Inferring genetic origins and phenotypic traits of George Bähr, the architect of the Dresden Frauenkirche

Alexander Peltzer, Alissa Mittnik, Chuan-Chao Wang, Tristan Begg, Cosimo Posth, Kay Nieselt, Johannes Krause
2018 Scientific Reports  
For historic individuals, the outward appearance and other phenotypic characteristics remain often non-resolved. Unfortunately, images or detailed written sources are only scarcely available in many cases. Attempts to study historic individuals with genetic data so far focused on hypervariable regions of mitochondrial DNA and to some extent on complete mitochondrial genomes. To elucidate the potential of in-solution based genome-wide SNP capture methods -as now widely applied in population
more » ... ics -we extracted DNA from the 17th century remains of George Bähr, the architect of the Dresdner Frauenkirche. We were able to identify the remains to be of male origin, showing sufficient DNA damage, deriving from a single person and being thus likely authentic. Furthermore, we were able to show that George Bähr had light skin pigmentation and most likely brown eyes. His genomic DNA furthermore points to a Central European origin. We see this analysis as an example to demonstrate the prospects that new in-solution SNP capture methods can provide for historic cases of forensic interest, using methods well established in ancient DNA (aDNA) research and population genetics. Advances in modern molecular biology methods and the resulting possibility of extracting genetic information even from ancient specimens, has led to various attempts to reconstruct the genetic legacy of historic individuals. One of the first attempts was made in 2007 on Sven Estridsen, the last Danish Viking king 1 , who died in 1074 AD. Other attempts in reconstructing the genetic legacy of historic individuals include the cases of Francesco Petrarca 2 , the identification of the family of Tsar Nicholas II of Russia 3 , the famous astronomer Nicolas Copernicus 4 , King Richard III of England 5 , the Dark Countess 6 , a proposed blood sample from King Louis XVI king of France 7 and most recently the Belgian King Albert I 8 . In all of these cases, (except for King Louis XVI, where an Exome and shallow WGS approach was performed), either partial mitochondrial information, such as the hypervariable sequence HVS-I, HVS-II or D-Loop of the mitochondria, or a full mitochondral genome were sequenced. While this is sufficient for investigating maternal ancestry lines, it provides little resolution on genetic origin. Foremost, when focusing on mitochondrial data only, there is no information on the paternal ancestry obtained. Additionally, the prediction of disease risks or phenotypic traits such as hair and eye color are not possible when only mitochondrial information is available. While the availability of cheaper sequencing methods and efficient mitochondrial capture techniques enabled researchers to move from targeting control regions to whole mitochondria, the reconstruction of a full high coverage human genome from ancient human remains via high throughput sequencing still remains costly 9 . In population genetics, where large cohorts of individuals are studied, the cost pressure urged researchers to move on to more cost-efficient and large-scale methods. This has led to the development of specialized in-solution capture methods that target a pre-defined set of SNP positions, as introduced by Haak et al. 10, 11 . In population genetics of ancient human individuals, these methods are now widely applied to recover population specific diagnostic markers. While these approaches target up to 3.7 M SNP positions 12 aiming at solely retrieving population diagnostic SNPs in a previously unrivaled resolution, the set of Published: xx xx xxxx OPEN 2 Scientific REPORTS | (2018) 8:2115 |
doi:10.1038/s41598-018-20180-z pmid:29391530 pmcid:PMC5794802 fatcat:3ratjy3hvzam5b6tv543dkekh4