FWF-Project: Genetic Discovery of an Early Medieval Alpine Population

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.

Peer reviewed publications

  1. Bauer CM, Niederstätter H, McGlynn G, Stadler H, Parson W: Comparison of morphological and molecular genetic sex-typing on mediaeval human skeletal remains. Forensic Science International Genetics 2013,7(6):581-586; doi.org/10.1016/j.fsigen.2013.05.005.
  2. Bauer CM, Bodner M, Niederstätter H, Niederwieser D, Huber G, Hatzer-Grubwieser P, Holubar K, Parson W: Molecular genetic investigations on Austria's patron saint Leopold III. Forensic Science International Genetics 2013;7(2):313-315; doi.org/10.1016/j.fsigen.2012.10.012.
  3. Bodner M, Iuvaro A, Strobl C, Nagl S, Huber G, Pelotti S, Pettener D, Luiselli D, Parson W: Helena, the hidden beauty: Resolving the most common west Eurasian mtDNA control region haplotype by massively parallel sequencing an Italian population sample. Forensic Science International Genetics 2014 (ePub ahead of print); doi.org/10.1016/j.fsigen.2014.09.012.
  4. Eduardoff M, Huber G, Bayer B, Schmid D, Anslinger K, Gobel T, Zimmermann B, Schneider PM, Röck AW, Parson W: Mass spectrometric base composition profiling: Implications for forensic mtDNA databasing. Forensic Science International Genetics 2013;7(6):587-592; doi.org/10.1016/j.fsigen.2013.05.007.
  5. Jankova-Ajanovska R, Zimmermann B, Huber G, Röck AW, Bodner M, Jakovski Z, Janeska B, Duma A, Parson W: Mitochondrial DNA control region analysis of three ethnic groups in the Republic of Macedonia. Forensic Science International Genetics 2014;13:1-2; doi.org/10.1016/j.fsigen.2014.06.013.
  6. Just RS, Scheible MK, Fast SA, Sturk-Andreaggi K, Higginbotham JL, Lyons EA, Bush JM, Peck MA, Ring JD, Diegoli TM, Röck AW, Huber GE, Nagl S, Strobl C, Zimmermann B, Parson W, Irwin JA: Development of forensic-quality full mtGenome haplotypes: Success rates with low template specimens. Forensic Science International Genetics 2014;10:73-79; doi.org/10.1016/j.fsigen.2014.01.010.
  7. King TE, Fortes GG, Balaresque P, Thomas MG, Balding D, Delser PM, Neumann R, Parson W, Knapp M, Walsh S, Tonasso L, Holt J, Kayser M, Appleby J, Forster P, Ekserdjian D, Hofreiter M, Schurer K: Identification of the remains of king Richard III. Nature Communications 2014;5:5631; DOI:10.1038/ncomms6631.
  8. Parson, W. Strobl C, Huber G, Zimmermann B, Gomes SM, Souto L, Fendt L, Delport R, Langit R, Wootton S, Lagace R, Irwin J: Evaluation of next generation mtGenome sequencing using the Ion Torrent Personal Genome Machine (PGM). Forensic Science International Genetics 2013;7:543–549; doi.org/10.1016/j.fsigen.2013.06.003; Reprint:7(6):632-639.
  9. Parson W, Gusmao L, Hares DR, Irwin JA, Mayr WR, Morling N, Pokorak E, Prinz M, Salas A, Schneider PM, Parsons TJ: DNA commission of the international society for forensic genetics: Revised and extended guidelines for mitochondrial DNA typing. Forensic Science International Genetics 2014;13:134-142; doi.org/10.1016/j.fsigen.2014.07.010.
  10. Parson W, Huber G, Moreno L, Madel MB, Brandhagen MD, Nagl S, Xavier C, Eduardoff M, Callaghan TC, Irwin JA: Massively parallel sequencing of complete mitochondrial genomes from hair shaft samples. Forensic Science International Genetics 2014 (ePub ahead of print); doi.org/10.1016/j.fsigen.2014.11.009.
  11. Zimmermann B, Röck AW, Dür A, Parson W: Improved visibility of character conflicts in quasi-median networks with the empop network software. Croatian Medical Journal 2014;55:115-120; doi:10.3325/cmj.2014.55.115.

Prizes, awards

Christiane Maria Bauer, MSc, PhD performed her PhD thesis in the framework of this FWF project and received the Dr. Maria-Schaumayer award for her work.

FWF Austrian Science Fund

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