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Application of Mitochondrial DNA Analysis in Contemporary and Historical Samples
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Genomics. Köpenhamns universitet, University of Copenhagen. (Allen)
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.
Series
Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 1651-6206 ; 950
Keyword [en]
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
Genetics
Identifiers
URN: urn:nbn:se:uu:diva-209970ISBN: 978-91-554-8799-7 (print)OAI: oai:DiVA.org:uu-209970DiVA: diva2:660275
Public defence
2013-12-14, Auditorium Minus, Gustavianum, Akademigatan 3, 75310 Uppsala, 13:00 (English)
Opponent
Supervisors
Available from: 2013-11-22 Created: 2013-10-29 Last updated: 2014-01-23
List of papers
1. Mitochondrial DNA analysis of Swedish population samples
Open this publication in new window or tab >>Mitochondrial DNA analysis of Swedish population samples
2013 (English)In: International journal of legal medicine (Print), ISSN 0937-9827, E-ISSN 1437-1596, Vol. 127, no 6, 1097-1099 p.Article in journal (Refereed) Published
Abstract [en]

As a contribution to the geographic coverage of EMPOP, currently the best available forensic mitochondrial DNA (mtDNA) database, a total of 299 Swedish individuals were analysed by sequencing of the first and second hypervariable regions of the mtDNA genome. In this sample set, a total of 179 different haplotypes were detected. The genetic diversity was estimated to be 0.9895 (±0.0023), and the random match probability was 1.39 %. The most abundant haplogroups were HV (including its subhaplogroups H and V) with a frequency of 46.5 %, followed by haplogroup U (including its subhaplogroup K) at 27.8 %, haplogroup T at 10.0 % and haplogroup J at 7.0 %, a distribution that is consistent with previous observations in other European populations.

Keyword
Forensic DNA database, Haplogroup, Haplotype, mtDNA, Northern Europe, Sweden
National Category
Biological Sciences Genetics
Identifiers
urn:nbn:se:uu:diva-209955 (URN)10.1007/s00414-013-0908-6 (DOI)000326190200006 ()24077990 (PubMedID)
Available from: 2013-10-28 Created: 2013-10-28 Last updated: 2017-12-06
2. Genetic identification of putative remains of the famous astronomer Nicolaus Copernicus
Open this publication in new window or tab >>Genetic identification of putative remains of the famous astronomer Nicolaus Copernicus
Show others...
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.

Keyword
eye-color marker, hairs, human remains, identification, mitochondrial and nuclear DNA
National Category
Medical and Health Sciences
Identifiers
urn:nbn:se:uu:diva-107559 (URN)10.1073/pnas.0901848106 (DOI)000268440200016 ()19584252 (PubMedID)
Available from: 2009-08-17 Created: 2009-08-17 Last updated: 2017-12-13
3. An Analysis of the Alleged Skeletal Remains of Carin Göring
Open this publication in new window or tab >>An Analysis of the Alleged Skeletal Remains of Carin Göring
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2012 (English)In: PLoS ONE, ISSN 1932-6203, E-ISSN 1932-6203, Vol. 7, no 12, e44366- p.Article in journal (Refereed) Published
Abstract [en]

In 1991, treasure hunters found skeletal remains in an area close to the destroyed country residence of former Nazi leader Hermann Göring in northeastern Berlin. The remains, which were believed to belong to Carin Göring, who was buried at the site, were examined to determine whether it was possible to make a positive identification. The anthropological analysis showed that the remains come from an adult woman. The DNA analysis of several bone elements showed female sex, and a reference sample from Carin's son revealed mtDNA sequences identical to the remains. The profile has one nucleotide difference from the Cambridge reference sequence (rCRS), the common variant 263G. A database search resulted in a frequency of this mtDNA sequence of about 10% out of more than 7,000 European haplotypes. The mtDNA sequence found in the ulna, the cranium and the reference sample is, thus, very common among Europeans. Therefore, nuclear DNA analysis was attempted. The remains as well as a sample from Carin's son were successfully analysed for the three nuclear markers TH01, D7S820 and D8S1179. The nuclear DNA analysis of the two samples revealed one shared allele for each of the three markers, supporting a mother and son relationship. This genetic information together with anthropological and historical files provides an additional piece of circumstantial evidence in our efforts to identify the remains of Carin Göring.

National Category
Medical and Health Sciences
Identifiers
urn:nbn:se:uu:diva-192064 (URN)10.1371/journal.pone.0044366 (DOI)000312694300001 ()
Available from: 2013-01-17 Created: 2013-01-15 Last updated: 2017-12-06Bibliographically approved
4. Mitochondrial DNA analysis of a Swedish Medieval mass grave
Open this publication in new window or tab >>Mitochondrial DNA analysis of a Swedish Medieval mass grave
(English)Manuscript (preprint) (Other academic)
National Category
Natural Sciences
Research subject
Genetics
Identifiers
urn:nbn:se:uu:diva-209964 (URN)
Available from: 2013-10-29 Created: 2013-10-29 Last updated: 2014-01-23Bibliographically approved
5. Mitochondrial DNA analysis of the human remains found on the Vasa warship
Open this publication in new window or tab >>Mitochondrial DNA analysis of the human remains found on the Vasa warship
(English)Manuscript (preprint) (Other academic)
National Category
Natural Sciences
Research subject
Genetics
Identifiers
urn:nbn:se:uu:diva-209966 (URN)
Available from: 2013-10-29 Created: 2013-10-29 Last updated: 2014-01-23Bibliographically approved

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