”

“…Population genetics analysis can complement historical approaches by detecting and quantifying changes in population structure as a result of migrations and population admixture, but, to the best of our knowledge, no Cretan genetic analyses based on wholegenome autosomal markers have appeared in prior work. A number of studies have been conducted using Y DNA (Di Giacomo et al, 2003;King et al, 2008;Malaspina et al, 2001;Martinez et al, 2007;Voskarides et al, 2016) or mtDNA (Hughey et al, 2013;Martinez, Mirabal, Luis, & Herrera, 2008), generating results that raised interesting points for investigation, but with nondefinite conclusions, limited by the amount of information that a small number of genetic loci can provide. The earliest studies on Y DNA had shown considerable heterogeneity between the Cretans (Di Giacomo et al, 2003;Malaspina et al, 2001), with later studies correlating haplotypes from various areas of Crete with Balkan, Italian, Anatolian, or even paleolithic populations (King et al, 2008;Martinez et al, 2007;Voskarides et al, 2016).…”

Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants

“…Archaeological studies have proposed North African3940, Cycladic41, Anatolian4142 and Middle Eastern origins4344. Genetic studies in modern Cretan populations using Y-chromosomal or mitochondrial DNA to infer ancient ancestry of the Bronze Age Cretans have indicated Anatolian45, Middle Eastern and Balkan4647 origins. A recent mitochondrial DNA study refuted the hypothesis of North African Ancestry, and Minoans were found to show the strongest relationships with Neolithic Spanish, Neolithic Italian and modern European populations as well as with the modern inhabitants of the Lassithi plateau in Central Crete48.…”

A European population in Minoan Bronze Age Crete

“…Based on a variety of archaeological finds, other archaeologists have argued for Cycladic9, Anatolian910, Syrian or Palestinian1112 migrations or for an autochthonous development of the Minoan civilization from the initial inhabitants of Crete13. Attempts to infer ancient ancestry of the Bronze Age Cretans using Y-chromosomal or mitochondrial DNA (mtDNA) studies of the modern Cretan populations have yielded conflicting results, supporting Balkan14, Anatolian15, or Middle Eastern and Balkan16 origins.…”