Finally, the ethno-linguistic Germanic islands of the Eastern Alps are in continuity with nuclei that migrated from Bavaria, Carinthia and Tyrol in the late Middle Ages, a process driven by the landed aristocracy and the monasteries with the objective of a more intensive exploitation of marginal territories [ 20 ].
The dataset was integrated with an extensive search of literature data on unilinear transmitted markers [ 32 ] relative to populations living in the Alps or in other European mountain ranges Pyrenees see Table S1. Buccal swabs were collected in apparently healthy and unrelated donors selected according to the place of birth of the sampled individual and of their parents and grandparents.
All participants provided written informed consent to participate in this study. Firstly, all samples were tested by one basal multiplex MY1 following the protocol reported in Onofri et al. Phylogenetic relationships between markers and nomenclature follow the International Society of Genetic Genealogy April , Ver 8.
Unless otherwise stated, statistical analyses were performed using 15 STRs, having excluded the duplicated DYS loci. The level of intra-population genetic variation was analyzed through the calculation of haplotype diversity HD and the number of different haplotypes H.
We partitioned genetic variance at different hierarchical levels of population subdivision according to language groups Italian, Ladin and German by means of a molecular analysis of variance AMOVA. All parameters of intra and inter-population genetic diversity were calculated using the Arlequin software version 3. We used a coalescent based simulation approach in order to evaluate whether the observed values of within-group genetic diversity may be attributed solely to the size of the founding group see Tofanelli et al.
We separated Italians into two sub-groups, western and eastern, according to their different current census size and previous mtDNA evidence [ 40 ]. Adige valley and Cimbrian populations were not considered to be part of the simulations because of the difficulties and uncertainties in modeling their evolutionary history.
Based on current historical records, we designed two different topologies, one for the German-speaking island group and one for the two Italian sub-groups and Ladin speaking group. In both topologies see Figure S1 three sub-populations split from a large source population at a certain time T1 which were identified as Central-Western Europe but which differ in splitting times generations for German speaking islands and generation for all the other groups. According to Bramanti et al. Growth rate for the source population was set at 0. The growth rate for the sink populations was set as half of the highest value of the source.
A symmetrical gene flow between source and sink was allowed 0. We simulated 10K random genealogies for the Y chromosome 15 STRs using the mutation rate estimates of Ballantyne et al. For each scenario, we randomly sampled 50 individuals from each sink population and analyzed within-group diversity for each simulation using Arlequin 3. The Eastern Italian Alps embrace an important portion of the ethno linguistic diversity of the alpine arch, encompassing Romance including Ladins and Italians and German speakers.
Their genetic characterization highlights a high level of diversity not only among single populations, but also within linguistic groups, a pattern which is likely to be due to a complex interplay of demographic histories and isolation determined by environmental and cultural factors. The spatial relationships among populations differ between the two plots, with the SNP-based patterns probably mirroring more ancient population relationships due to their slower evolutionary rate.
However, with both data-type populations under study are well separated and no linguistic structure of genetic diversity is detectable. This latter feature may be appreciated in a quantitative way by an AMOVA performed among linguistic groups, which produced low values of intergroup variation from 0. First component x axis and second component y axis explain Acronyms are given in Table 1. To gain further insights into the genetic diversity occurring within each linguistic group, we went one step further by focusing on their genetic structure.
The Italian speaking group was found to be the most genetically homogeneous. Within group variation 0.
- Asher Salah!
- The Skeleton Key: A Short Story Exclusive (Sigma Force Novels);
- La stanza della gallina (Italian Edition)?
- Toma mi mano (Spanish Edition);
- Emery, Carlo () - AntWiki?
- Reberts Rules of Ordure:A Guidebook to the Social and Political Language of Our Times.
Furthermore, they show high haplotype diversity values, with the highest observed in the Adige valley 0. This pattern may be explained in two, not mutually exclusive, ways. Italian speaking populations have, since historical times constituted the most numerous ethno-linguistic group in the Eastern Alps, and they did not suffer from any historically documented bottleneck.
- Italian Academies and Their Networks, – | SpringerLink!
- Chasse cette vivante... (Littérature) (French Edition).
- PICCOLO, The Sea Prince.
Their present census values are comparable or higher than those of the other two groups under study see Table 1. Furthermore, having settled in zones which are characterized by wider valleys, lower altitudes from to m a. Finally, the Adige river has provided a supplementary communication route, favoring population movements and interactions [ 44 ].
The genetic differentiation among Ladin valleys noticed in the plots is supported by other analyses of STR haplotype distribution.
