Genetic discovery of an early medieval Alpine population

In 2001/02 the municipal Archeology of Hall accomplished successful excavations of an early Middle Age cemetery (dated between the 5th /6 th and 12th /13 th centuries Anno Domini) in Volders (Tyrol) under the auspices of the Institute of Archaeologies (University of Innsbruck). This cemetery represents one of the largest and most ancient series of human remains in Tyrol with 144 well preserved complete human skeletons being unearthed. Of great scientific interest is the burial situation in a tight area and the orientation of the skeletons with a prevalent restriction to East-West and only few North-South directions. There is a heterogeneous pattern of the sparse grave goods and the dress elements which perhaps originates from different social structures and the religious denomination of the buried individuals. Since prehistoric times Volders was a major settlement in the Inn Valley with more than 450 cremation burials and thrived during the medieval ages by mining activities. Exhaustive analyses were performed on the remains utilizing historical and archaeological methods in order to characterize the familial organization and the social structure of this early medieval population. However, many questions remain unanswered. Because of their excellent preservation state the historical remains would lend themselves perfectly for the application of biomolecular methods to gain increased insight for a better interpretation of the findings. This proposed project demonstrates the scope and importance of genetic analysis for a) the determination of the gender and potential kinship between the buried individuals to explain social classification, demography and general living conditions, b) the characterization of physical traits (e.g. eye and skin color) and medically relevant genetic dispositions, which may give an insight into the social environment (migration, family grave sites) and potential indications for an epidemic cause of death and c) the characterization of the genetic structure of this early medieval Alpine population by haplotypic markers of mitochondrial and Y-chromosomal DNA that would also allow the discovery of existing direct genetic relationships between the early medieval ancestors and present day generations. The Institute of Legal Medicine of the Medical University Innsbruck has repeatedly been assigned to handle difficult cases such as the identification of the Russian Tsar-family, Schiller, Mozart, the identification of the 2004 Tsunami victims of Sri Lanka, and of the victims of the 1973 Pinochet regime. The present project is planned in collaboration with the Institute of Archaeologies of the University Innsbruck and the "Instituto de Medicina Legal, Universidade de Santiago de Compostela".

The scope of the research project Genetic discovery of an early medieval Alpine population included the development and optimisation of laboratory methods to yield useful DNA results from ancient samples. Human skeletal remains recovered from a medieval cemetery (5th/6th and 12th/13th centuries), were successfully characterised using genetic analyses. The improved DNA methods were also applied in other studies and stimulated human identification cases such as the investigations on the missing Mexican students in autumn 2014. Taking advantage of the improved methods we were able to isolate intact DNA from a large portion of a total of 141 recovered sets of remains from the medieval cemetery in Volders (Tyrol, Austria). Molecular genetic analyses using mitochondrial DNA (mtDNA) and Y-chromosomal markers were both successful. Both are inherited from one parent only. MtDNA is passed along the maternal line, while the investigated Y-chromosomal DNA is inherited from fathers to their sons rendering both genomes useful for population genetic analyses. The results of these as well as those from a medically relevant nuclear DNA marker suggested middle-European provenance of the buried individuals. Furthermore, externally visible characteristics (hair and eye colour) as well as the sex of the remains were investigated using DNA. Genetic sexing unveiled surprising results as morphological sexing led to discrepant findings in 27% of the samples. Repeated morphological inspection yielded confirmatory results to genetic sexing in the majority of cases, thus highlighting the relevance of molecular genetic methods. The findings in this project were also essential to other, parallel identification cases. Motherhood of Agnes von Waiblingen to Adalbert, son of her husband Leopold III (+1136), was in doubt, but could be confirmed using DNA testing. In a different case the project leader was consigned to unravel the mystery of the Dark Countess. This project involved the genetic identification of female skeletal remains that were buried under the name of Sophia Botta. Rumour but also some historic evidence suggested that the remains could belong to French princess Marie-Terese, who might have been secretly exchanged during a journey to Vienna. Yet, mtDNA analyses of the remains yielded different results compared to the mtDNA of the French Royal family, putting this myth to an end. A number of additional collaborations were successfully completed during the project period that used molecular genetic methods to characterise or identify historic persons. Among these, the identification of the remains of King Richard III (+1485) stands in the forefront. This case represents the oldest human identification ever made by DNA.