High-Resolution Analysis of Y-chromosome Variability in Selected Regions of the Tyrolean Alps (Austria)

Influences of Topology and Demographic History on the Genetic Differentiation

The paternally inherited Y-chromosome has an extensive track record in reconstructing various aspects of human population history, for example large scale patterns of migration. Y-chromosome short tandem repeats (Y-STRs) and single nucleotide polymorphisms (Y-SNPs) can be used for reconstructing male lineages to address phylogenetical, historical and genealogical questions. A number of Y-chromosome data exist for European populations yielding a rough genetic landscape of the continent. However, there is a lack of high-resolution Y-chromosome data concerning the Alps. This area is of specific interest, because mountainous regions form complex patterns of barriers within the landscape focussing human settlements and routes of migration to the valleys and mountain passes. Even adjacent valleys can display strikingly different levels of isolation, one with an ancient population history due to low genetic exchange and the other one forming a transit route with a proposed higher level of admixture. In the case of the Tyrolean Alps numerous archaeological and historical records demonstrate these facts. A high resolution sampling is mandatory to test whether the above mentioned geographic features are mirrored in the genetic data of the resident population or not.

Y-chromosomal history of Tyrol

In order to gain insight into possible fine scale differences of Y-chromosomal variability more than 3.800 blood samples from males as well as their personal data (e.g. surname, place of birth) were collected in different localities in Tyrol (Austria) in the course of routine blood donation campaigns. The localities were selected to encompass areas of high and low geographical and demographical isolation and of different historical background. The obtained DNA samples are analyzed by a set of 17 Y-STR loci and 19 different Y-chromosomal SNPs. The Y-chromosome data are interpreted in the context of geographic and historic features of the particular sampling areas in order to understand the importance of historical events or demographic movements on the genetic landscape of current human populations within the investigation area.


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Berger,B.; Niederstätter,H.; Erhart,D.; Gassner,C.; Schennach,H.; Parson,W.;
Niederstätter,H.; Berger,B.; Erhart,D.; Willuweit,S.; Geppert,M.; Gassner,C.; Schennach,H.; Parson,W.; Roewer,L.;
Niederstätter,H.; Rampl,G.; Erhart,D.; Pitterl,F.; Oberacher,H.; Neuhuber,F.; Hausner,I.; Gassner,C.; Schennach,H.; Berger,B.; Parson,W.;
Trynova,E.G.; Tsitovich,T.N.; Vylegzhanina,E.Y.; Bandurenko,N.A.; Parson,W.;
Hedman,M.; Brandstätter,A.; Pimenoff,V.; Sistonen,P.; Palo,J.U.; Parson,W.; Sajantila,A.;
Brion,M.; Dupuy,B.M.; Heinrich,M.; Hohoff,C.; Hoste,B.; Ludes,B.; Mevag,B.; Morling,N.; Niederstätter,H.; Parson,W.; Sanchez,J.; Bender,K.; Siebert,N.; Thacker,C.; Vide,C.; Carracedo,A.;
Sanchez,J.J.; Brion,M.; Parson,W.; Blanco-Verea,A.J.; Borsting,C.; Lareu,M.; Niederstätter,H.; Oberacher,H.; Morling,N.; Carracedo,A.;
Parson,W.; Niederstätter,H.; Brandstätter,A.; Berger,B.;
Roewer,L.; Krawczak,M.; Willuweit,S.; Nagy,M.; Alves,C.; Amorim,A.; Anslinger,K.; Augustin,C.; Betz,A.; Bosch,E.; Caglia,A.; Carracedo,A.; Corach,D.; Dekairelle,A.; Dobosz,T.; Dupuy,B.M.; Furedi,S.; Gehrig,C.; Gusmao,L.; Henke,J.; Henke,L.; Hidding,M.; Hohoff,C.; Hoste,B.; Jobling,M.A.; Kargel,H.J.; De Knijff,P.; Lessig,R.; Liebeherr,E.; Lorente,M.; Martinez-Jarreta,B.; Nievas,P.; Nowak,M.; Parson,W.; Pascali,V.L.; Penacino,G.; Ploski,R.; Rolf,B.; Sala,A.; Schmidt,U.; Schmitt,C.; Schneider,P.M.; Szibor,R.; Teifel-Greding,J.; Kayser,M.;
Carracedo,A.; Beckmann,A.; Bengs,A.; Brinkmann,B.; Caglia,A.; Capelli,C.; Gill,P.; Gusmao,L.; Hagelberg,C.; Hohoff,C.; Hoste,B.; Kihlgren,A.; Kloosterman,A.; Myhre,Dupuy B.; Morling,N.; O'Donnell,G.; Parson,W.; Phillips,C.; Pouwels,M.; Scheithauer,R.; Schmitter,H.; Schneider,P.M.; Schumm,J.; Skitsa,I.; Stradmann-Bellinghausen,B.; Stuart,M.; Syndercombe Court; Vide,C.;
Roewer,L.; Kayser,M.; De Knijff,P.; Anslinger,K.; Betz,A.; Caglia,A.; Corach,D.; Furedi,S.; Henke,L.; Hidding,M.; Kargel,H.J.; Lessig,R.; Nagy,M.; Pascali,V.L.; Parson,W.; Rolf,B.; Schmitt,C.; Szibor,R.; Teifel-Greding,J.; Krawczak,M.;
Kayser,M.; Caglia,A.; Corach,D.; Fretwell,N.; Gehrig,C.; Graziosi,G.; Heidorn,F.; Herrmann,S.; Herzog,B.; Hidding,M.; Honda,K.; Jobling,M.; Krawczak,M.; Leim,K.; Meuser,S.; Meyer,E.; Oesterreich,W.; Pandya,A.; Parson,W.; Penacino,G.; Perez-Lezaun,A.; Piccinini,A.; Prinz,M.; Schmitt,C.; Roewer,L.;
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