Accademia ; Università Saggi PDF Book - Mediafile Sharing
Their intra-group variation 0. Another likely effect of genetic drift may be seen in the intra-population diversity values HD , which are lower than those observed in Italian speaking communities and in most European populations Table S6. This is particularly evident for the communities from the Gardena and Badia valleys South-Tyrol , which, correspondingly, depart more evidently from the main central group in the genetic distance plot Figure 2A. Signatures of intra-group diversity are also provided by a phylogeographic approach. However, it should be noted that the inclusion of a third population Fassa Valley and the higher resolution of Y chromosome genotyping make our inferences more robust.
C, and then by German-speaking people Gardena and Badia valleys from the end of the 4 th century, and the consequent reduction in their settlement area and demographic size [ 46 ]. Moreover, the considerable altitude of the Ladin valleys from to m a. The German speaking populations show the most marked signatures of genetic drift.
As predicted by the outlying positions of Sappada, Timau and Luserna in the plot of genetic distances, the intra-group variation is very high 0. Moreover, the haplotype diversity values in these populations are the lowest of the the dataset, with the exception of Lessinia see Table S6. The considerable differentiation among German-speaking populations may be also seen as a consequence of their demographic history.
In fact, they are in continuity with small founding groups [ 47 ] which settled in the present day location in Medieval times. In this condition, the members of each community tend to identify their ancestry with their own village rather than considering themselves as part of the same ethnic group, similarly to what occurs in other alpine regions [ 48 ]. The genetic differentiation between the two Cimbri populations of Luserna and Lessinia deserves further discussion. Lessinia shows different, if not opposite, features. The demographic history of the Luserna and Lessinia communities may help explain their differentiation.
Luserna was founded by few families which moved from Lavarone, the first known Cimbrian settlement in the territory of Trentino [ 44 ]. This could have led to a strong founder effect in this community, a hypothesis supported by a previous study of mtDNA polymorphisms [ 40 ]. Moreover, Luserna is located on a high plateau 1, m a. By contrast, Lessinia, a more extensive area with reliefs of low altitude Giazza, m a. From the XV century AD, this community opened to, and probably admixed with, Italian neighboring groups [ 49 ].
On the whole, our genetic characterization indicates three main genetic patterns. Italian speaking populations show slightly higher level of within-group diversity than observed among distant European populations. The strongest signals of departure from the European genetic background can be seen among German speaking populations, while the intra-group and intra-population diversity level of Ladins fall between the former two groups. These signals seem to reflect the different demographic history of the three groups and their genetic isolation due to the mountainous environment for all groups and use of different languages from their neighbors Ladins and German speakers.
Nonetheless, the fact that the Y chromosome is a single locus transmitted by father to sons means that our inference needs further support from other genetic systems with a diverse mode of inheritance. Therefore, we thought it would be useful to repeat the analysis of intra and inter-population diversity with maternally transmitted mitochondrial DNA polymorphisms hypervariable region 1 [ 27 , 30 , 40 ]. As discussed above, the intensity of the genetic signals observed in the Alpine linguistic groups seems to comply with what is to be expected for isolated population groups characterized by a different demographic profile.
Therefore, a cause effect relationship between these two conditions and the different patterns of genetic diversity is worth taking into consideration. However, it did not escape our attention that such intensity seems to be inversely correlated with the supposed size of the founding groups, reflecting present census values see Table S8. We then decided to test the alternative hypothesis that our observations could be the result of differences in the long—term effective size among groups, without any substantial effect of genetic isolation.
To this purpose, we carried out coalescent simulations for all of our linguistic groups, with comparable levels of gene flow to those expected for non isolated groups. The distributions obtained Figure 3 are incompatible Ladins and Italians or only marginally compatible German speakers with the observed Fst values. Distributions of Fst values obtained by coalescent simulations see Materials and Methods , with vertical lines representing observed values of within group diversity: A German speaking islands; B Italians Non, Sole and Giudicarie valleys ; C Ladins continuous and Italians dashed; Fiemme, Fersina and Primiero valleys.
The genetic distinctiveness of Alpine populations can be better appreciated contextualizing our results into the body of knowledge regarding European populations. A first comparison is to be made with open populations, to see whether group under study actually depart from the continental genetic structure. As shown by Roewer et al. By contrast, the historical stratification and complexity of the peopling processes occurred in the Eastern Alps does not predict any simple relation between genetic structure and geographic distances.
