Pasture Names with Romance and Slavic Roots Facilitate Dissection of Y Chromosome Variation in an Exclusively German-Speaking Alpine Region

Abstract

The small alpine district of East Tyrol (Austria) has an exceptional demographic history. It was contemporaneously inhabited by members of the Romance, the Slavic and the Germanic language groups for centuries. Since the Late Middle Ages, however, the population of the principally agrarian-oriented area is solely Germanic speaking. Historic facts about East Tyrol's colonization are rare, but spatial density-distribution analysis based on the etymology of place-names has facilitated accurate spatial mapping of the various language groups' former settlement regions. To test for present-day Y chromosome population substructure, molecular genetic data were compared to the information attained by the linguistic analysis of pasture names. The linguistic data were used for subdividing East Tyrol into two regions of former Romance (A) and Slavic (B) settlement. Samples from 270 East Tyrolean men were genotyped for 17 Y-chromosomal microsatellites (Y-STRs) and 27 single nucleotide polymorphisms (Y-SNPs). Analysis of the probands' surnames revealed no evidence for spatial genetic structuring. Also, spatial autocorrelation analysis did not indicate significant correlation between genetic (Y-STR haplotypes) and geographic distance. Haplogroup R-M17 chromosomes, however, were absent in region A, but constituted one of the most frequent haplogroups in region B. The R-M343 (R1b) clade showed a marked and complementary frequency distribution pattern in these two regions. To further test East Tyrol's modern Y-chromosomal landscape for geographic patterning attributable to the early history of settlement in this alpine area, principal coordinates analysis was performed. The Y-STR haplotypes from region A clearly clustered with those of Romance reference populations and the samples from region B matched best with Germanic speaking reference populations. The combined use of onomastic and molecular genetic data revealed and mapped the marked structuring of the distribution of Y chromosomes in an alpine region that has been culturally homogeneous for centuries.

Expected Shannon Entropy and Shannon Differentiation between Subpopulations for Neutral Genes under the Finite Island Model

“…Shannon entropy and mutual information have more recently been used to analyze a wide variety of genetic processes and patterns [ 12 , 13 ]. Examples cover a range of taxa, including viruses [ 21 ], bacteria [ 22 ], protist parasites [ 23 ], mosses [ 24 ], higher plants [ 25 – 31 ], invertebrates [ 14 , 32 ] and vertebrates including humans [ 33 , 34 , 35 ]. Many concentrate on microsatellites [ 12 ], but they have also assessed AFLPs [ 29 ], and single-nucleotide polymorphisms [ 14 ].…”

Demographic Histories, Isolation and Social Factors as Determinants of the Genetic Structure of Alpine Linguistic Groups

“…Such a target requires the simultaneous investigation of distinct linguistic groups and, ideally, the analysis of genetic systems with different modes of evolution and transmission. Unfortunately, the population genetic studies that have been carried out so far are scanty and most of them only focused on a limited number of populations or single groups [ 26 , 27 , 28 , 29 , 30 ].…”

Traces of forgotten historical events in mountain communities in Central Italy: A genetic insight

“…The origin of the haplotypes belonging to the Q haplogroup in Jenne was identified using a reduced median network based on the Y‐STR haplotypes of Western Europe, the Middle East, and Asia (Adams et al, ; Balanovsky et al, ; Dulik et al, ; Haber et al, ; Niederstätter et al, ; Schurr et al, ; Zalloua et al, ). Because of their leading presence in North America (O'Rourke and Raff, ), Alaskan haplotypes were added to the analysis to maximize the worldwide representation of this haplogroup.…”