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Genetic identification of putative remains of the famous astronomer Nicolaus Copernicus
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
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2009 (English)In: Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, E-ISSN 1091-6490, Vol. 106, no 30, 12279-12282 p.Article in journal (Refereed) Published
Abstract [en]

We report the results of mitochondrial and nuclear DNA analyses of skeletal remains exhumed in 2005 at Frombork Cathedral in Poland, that are thought to be those of Nicolaus Copernicus (1473-1543). The analyzed bone remains were found close to the altar Nicolaus Copernicus was responsible for during his tenure as priest. The mitochondrial DNA (mtDNA) profiles from 3 upper molars and the femurs were identical, suggesting that the remains originate from the same individual. Identical mtDNA profiles were also determined in 2 hairs discovered in a calendar now exhibited at Museum Gustavianum in Uppsala, Sweden. This calendar was the property of Nicolaus Copernicus for much of his life. These findings, together with anthropological data, support the identification of the human remains found in Frombork Cathedral as those of Nicolaus Copernicus. Up-to-now the particular mtDNA haplotype has been observed only 3 times in Germany and once in Denmark. Moreover, Y-chromosomal and autosomal short tandem repeat markers were analyzed in one of the tooth samples, that was much better preserved than other parts of the skeleton. Molecular sex determination revealed that the skeleton is from a male individual, and this result is consistent with morphological investigations. The minimal Y-chromosomal haplotype determined in the putative remains of Nicolaus Copernicus has been observed previously in many countries, including Austria, Germany, Poland, and the Czech Republic. Finally, an analysis of the SNP located in the HERC2 gene revealed the C/C genotype that is predominant in blue-eyed humans, suggesting that Copernicus may have had a light iris color.

Place, publisher, year, edition, pages
2009. Vol. 106, no 30, 12279-12282 p.
Keyword [en]
eye-color marker, hairs, human remains, identification, mitochondrial and nuclear DNA
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-107559DOI: 10.1073/pnas.0901848106ISI: 000268440200016PubMedID: 19584252OAI: oai:DiVA.org:uu-107559DiVA: diva2:231706
Available from: 2009-08-17 Created: 2009-08-17 Last updated: 2016-04-19
In thesis
1. Application of Mitochondrial DNA Analysis in Contemporary and Historical Samples
Open this publication in new window or tab >>Application of Mitochondrial DNA Analysis in Contemporary and Historical Samples
2013 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

The mitochondrion is a tiny organelle that is the power supplier of the cell and vital to the functioning of the body organs. Additionally it contains a small circular genome of about 16 kb, present in many copies which makes the mitochondrial DNA more viable than nuclear DNA. Mitochondrial DNA is also maternally inherited and thus provides a direct link to maternal relatives. These two properties are of particular use for forensic samples, which only contain limited or degraded amounts of DNA, and for historical samples (ancient DNA). This thesis presents work on the mitochondrial DNA in the hypervariable regions (HV) I and II, in both contemporary and historical samples. Forensic genetics makes use of mitochondrial DNA analysis in court as circumstantial evidence, and population databases are used for the calculation of evidence value. Population samples (299) across Sweden have been analysed in order to enrich the EDNAP mtDNA database (EMPOP) (paper I). The application of mitochondrial DNA analysis allowed for analysis of historical skeletal remains: Copernicus, 1473-1543 (paper II), Karin Göring, 1888-1931 (paper III) and Medieval bones, 880-1000 AD, from a mass grave found in Sigtuna, Sweden (paper IV). The thesis also includes analyses of bones and teeth from the shipwrecked crew of the Vasa warship, 1628, samples from the Vasa museum, Stockholm, Sweden (paper V). Overall, the varying age of the samples and the different conservation environments (soil and water) accounted for variations in quality, but still allowed for successful DNA analysis.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2013. 62 p.
Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 1651-6206 ; 950
Forensic genetics, Mitochondrial DNA, HVI/HVII, Population database, Haplotype, Haplogroup, Ancient DNA, Historical DNA samples, skeletal remains, Vasa museum, Medieval samples, Copernicus, Göring
National Category
Natural Sciences
Research subject
urn:nbn:se:uu:diva-209970 (URN)978-91-554-8799-7 (ISBN)
Public defence
2013-12-14, Auditorium Minus, Gustavianum, Akademigatan 3, 75310 Uppsala, 13:00 (English)
Available from: 2013-11-22 Created: 2013-10-29 Last updated: 2014-01-23

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Allen, Marie
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Department of Genetics and PathologyMedicinsk genetik och genomik
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