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Paternal and Maternal Genetic Diversity on the Island of Cres: A Survey of Y-Chromosome And mtDNA Variation

The island of Cres is the biggest island of the Adriatic archipelago. Human occupation of its territory lasts from at least Neolithic period according to archaeological findings. From that period many historically recorded peoples have lived on this island. Our previous studies of mitochondrial DNA (mtDNA) and their frequencies revealed some very interesting departures from general European populations. Certain lineages are present with unusually high frequencies, such as U2e (20.2%), W1 (9.2%) and N1a (9.2%). Given that all this subhaplogroups are present among contemporary Europeans with less than 1%, or even are absent, the population of the Cres Island is a true example of the genetic outlier. In this study we have performed complete sequencing of some intriguing mtDNA lineages. The results reviled possible new variants of subhaplogroups, previously not reported elsewhere. Paternal genetic diversity of contemporary Cres islanders on a sample of 99 unrelated autochthonous adults revealed high predominance of R1a haplogroup (56.6%) which could be connected with Slavic expansions to this area between 6th and 8th centuries. The predominant Y chromosome haplogroup of South–Eastern Europe, hg I2a2, present in most of the population with average frequency of around 30%, is very much underrepresented in our Cres sample with only 6.1%. Possible contribution of Neolithic movements of populations in this area is seen through a relatively high frequencies of Y chromosome haplogroups J2a (9.1), J2b (5.1) and G2a (6.1), which are associated with Neolithic migrations from Middle and Near East and North Africa.

mtDNA; Y chromosome; island of Cres; genetic outlier; Neolithic migrations

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