Y-chromosome of Napoleon the Great

A previous article had determined that Napoleon I had belonged to Y-haplogroup E-M34*, and a new one designates his haplogroup as "M123+, M34+, and L791 and L792+," and determines a multi-STR haplotype for his lineage based on two patrilineal relatives.

Such a well-resolved haplotype may now make it possible to both (i) find descendants and relatives of Napoleon that may be unaware of this connection, and (ii) to more precisely determine the ultimate origins of the house of Buonaparte.

International Journal of Sciences 2(9)

Reconstruction of the Lineage Y Chromosome Haplotype of Napoléon the First

Gerard Lucotte, Jacques Macé, Peter Hrechdakian

As part of the Napoléon I Genome (NIG) project we have reconstructed, based on more than one hundred Y-STRs (Y-short tandem repeats), the complete Y-haplotype of the non-recombinant part of the Y-chromosome (NRY) of French Emperor Napoléon I (1769-1821). We already knew the allelic values at Y-markers of the Y-chromosome of Napoléon I, but only for the palindromic STR YCAIIa and b and for the non-palindromic Y-STR DYS19. The present reconstruction aims to compare the allelic values at Y-STRs of the DNA of Charles Napoléon (C.N.), the living 4th generation descendant of Jérôme Bonaparte (Napoléon I’s youngest brother), with those of Alexandre Colonna Walewski (A.C.W.), the living 4th generation descendant of Count Alexandre Walewski (the son born of the union between Napoléon I and Countess Maria Walewska). We have previously established that Napoléon I, C.N. and A.C.W. are of the same Y-haplogroup E1b1b1b2a1. The allelic values for C.N. and A.C.W. are the same for ninety-three other non-palindromic markers (belonging to ninety different STRs) and for thirty-eight other palindromic markers (belonging to fifteen different STRs); these values then constitute those deduced in the reconstruction of the allelic values of the STR markers of the Napoléon I’s Y-haplotype. Four non-palindromic STRs and two palindromic STRs have different allelic values in C.N. and A.C.W.; we have deduced the allelic value of Napoléon I for one (DYS454), and the probable allelic values for two (Y-GATA-C4 and DYS712) of these non-palindromic variable STRs. To sum up, we have established, by reconstruction of the lineage, the allelic values of the markers of Napoléon I’s Y-haplotype for a total of one-hundred and thirty-three different Y-STR markers.

Link (pdf)

Complete genome of the Tyrolean Iceman

I'll update this post once I read the paper. I could not locate a source for the data after a quick scan of the paper, but:

After genotyping, we merged both HapMap and 1,000 Genomes genotypes with the Popres/Iceman-merged dataset, resulting in a final analysis dataset containing 125,729 SNPs. PCA was then performed on all samples, excluding the five 1,000 Genomes samples, which were subsequently projected onto the PC space inferred from the rest of the dataset.

UPDATE: The Iceman's genome can be found at the http://icemangenome.net site.

UPDATE I (Y-chromosome):


From the paper:

We addressed this issue here by analysing the G2a4-defining L91 SNP in 7,797 chromosomes from 30 regions across Europe. Fig. 3d shows the spatial frequency distribution of G2a4 throughout Europe. The highest frequencies (25 and 9%) occur in southern Corsica and northern Sardinia, respectively, (Fig. 3e) while in mainland Europe the frequencies do not reach 1%.

UPDATE II (Autosomal DNA): 

In terms of autosomal DNA, the Iceman clearly clusters with modern Sardinians, and also appears slightly more removed than them compared to continental Europeans. Interestingly, at least as far as the PC analyssi shows, Sardinians appear to be intermediate between the Iceman and SW Europeans, rather than Italians. Perhaps, this makes sense if the Paleo-Sardinian language is indeed related to languages of Iberia.

I don't see a downloadable version of the Iceman's genome at the icemangenome.net site, but I've asked the corresponding author for a PLINK/EIGENSOFT version of it. I anticipate that, as I've predicted, this will appear to be largely "Mediterranean" according to Dodecad v3, or "Atlantic_Med" according to the newer K12b calculator. It appears that there has indeed been Sardinian continuity against a backdrop of European discontinuity.

