Ancient and recent admixture layers in Sicily and Southern Italy trace multiple migration routes along the Mediterranean.

The Mediterranean shores stretching between Sicily, Southern Italy and the Southern Balkans witnessed a long series of migration processes and cultural exchanges. Accordingly, present-day population diversity is composed by multiple genetic layers, which make the deciphering of different ancestral and historical contributes particularly challenging. We address this issue by genotyping 511 samples from 23 populations of Sicily, Southern Italy, Greece and Albania with the Illumina GenoChip Array, also including new samples from Albanian- and Greek-speaking ethno-linguistic minorities of Southern Italy. Our results reveal a shared Mediterranean genetic continuity, extending from Sicily to Cyprus, where Southern Italian populations appear genetically closer to Greek-speaking islands than to continental Greece. Besides a predominant Neolithic background, we identify traces of Post-Neolithic Levantine- and Caucasus-related ancestries, compatible with maritime Bronze-Age migrations. We argue that these results may have important implications in the cultural history of Europe, such as in the diffusion of some Indo-European languages. Instead, recent historical expansions from North-Eastern Europe account for the observed differentiation of present-day continental Southern Balkan groups. Patterns of IBD-sharing directly reconnect Albanian-speaking Arbereshe with a recent Balkan-source origin, while Greek-speaking communities of Southern Italy cluster with their Italian-speaking neighbours suggesting a long-term history of presence in Southern Italy.

Genetic Structure of an Isolated Rural Population in North Albania Evaluated Through Isonymic Method.

The genetic structure of a rural isolated population living in Kukës District in northern part of Albania, was analyzed through the surnames distribution. The data suitable for this analysis were obtained from Electoral Register (2009) offered by Central Election Commission of Albania. In order to estimate the population diversity, the information from the populations of 10 administrative units (communes) for a total of 1768 surnames belonging to 39571 individuals was used. Indicators of genetic structure such as Fisher's α, an estimate of surname diversity and coefficient of consanguinity (F), were obtained. Different genetic distances between all possible pairs of 10 municipalities (populations) were calculated and the correlation with geographic distance was tested. Lasker's, Nei and Euclidean distances were positively correlated with geographic distance, indicating the presence of isolation by distance. In addition, the application of multivariate analysis such as Cluster and Principal Components to isonymic distance matrix revealed that the trend of genetic relationships among the investigated populations was according to their geographic locations. This is an important indication that geographic distance could be a determinant factor in the definition of the above population's genetic structure.

Plants, people and traditions: ethnobotanical survey in the Lombard Stelvio National Park and neighbouring areas (Central Alps, Italy).

ETHNOPHARMACOLOGICAL RELEVANCE: The value of ethnobotanical information is now increasingly acknowledged. Our investigation added new data to the traditional knowledge on the plant uses in Italian alpine areas, where only in recent years the awareness of losing such valuable heritage stimulated interest of the scientific community and land managers in its recovery and enhancement. To this end, the present study aimed to collect and analyse information on plant species employed in Northern Italy (Lombardy Region), particularly in Alta Valtellina, an area of high naturalistic interest, where ethnobotanical knowledge is at the risk of passing covering a secondary role compared to other aspects of the local culture. MATERIALS AND METHODS: A total of 328 people from six municipalities were interviewed using semi-structured questionnaires. Data were evaluated by quantitative parameters such as ethnobotanicity and ethnophytonomic indices, factor informant consensus (Fic), fidelity level (Fl). Abandoned and current uses were compared. Herbarium materials were prepared and conserved. RESULTS: Inhabitants of Alta Valtellina used 212 plant species, including 19 mushrooms and 1 lichen for medicinal, food and cosmetic purposes. Despite half of medicinal uses has fallen into disuse, the plant species of this category were still collected in largest number. Digestive, respiratory and skin systems were the most frequently treated. Fic and Fl values, in addition to simple percentage data confirmed this finding. Although 40% of the known uses is now abandoned, a considerable number of them was recorded for the first time in an alpine area. CONCLUSIONS: The study revealed that the popular knowledge of plant species is still alive in the Alta Valtellina. The prerogatives of some species are now outdated, but they leave room for other uses of the plant resources that may provide new opportunities from the scientific, cultural and economic points of view.

