Genetic identification of putative remains of the famous astronomer Nicolaus Copernicus

Bogdanowicz, Wiesław; Allen, Marie; Branicki, Wojciech; Lembring, Maria; Gajewska, Marta; Kupiec, Tomasz

doi:10.1073/pnas.0901848106

Cited by 50 publications

(33 citation statements)

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“…16,26,32,39 Analysis of the HERC2-OCA2 region enables prediction of extreme (blue or brown) eye colours from genetic data with a reasonably high accuracy and has already been applied in real cases concerning identification of human remains. 40,41 Several other genes have been found to contribute to a lesser degree to the continuous variation in iris colour from light blue through intermediate (green and hazel) to dark brown, which is observed in humans. 13,14,18,19,25 As the effect of multiple genes on determination of a phenotype may not be limited to their additive function, 42,43 it is obvious that epistatic effects should also be taken into account when studying the genetics of a polygenic trait such as eye colour.…”

Section: Discussionmentioning

confidence: 99%

Gene–gene interactions contribute to eye colour variation in humans

et al. 2011

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Prediction of phenotypes from genetic data is considered to be the first practical application of data gained from association studies, with potential importance for medicine and the forensic sciences. Multiple genes and polymorphisms have been found to be associated with variation in human pigmentation. Their analysis enables prediction of blue and brown eye colour with a reasonably high accuracy. More accurate prediction, especially in the case of intermediate eye colours, may require better understanding of gene-gene interactions affecting this polygenic trait. Using multifactor dimensionality reduction and logistic regression methods, a study of gene-gene interactions was conducted based on variation in 11 known pigmentation genes examined in a cohort of 718 individuals of European descent. The study revealed significant interactions of a redundant character between the HERC2 and OCA2 genes affecting determination of hazel eye colour and between HERC2 and SLC24A4 affecting determination of blue eye colour. Our research indicates interactive effects of a synergistic character between HERC2 and OCA2, and also provides evidence for a novel strong synergistic interaction between HERC2 and TYRP1, both affecting determination of green eye colour.

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Section: Discussionmentioning

confidence: 99%

Gene–gene interactions contribute to eye colour variation in humans

et al. 2011

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“…This was done successfully for the identification of the Polish astronomer Nicolaus Copernicus. 17 The most convincing validation to identify the donor of particular remains is the analysis of the DNA of living relatives of the presumptive donor. This will also detect DNA contamination.…”

Section: Introductionmentioning

confidence: 99%

Genetic genealogy reveals true Y haplogroup of House of Bourbon contradicting recent identification of the presumed remains of two French Kings

et al. 2013

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Genetic analysis strongly increases the opportunity to identify skeletal remains or other biological samples from historical figures. However, validation of this identification is essential and should be done by DNA typing of living relatives. Based on the similarity of a limited set of Y-STRs, a blood sample and a head were recently identified as those belonging respectively to King Louis XVI and his paternal ancestor King Henry IV. Here, we collected DNA samples from three living males of the House of Bourbon to validate the since then controversial identification of these remains. The three living relatives revealed the Bourbon's Y-chromosomal variant on a high phylogenetic resolution for several members of the lineage between Henry IV and Louis XVI. This 'true' Bourbon's variant is different from the published Y-STR profiles of the blood as well as of the head. The earlier identifications of these samples can therefore not be validated. Moreover, matrilineal genealogical data revealed that the published mtDNA sequence of the head was also different from the one of a series of relatives. This therefore leads to the conclusion that the analyzed samples were not from the French kings. Our study once again demonstrated that in order to realize an accurate genetic identification of historical remains DNA typing of living persons, who are paternally or maternally related with the presumed donor of the samples, is required.

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“…Whether they tried more than one book we have not learned, but in the Calendarium they located 9 hairs, of which 4 were suitable for extracting DNA under carefully controlled sterile conditions. Two of the hairs match the DNA segments from a well-preserved cranial tooth, according to Bogdanowicz et al (1). Their research is a wonderful denouement for the Copernican Grave Mystery.…”

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“…The Calendarium plays an unexpected and critical role in the article by Bogdanowicz et al (1). But we need a little more background.…”

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The Copernicus grave mystery

Gingerich

2009

Proc. Natl. Acad. Sci. U.S.A.

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Genetic identification of putative remains of the famous astronomer Nicolaus Copernicus

Abstract: eye-color marker ͉ hairs ͉ human remains ͉ identification ͉ mitochondrial and nuclear DNA

Cited by 50 publications

References 26 publications

Gene–gene interactions contribute to eye colour variation in humans

Gene–gene interactions contribute to eye colour variation in humans

Genetic genealogy reveals true Y haplogroup of House of Bourbon contradicting recent identification of the presumed remains of two French Kings

The Copernicus grave mystery

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