UPDATE III (Sardinians):


The Iceman's genome also places the Sardinian genetic isolate into new light. Two explanations have been proposed for the fact that Sardinians appear genetically distinctive vis a vis continental Europeans:

1. Sardinians have lost due to drift alleles that were present in continental Europe
2. Continental Europeans have gained alleles that were not present in their Sardinian-like ancestors

The Iceman's genome argues strongly in favor of the latter hypothesis: continental Europeans, or, at least North Italians c. 5,300 years ago were more Sardinian-like, and they have become less Sardinian-like up to the present, probably due to an influx of new populations, carrying new alleles. As more ancient DNA is recovered, we will slowly witness the transformation of gene pools over time.

Nature Communications 3, Article number: 698 doi:10.1038/ncomms1701

New insights into the Tyrolean Iceman's origin and phenotype as inferred by whole-genome sequencing

Andreas Keller et al.

The Tyrolean Iceman, a 5,300-year-old Copper age individual, was discovered in 1991 on the Tisenjoch Pass in the Italian part of the Ötztal Alps. Here we report the complete genome sequence of the Iceman and show 100% concordance between the previously reported mitochondrial genome sequence and the consensus sequence generated from our genomic data. We present indications for recent common ancestry between the Iceman and present-day inhabitants of the Tyrrhenian Sea, that the Iceman probably had brown eyes, belonged to blood group O and was lactose intolerant. His genetic predisposition shows an increased risk for coronary heart disease and may have contributed to the development of previously reported vascular calcifications. Sequences corresponding to ~60% of the genome of Borrelia burgdorferi are indicative of the earliest human case of infection with the pathogen for Lyme borreliosis.

Link

Napoleon Bonaparte belonged to haplogroup E1b1b1c1* (E-M34*)

A previous paper on his mtDNA which was H.  A previous study found that Hitler also belonged to haplogroup E1b1b. So, expect plenty of war and mayhem if a new European leader emerges with a haplogroup E1b1b chromosome -- and, yes, I'm joking.

Journal of Molecular Biology Research Vol 1, No 1 (2011)

Haplogroup of the Y Chromosome of Napoléon the First

Gerard Lucotte, Thierry Thomasset, Peter Hrechdakian

Abstract
This paper describes the finding of the determination of the Y-haplogroup of French Emperor Napoléon I (Napoléon Bonaparte). DNA was extracted from two islands of follicular sheaths located at the basis of two of his beard hairs, conserved in the Vivant Denon reliquary. The Y-haplogroup of Napoléon I, determined by the study of 10 NRY-SNPs (non-recombinant Y-single nucleotide polymorphisms), is E1b1b1c1*. Charles Napoléon, the current collateral male descendant of Napoléon I, belongs to this same Y-haplogroup; his Y-STR profile was determined by using a set of 37 NRY-STRs (non-recombinant Y-microsatellites).

Link

The coming of the Greeks to Provence and Corsica (King et al. 2011)

I am sure I will have much more to say on this paper once I read it carefully, but, for the moment, I will remind readers of my 2008 post on Expansion of E-V13 explained in which I postulated that E-V13 in Europe is attributed largely to Greek colonization.

The paper is also quite exciting as it includes samples of Greeks from the vicinity of Smyrna and Phocaia, the first, as far as I know published samples of Greek men from Asia Minor. I do find, however, somewhat bizarre the use of Anatolian Greeks as the putative ancestors of the colonization of the West Mediterranean and of Anatolian Turks as the supposed representatives of the Neolithic population (Table 1). The claim that the latest Anatolian population stratum (Turks) can be linked to its earliest (Neolithic-era Anatolians) is rather suspect.

UPDATE I (Mar 15)

The authors claim:

This high frequency ofhaplogroup J2a-Page55 (formerly DYS413≤ 18) in Smyrna is characteristic of non Greek Anatolia.

This claim is based entirely on the authors' limited Balkan Greek samples. An inspection of more Greek samples shows that DYS413 less or equal to 18 occurs at higher frequencies both in Crete, but also several mainland sites (Serrai, Larisa, Patrai) spanning the entire country. Hence, I believe that the claim that J2a-Page55 distinguishes Greeks from non-Greeks is spurious.