Surnames in Albania: a study of the population of Albania through isonymy.

In order to describe the isonymic structure of Albania, the distribution of 3,068,447 surnames was studied in the 12 prefectures and their administrative subdivisions: the 36 districts and 321 communes. The number of different surnames found was 37,184. Effective surname number for the entire country was 1327, the average for prefectures was 653.3 ± 84.3, for districts 365.9 ± 42.0 and for communes 122.6 ± 8.7. These values display a variation of inbreeding between administrative levels in the Albanian population, which can be attributed to the previously published "Prefecture effect". Matrices of isonymic distances between units within administrative levels were tested for correlation with geographic distances. The correlations were highest for prefectures (r = 0.71 ± 0.06 for Euclidean distance) and lowest for communes (r = 0.37 ± 0.011 for Nei's distance). The multivariate analyses (Principal component analysis and Multidimensional Scaling) of prefectures identify three main clusters, one toward the North, the second in Central Albania, and the third in the South. This pattern is consistent with important subclusters from districts and communes, which point out that the country may have been colonised by diffusion of groups in the North-South direction, and from Macedonia in the East, over a pre-existing Illiryan population.

Optimization of DNA concentration to amplify short tandem repeats of human genomic DNA.

Analysis of the length polymorphisms of short tandem repeats (STR) loci in the human genome has become a standard approach for comparative genotyping in many areas including disease research and diagnostics, parentage assessment, investigations of human diversity, and forensic science. The purpose of this study is to optimize the DNA concentration in ng/10 µL for amplification of DNA markers. AmpFlSTR Identifiler Kit is used to amplify STR markers and capillary electrophoresis is used to analyze DNA profile of human the genome. Two sets of samples with following DNA concentration: 100 pg - 6 ng/25 µL were used for this study. There was no DNA profile detected in samples with concentrations 100 pg - 300 pg/ 25 µL (pictogram), while in some cases partial DNA profile was yielded. On the other hand samples with 0.4 ng - 4 ng/ 25 µL, yielded a full DNA profile. We were not able to obtain any profile using concentrations over 4 ng/ 25 µL. Improvements in detection limits/sensitivity at upper and lower DNA concentrations are of potential benefits to amplify STR of Human Genomic in order to obtain a full DNA profile. The optimal DNA concentrations which produced reliable and balanced peaks, no off scale peaks and full DNA profile for all loci were at range 0.4 ng - 3 ng/ 25 µL.

Disuniting uniformity: a pied cladistic canvas of mtDNA haplogroup H in Eurasia.

It has been often stated that the overall pattern of human maternal lineages in Europe is largely uniform. Yet this uniformity may also result from an insufficient depth and width of the phylogenetic analysis, in particular of the predominant western Eurasian haplogroup (Hg) H that comprises nearly a half of the European mitochondrial DNA (mtDNA) pool. Making use of the coding sequence information from 267 mtDNA Hg H sequences, we have analyzed 830 mtDNA genomes, from 11 European, Near and Middle Eastern, Central Asian, and Altaian populations. In addition to the seven previously specified subhaplogroups, we define fifteen novel subclades of Hg H present in the extant human populations of western Eurasia. The refinement of the phylogenetic resolution has allowed us to resolve a large number of homoplasies in phylogenetic trees of Hg H based on the first hypervariable segment (HVS-I) of mtDNA. As many as 50 out of 125 polymorphic positions in HVS-I were found to be mutated in more than one subcluster of Hg H. The phylogeographic analysis revealed that sub-Hgs H1*, H1b, H1f, H2a, H3, H6a, H6b, and H8 demonstrate distinct phylogeographic patterns. The monophyletic subhaplogroups of Hg H provide means for further progress in the understanding of the (pre)historic movements of women in Eurasia and for the understanding of the present-day genetic diversity of western Eurasians in general.

Phylogeography of Y-chromosome haplogroup I reveals distinct domains of prehistoric gene flow in europe.