In fact, average and median value of genetic distances between Alpine and open populations 0. Population acronyms are given in Table 1 and Table S4. Using the same approach Figure 5B , we observed that the genetic differentiation of Ladins and German speakers from Europeans is comparable or even greater to that observed for well known continental outliers see Table S4. In fact, the average value of Ladins 0. The signal is even stronger for the German speakers, whose average 0. However, all these values are lower than those obtained for Finns average 0.
As the final step of our study, we further extended our dataset by including other populations that have settled in great mountain range systems, from the Pyrenees 5 [ 51 ] and from South Tyrol 3 [ 27 ]. The results of the AMOVA Table 2 and Table S9 show that Y chromosome intra-group variation within human groups that have settled in mountainous environments is relatively high and statistically significant, the South Tyroleans being the only exception see below. Not unexpectedly, this is in sharp contrast with the low and insignificant diversity observed among open populations settled on plains at comparable geographic distances Focusing on mountain populations, it turns out that Alpine groups host the greatest Y chromosome among-population diversity.
Interestingly, this does not hold only for German speakers and Ladins, who are the only groups subject to both geographic and linguistic isolation, but even for Italians, who show the apparently weakest signals of genetic drift. Values in brackets refer to minimum and maximum values obtained by jacknife procedure see Table S9. Statistically insignificant values are in bold. South Tyroleans provide an exception to the high and statistically significant Y-chromosome intra-group diversity of Alpine populations.
A possible explanation for this finding comes from their particular social structure. This system typically prescribes that only one son — generally the first born — takes over the economic unit consisting of the farmstead and the attached lands and succeeds into the position of a peasant house-father, while the other sons have the option to remain in the family farm as employees or to receive an economic compensation and relocate elsewhere [ 54 , 55 , 56 , 57 ]. Therefore, this practice may favor male dispersal, increasing the probability for sons other than the first born to marry far from the original community.
Conversely, female mobility is less socially favored than in patrilocal groups. In the long term and under regimes of prevalent male mobility within the original groups, the Geschlossener Hof may lead to a pattern which is opposite to what would be expected for patrilocal groups. This is, in fact, the case of Tyrolean populations, who show only statistically significant intra-group variation for mtDNA polymorphisms 0.
If this was supported by further evidence, it would provide an example of divergent effects of socio-cultural factors on genetic diversity in populations who are closely related from a historical, linguistic and environmental point of view. In conclusion, the comparison between Y chromosomal and mitochondrial patterns of variation suggests that not only geographic factors and linguistic diversity, but also socially induced sex biased gene flow should be taken into account when studying the genetic structure of Alpine populations.
We believe this is an important avenue for any future research work which aims to shed light on the yet to be explored complexity of the genetic structure of European populations. Literature data Y chromosome 5 STRs on populations settled in mountain ranges.
Emery, Carlo (1848-1925)
Literature data on mtDNA sequences of the hypervariable region 1 on Alpine populations. Analysis of molecular variance AMOVA among linguistic groups Fst values below the diagonal, p-values above the diagonal. Haplogroup frequency distribution in populations under study acronyms as in Table 1. We are greatly indebted to all the blood donors. Research work among German speaking groups from Friuli and Veneto regions was supported from funds to GDB by the Ministero della Ricerca Scientifica Progetti di Ricerca di interesse nazionale , prot.
The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. National Center for Biotechnology Information , U. PLoS One. Published online Dec 2. George B. Dennis O'Rourke, Editor. Author information Article notes Copyright and License information Disclaimer. Competing Interests: The authors have declared that no competing interests exist.
Received Jul 26; Accepted Oct This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
Table S7: Haplogroup frequency distribution in populations under study acronyms as in Table 1.
- Italian Academies and Their Networks, 1525–1700?
- Proceedings of the Third Italian Conference on Computational Linguistics CLiC-it 2016.
- Navigation menu?
- From Local to Global!
- Navigation menu.
Abstract Great European mountain ranges have acted as barriers to gene flow for resident populations since prehistory and have offered a place for the settlement of small, and sometimes culturally diverse, communities. Introduction A considerable body of evidence shows that geographic distance is a good predictor of the genetic structure of European populations. Table 1 Populations included in the present survey. Open in a separate window. In general, bibliographies of recent works are going to be much better linked than bibliographies of primary literature and older works.
Entries with PhilPapers records have links on their titles. A green link indicates that the item is available online at least partially. This experiment has been authorized by the editors of the Stanford Encyclopedia of Philosophy. The original article and bibliography can be found here. Sign in Create an account. Syntax Advanced Search. This is an automatically generated and experimental page If everything goes well, this page should display the bibliography of the aforementioned article as it appears in the Stanford Encyclopedia of Philosophy, but with links added to PhilPapers records and Google Scholar for your convenience.