UPDATE II (Mar 15)

The authors cite the "Phoenician" paper:

Previous Y-chromosome genetic studies of Phoenician colonization have demonstrated that haplogroup J2 frequency was amplified in regions containing the Phoenician colonies of Iberia and North Africa in comparison to areas not containing Phoenician colonies [7]

My scathing criticism of that paper, and the specific "Phoenician" association with J2 can be found here.

UPDATE III (Mar 15)

The authors make a big deal of the presumed relationship of Phocaea with Ionians and of Smyrna with Ionian/Aeolians. As I have mentioned before, it is a hard sell to think that two sites right next to each other, inhabited by people who had no ethnic or religious distinction for more than 2,000 years (any tribal Greek identities had disappeared by ancient times) managed to retain, nonetheless distinctive gene pools from each other over that time span that can be traced to archaic Greek tribal distinctions.

UPDATE (Mar 17)

The above-mentioned nitpicks do not, however, detract from the paper's thesis. So, it's worth repeating a few of the things on which this thesis is supported:

• We have new Greek population samples from Asia Minor that show E-V13 frequencies well within the regional variation of mainland Greece, and higher than in the Turkish Anatolian population. This disproves the theory that E-V13 may have been introduced to the mainland Greek population recently from Albanians, Thracians, and other bizarre theories advocated by some, as these would not have affected substantially the Greeks of West Asia Minor.
• It should be noted however, that E-V13 frequencies vary substantially among Greek populations. This seems consistent with my theory of its Bronze Age "heroic" origin, as late lineages are expected to have non-homogeneous frequency distributions.
• The Corsican evidence is consistent with the Greek origin of E-V13 due to the higher frequency of E-V13 around the colony of Alalia (4.6% East Corsica vs. 1.6% in West Corsica).
• The absence of I-M423 in Provence precludes a substantial contribution to the Provencal population by Balkan populations north of Greece where I-M423 reaches a higher frequency.

It seems pretty clear to me that E-V13 bearing men of Provence are patrilineally descended from the Greeks of the archaic age. The same could be true for others (e.g., J-M92) assigned (erroneously in my opinion) to non-Greek Anatolians, but overall, the evidence supports the persistence of the gene pool of the Western Greeks among the present-day southern French.

BMC Evolutionary Biology 2011, 11:69doi:10.1186/1471-2148-11-69

The coming of the Greeks to Provence and Corsica: Y-chromosome models of archaic Greek colonization of the western Mediterranean

Roy J King et al.

Abstract (provisional)

Background
The process of Greek colonization of the Central and Western Mediterranean during the Archaic and Classical Eras has been understudied from the perspective of population genetics. To investigate the Y chromosomal demography of Greek colonization in the Western Mediterranean, Y-chromosome data consisting of 29 YSNPs and 37 YSTRs were compared from 51 subjects from Provence, 56 subjects from Smyrna and 31 subjects whose paternal ancestry derives from Asia Minor Phokaia, the ancestral embarkation port to the 6th century BCE Greek colonies of Massalia (Marseilles) and Alalie (Aleria, Corsica).

Results
19% of the Phokaian and 12% of the Smyrnian representatives were derived for haplogroup E-V13, characteristic of the Greek and Balkan mainland, while 4% of the Provencal, 4.6% of West Corsican and 1.6% of East Corsican samples were derived for E-V13. An admixture analysis estimated that 17% of the Y-chromosomes of Provence may be attributed to Greek colonization. Using putative Neolithic Anatolian lineages: J2a-dys445=6, G2a-M406 and J2a1b1-M92 the data predict a 0% Neolithic contribution to Provence from Anatolia. Estimates of colonial Greek vs. indigenous Celto-Ligurian demography predict a maximum of a 10% Greek contribution, suggesting a Greek male elite-dominant input into the Iron Age Provence population.

Conclusions
Given the origin of viniculture in Provence is ascribed to Massalia, these results suggest that E-V13 may trace the demographic and socio-cultural impact of Greek colonization in Mediterranean Europe, a contribution that appears to be considerably larger than that of a Neolithic pioneer colonization.

Link