PDA

View Full Version : Y-Chromosome, mtDNA, and Eye Color of Copernicus Identified (Haplogroup H)



Oski
Thursday, July 9th, 2009, 12:08 AM
http://i144.photobucket.com/albums/r181/chuckporterfield/copernicus.jpg
Y chromosome, mtDNA, and eye color of Nicolaus Copernicus
The identification of Copernicus was made possible by typing DNA from hair found in a book he owned and matching it with DNA from his putative remains.

Copernicus belonged to mtDNA haplogroup H:

In addition to the hypervariable region analysis, 16 haplogroup informative SNP positions were examined (709G, 1719G, 1811A, 3010G, 6365T, 6776T, 7028C, 8251G, 8697G, 9055G,11251A, 12372G, 13708G, 14766C, 14798T, and 15904C). Analysis of these haplogroup informative mtDNA polymorphisms indicates that the examined individual belongs to haplogroup H, which is the most frequent of the 6 European-specific haplogroups.

His Y-STR haplotype was also determined:

Male sex was further confirmed by the analysis of 16 STR loci located on Y chromosome included in the Yfiler amplification kit (Applied Biosystems): DYS456– 16; DYS389I– 13; DYS390– 23; DYS389II– 29; DYS458– 19; DYS19– 14; DYS385– 11, 13; DYS393– 13; DYS391– 11; DYS439– 12; DYS635– 23; DYS392–13; Y GATA H4– 12; DYS437– 15; DYS438– 12; DYS448– 19.

...

In the case of the paternal lineage, the search of the YHRD Y chromosome population database (19) did not reveal the haplotype found in the examined human remains among the 2,595 complete haplotypes comprising the Eurasian metapopulation
and among all of the 10,243 complete haplotypes included in the database originating from all over the world. The YHRD database size varies significantly based on the number and character of loci that are included in the search profile. By limiting their
number to the core set called the minimal haplotype (most often analyzed Y-STR loci) the searchable data in the YHRD database were significantly extended, giving the total number of 63,369 haplotypes. In this larger dataset, a minimal Y-chromosomal haplotype, derived from the putative Copernicus remains, was present 47 times, 44 times in a European metapopulation consisting of 31,762 minimal Y-chromosome haplotypes. The same haplotype has been found in individuals from many countries, including Austria, Germany, Poland, and the Czech Republic.

Copernicus' haplotype places him almost certainly in haplogroup R1b. While this haplogroup has a very wide distribution, it is the case that it is one of the haplogroups which differentiate Germans from Poles. So, while this is insufficient to ascertain the ethnic origin of Copernicus' patrilineage, it certainly suggests a higher probability for it being of ethnic German rather than Polish origin.

The researchers also estimated the astronomer's eye color:

Analysis of the SNP position located in the HERC2 revealed the homozygous C/C genotype, which is the predominant genotype among blue or gray-eyed humans (≈80%). This genotype is rare among people with dark iris coloration (8, 20, 21). The result indicates that Copernicus might have had light iris color, a finding that is rather unexpected given that he is usually shown in portraits with dark eyes. Nevertheless, it is difficult to unambiguously interpret this finding because, although it is significantly less probable, the genotype C/C in rs12913832 can be associated with dark (but not brown/black) irises.

The frequency of blue eyes for the C/C genotype is from a recent study by Polish researchers, so the odds are fairly good that the inference of a non-dark eyed phenotype for Copernicus is genuine.

UPDATE: The Spittoon's coverage of this study erroneously claims that Copernicus:

is best known for being the first to propose that the Earth circles the sun, and not the other way around.

In fact, the first to propose the heliocentric theory was Aristarchus of Samos, a 4th c. BC Greek astronomer, 18 centuries before Copernicus.

PNAS doi:10.1073/pnas.0901848106

Genetic identification of putative remains of the famous astronomer Nicolaus Copernicus

Wiesław Bogdanowicz et al.

Abstract

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.

http://dienekes.blogspot.com/

Kind of interesting :academic