To investigate which aspects of contemporary human Y-chromosome variation in Europe are characteristic of primary colonization, late-glacial expansions from refuge areas, Neolithic dispersals, or more recent events of gene flow, we have analyzed, in detail, haplogroup I (Hg I), the only major clade of the Y phylogeny that is widespread over Europe but virtually absent elsewhere. The analysis of 1,104 Hg I Y chromosomes, which were identified in the survey of 7,574 males from 60 population samples, revealed several subclades with distinct geographic distributions. Subclade I1a accounts for most of Hg I in Scandinavia, with a rapidly decreasing frequency toward both the East European Plain and the Atlantic fringe, but microsatellite diversity reveals that France could be the source region of the early spread of both I1a and the less common I1c. Also, I1b*, which extends from the eastern Adriatic to eastern Europe and declines noticeably toward the southern Balkans and abruptly toward the periphery of northern Italy, probably diffused after the Last Glacial Maximum from a homeland in eastern Europe or the Balkans. In contrast, I1b2 most likely arose in southern France/Iberia. Similarly to the other subclades, it underwent a postglacial expansion and marked the human colonization of Sardinia approximately 9,000 years ago.

The western and eastern roots of the Saami--the story of genetic "outliers" told by mitochondrial DNA and Y chromosomes.

The Saami are regarded as extreme genetic outliers among European populations. In this study, a high-resolution phylogenetic analysis of Saami genetic heritage was undertaken in a comprehensive context, through use of maternally inherited mitochondrial DNA (mtDNA) and paternally inherited Y-chromosomal variation. DNA variants present in the Saami were compared with those found in Europe and Siberia, through use of both new and previously published data from 445 Saami and 17,096 western Eurasian and Siberian mtDNA samples, as well as 127 Saami and 2,840 western Eurasian and Siberian Y-chromosome samples. It was shown that the "Saami motif" variant of mtDNA haplogroup U5b is present in a large area outside Scandinavia. A detailed phylogeographic analysis of one of the predominant Saami mtDNA haplogroups, U5b1b, which also includes the lineages of the "Saami motif," was undertaken in 31 populations. The results indicate that the origin of U5b1b, as for the other predominant Saami haplogroup, V, is most likely in western, rather than eastern, Europe. Furthermore, an additional haplogroup (H1) spread among the Saami was virtually absent in 781 Samoyed and Ob-Ugric Siberians but was present in western and central European populations. The Y-chromosomal variety in the Saami is also consistent with their European ancestry. It suggests that the large genetic separation of the Saami from other Europeans is best explained by assuming that the Saami are descendants of a narrow, distinctive subset of Europeans. In particular, no evidence of a significant directional gene flow from extant aboriginal Siberian populations into the haploid gene pools of the Saami was found.

Origin and diffusion of mtDNA haplogroup X.

A maximum parsimony tree of 21 complete mitochondrial DNA (mtDNA) sequences belonging to haplogroup X and the survey of the haplogroup-associated polymorphisms in 13,589 mtDNAs from Eurasia and Africa revealed that haplogroup X is subdivided into two major branches, here defined as "X1" and "X2." The first is restricted to the populations of North and East Africa and the Near East, whereas X2 encompasses all X mtDNAs from Europe, western and Central Asia, Siberia, and the great majority of the Near East, as well as some North African samples. Subhaplogroup X1 diversity indicates an early coalescence time, whereas X2 has apparently undergone a more recent population expansion in Eurasia, most likely around or after the last glacial maximum. It is notable that X2 includes the two complete Native American X sequences that constitute the distinctive X2a clade, a clade that lacks close relatives in the entire Old World, including Siberia. The position of X2a in the phylogenetic tree suggests an early split from the other X2 clades, likely at the very beginning of their expansion and spread from the Near East.

Isonymy and the genetic structure of Albanian populations.

It is well known that in systems of surname transmission through the paternal line, surnames simulate neutral gene alleles belonging to the Y chromosome. This property of surnames was used to analyze the genetic structure of Albanian populations. Two large samples of surnames belonging to two different periods of time were analyzed. The analysis of indicators of population structure showed that geographical distance has an important effect on surname distribution. It seems that isolation by distance and genetic drift have been still important factors in the determination of the genetic structure of the Albanian population.