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Traces of forgotten historical events in mountain communities in C entral I taly: A genetic insight
Author(s) -
Messina Francesco,
Finocchio Andrea,
Rolfo Mario Federico,
De Angelis Flavio,
Rapone Cesare,
Coletta Martina,
MartínezLabarga Cristina,
Biondi Gianfranco,
Berti Andrea,
Rickards Olga
Publication year - 2015
Publication title -
american journal of human biology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.559
H-Index - 81
eISSN - 1520-6300
pISSN - 1042-0533
DOI - 10.1002/ajhb.22677
Subject(s) - haplogroup , hypervariable region , genetic variation , gene pool , evolutionary biology , biology , mitochondrial dna , lineage (genetic) , haplotype , genetic structure , human mitochondrial dna haplogroup , geography , genetic diversity , genetics , genotype , demography , gene , population , sociology
Objectives Analysis of human genetic variation in mountain communities can shed light on the peopling of mountainous regions, perhaps revealing whether the remote geographic location spared them from outside invasion and preserved their gene pool from admixture. In this study, we created a model to assess genetic traces of historical events by reconstructing the paternal and maternal genetic history of seven small mountain villages in inland valleys of Central Italy. Methods The communities were selected for their geographic isolation, attested biodemographic stability, and documented history prior to the Roman conquest. We studied the genetic structure by analyzing two hypervariable segments (HVS‐I and HVS‐II) of the mtDNA D‐loop and several informative single nucleotide polymorphisms (SNPs) of the mtDNA coding region in 346 individuals, in addition to 17 short tandem repeats (STRs) and Y‐chromosome SNPs in 237 male individuals. Results For both uniparental markers, most of the haplogroups originated in Western Europe while some Near Eastern haplogroups were identified at low frequencies. However, there was an evident genetic similarity between the Central Italian samples and Near Eastern populations mainly in the male genetic pool. Conclusions The samples highlight an overall European genetic pattern both for mtDNA and Y chromosome. Notwithstanding this scenario, Y chromosome haplogroup Q, a common paternal lineage in Central/Western Asia but almost Europe‐wide absent, was found, suggesting that Central Italy could have hosted a settlement from Anatolia that might be supported by cultural, topographic and genetic evidence. Am. J. Hum. Biol. 27:508–519, 2015. © 2015 Wiley Periodicals, Inc.