July 08, 2009

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.

Link

11 comments:

Gioiello said...

That Copernicus was of German male descent was clear also from his biography. Among other things we can say that when he was in Bologna he signed himself in “Natio Germanorum”.

Crimson Guard said...

"Dark (but not brown/black) irises."

That part is rather dumb. How can you have dark irises but not brown or black as they claim there? Also Black eyes is pretty much a misnomer, namely among Europoids. Another thing is why would his portraits portray him with dark eyes if he wasnt?! Mustve been the ideal at the time I suppose,lol!

The German ethnic background is possible, although in his day those lands were quite different than today.

Polak said...

"That Copernicus was of German male descent was clear also from his biography. Among other things we can say that when he was in Bologna he signed himself in “Natio Germanorum”."

They didn't have a Natio Polonium.

And after that, Copernicus was a commander on the Polish side in the war against the Teutonic Knights.

But anyway, if having R1b is a sign of being German, then somethng like 5 million Poles must be German.

Gioiello said...

Si Poloni populus pristinus essent inter Nationem Polonam numerati fuissent, id est "Natio Polonorum". Spero te Parvulus Majus appellaturum!

Jaska said...

Dienekes:
"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."

Probability may well be so, if we only look at the frequencies. But yet quite similar R1-haplotypes (clearly R1b, though M343 not tested) can be found even in Russia - even in 17 STR-marker comparison (see rows 260, 276, 278 and 286 in the supplementary table 3 in Roewer et al. 2008: Analysis of Y chromosome STR haplotypes in the European part of Russia reveals high diversities but non-significant genetic distances between populations. – International Journal of Legal Medicine.)

R1b seems to be an old and widespread line (up to Siberia), so there is no actual reason to prefer the German direction. Such a statement could be made only after/if we find out that only some German-specific R1b-haplotype is clearly ancestral to the one of Copernicus.

Dienekes said...

This result does not prove that Copernicus' patrilineage was of German origin, but it increases the odds that it was. R1b's are extended from Cameroon to Xinjiang, but that does not mean that we can't make probabilistic inferences about people based on the knowledge that they belong to it.

Copernicus' origin was from a part of the world where Germans and Poles co-existed, and Germans tend to have 3-4 times more R1b than Poles do; so, there is a higher chance that an R1b from that part of the world is of German than of Polish origin. One wouldn't make that argument if he saw an R1b from Cameroon or Xinjiang, but for Copernicus it is a very reasonable one.

Jaska said...

Dienekes:
"Copernicus' origin was from a part of the world where Germans and Poles co-existed, and Germans tend to have 3-4 times more R1b than Poles do; so, there is a higher chance that an R1b from that part of the world is of German than of Polish origin."

Yes, I agree. I'm just saying that we don't have to content ourselves to the level of probability. I guess there are enough R1b-data to analyze whether the haplotype of Copernicus is descendent of a haplotype mainly found in German, Polish, both or neither population.

Major Tom said...

He probably came down from a family with both the descents, Germans and Poles. Perhaps he was conscious that it had more German origins than Poles, but he was a citizen of the kingdom of Poland and in that time the subjects followed the religion and the citizen of their king or ruler, for this he was Polish.

Dienekes said...

I wrote of the ethnic origin of his patrilineage, not the national allegiance of Copernicus.

When Constantinople fell to the Turks, there were as many Janissaries outside its walls trying to take it as there were defenders trying to protect it. The patrilineages of these two groups had the same origins, even though the two sets of men had quite different allegiances.

Ponto said...

Copernicus' haplogroup being putative R1b or his eye color has little to do with his genius and his addition the total sum of knowledge of mankind.

I just hope for all the kerfuffle about his haplogroup, ethnicity, nationalistic tendencies and eye color not in keeping with his portraits, that the remains are those of Copernicus!

Eye color has been known to change in many individuals of the Caucasoid race, HERC2 or not.

Annie Mouse said...

One of my relatives is genetically predicted to have grey or blue eyes. His eyes are in fact green/hazel. Green/hazel can be a very dark eye colour, and most of these old paintings darken with time.