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Genetics of the Basque People

Although they are genetically distinctive in some ways, the Basques are still very typically West European in terms of their Y-DNA and mtDNA sequences, and in terms of some other genetic loci. These same sequences are widespread throughout the western half of Europe, especially along the western fringe of the continent.

Studies of the Y-chromosome found that on their direct male lineages modern Basques have a common ancestry with other Western Europeans. The similarity includes the predominance in their male populations of Y-chromosome Haplogroup R1b, now considered to have been spread through Europe from southwest Asia in the Neolithic period or later, between 4,000 to 8,000 years ago.

However that study done by Balaresque et al.(2009) had many biases and more recent studies have proven that Subclades of R1b1b2 might have originated on Western Europe during the Holocene before the Neolithic Expansion. According to Myres et al.(2010): "The coalescent estimate for the Y-STR network tree of 245 M269*+L23(xM412) chromosomes is 10 270±1680 years Before Present (BP)" Clearly predating the Neolithic Expansion from Anatolia. Another study done by Cruciani et al.(2010) has also confirm that there is a clear dichotomy between the Western-Easyern branches of R1b1b2, and many scientist are now consider that R1b1b2 might have in fact originated in SouthEastern Europe in the Upper Paleolithic time, expanding from there to Western Europe and Anatolia. According to Cruciani et al.(2010):

    The overall frequency pattern of theR1b1b2 sub-haplogroups here analyzed is compatible with several scenarios,including mutation surfing on the wave of advance of an expanding population and/or local bottlenecks and re-expansion from refuge areas.Preliminary time expansion estimates for haplogroups R1b1b2g(8.3ky; 95%CIs 5.8–10.9ky)and R1b1b2h(7.4ky; 95%CIs 5.3-10.2ky),based on 7STRs analyzed on 24 and 27 males respectively,are compatible with both Neolithic and post-glacial expansion/s within Europe.The majority (58.7%)of R1b1b2 chromosomes from Europe were found to be ancestral for both U106 and U152(paragroup R1b1b2*)and showeda frequency cline from western to eastern Europe.Further studies are needed to refine the R1b1b2 phylogeny and fully disclose the micro-evolutionary events underlying the present frequency distribution of R1b1b2 sub-haplogroups.

In regards to the presence of R1b1b2(R-M269) in Basque and other Western Europeans a more recent study states:

    A recent network analysis of the R-M269 Y chromosome lineage has purportedly corroborated Neolithic expansion from Anatolia, the site of diffusion of agriculture. However, the data are still controversial and the analyses so far performed are prone to a number of biases. In the present study we show that the addition of a single marker, DYSA7.2, dramatically changes the shape of the R-M269 network into a topology showing a clear Western-Eastern dichotomy not consistent with a radial diffusion of people from the Middle East. We have also assessed other Y-chromosome haplogroups proposed to be markers of the Neolithic diffusion of farmers and compared their intra-lineage variation—defined by short tandem repeats (STRs)—in Anatolia and in Sardinia, the only Western population where these lineages are present at appreciable frequencies and where there is substantial archaeological and genetic evidence of pre-Neolithic human occupation. The data indicate that Sardinia does not contain a subset of the variability present in Anatolia and that the shared variability between these populations is best explained by an earlier, pre-Neolithic dispersal of haplogroups from a common ancestral gene pool. Overall, these results are consistent with the cultural diffusion and do not support the demic model of agriculture diffusion.

Autosomal genetic studies confirm that Basques have a very close relationship with other Europeans, especially with Spaniards - who have a common genetic identity of over 70% with Basques.

In fact, according to a Europe-wide study, the main components in the European genomes appear to derive from ancestors whose features were similar to those of modern Basques and Near Easterners, with average values greater than 35% for both these parental populations, regardless of whether or not molecular information is taken into account. The lowest degree of both Basque and Near Eastern admixture is found in Finland, whereas the highest values are, respectively, 70% "Basque" in Spain and more than 60% "Near Eastern" in the Balkans.

Before the development of modern genetics based on DNA sequencing, Basques were noted as having the highest global apportion of the Rh- blood type (35% phenotypically, 60% genetically). Additionally, the Basque population has virtually no B blood type, nor the related AB type. These differences are thought to reflect their long history of isolation, as well as times during which the Basque population contracted, allowing genetic drift to dramatically influence genetic makeup. The history of isolation reflected in gene frequencies has presumably also been key to the retention of the distinctive Basque language. In fact, in accordance with other genetic studies, a recent genetic piece of research from 2007 claims: "The Spanish and Basque groups are the furthest away from other continental groups (with more diversity within the same genetic groups) which is consistent with the suggestions that the Iberian peninsula holds the most ancient West European genetic ancestry."

Since the Basques speak a non-Indo-European language and have the highest proportion of the Rh negative blood type of all the peoples of the world, they were widely considered to be a genetically isolated population, preserving the genes of European Palaeolithic hunter-gatherers, until recent genetic studies found that modern Basques have a common ancestry with other Western Europeans.

A study done in May, 2010 has shown homogeneity of Spanish and French Basques, and confirmed their genomic distinctiveness from other European populations

* High-density SNP Genotyping Detects Homogeneity of Spanish and French Basques, and Confirms Their Genomic Distinctiveness from other European Populations by Naiara Rodríguez-Ezpeleta, et al.

    Abstract: A recent study reported that Basques do not constitute a genetically distinct population, and that Basques from Spanish and French provinces do not show significant genetic similarity. These conclusions disagree with numerous previous studies, and are not consistent with the historical and linguistic evidence that supports the distinctiveness of Basques. In order to further investigate this controversy, we have genotyped 83 Spanish Basque individuals and used these data to infer population structure based on more than 60,000 single nucleotide polymorphisms of several European populations. Here, we present the first high-throughput analysis including Basques from Spanish and French provinces, and show that all Basques constitute a homogeneous group that can be clearly differentiated from other European populations.

     

Population Stratification of European Populations

* The Human Y Chromosome: An evolutionary marker comes of age by Mark A. Jobling, et al.
Global Distribution of Y Haplogroups

    1, !Kung; 2, Biaka Pygmies; 3, Bamileke; 4, Fali; 5, Senegalese; 6, Berbers; 7, Ethiopians; 8, Sudanese; 9, Basques; 10, Greeks; 11, Polish; 12, Saami; 13, Russians; 14, Lebanese; 15, Iranians; 16, Kazbegi (Georgia); 17, Kazaks; 18, Punjabis; 19, Uzbeks; 20, Forest Nentsi; 21, Khants; 22, Eastern Evenks; 23, Buryats; 24, Evens; 25, Eskimos; 26, Mongolians; 27, Evenks; 28, Northern Han; 29, Tibetans; 30, Taiwanese; 31, Japanese; 32, Koreans; 33, Filipinos; 34, Javanese; 35, Malaysians; 36, West New Guineans (highlands); 37, Papua New Guineans (coast); 38, Australians (Arnhem); 39, Australians (Sandy Desert); 40, Cook Islanders; 41, Tahitians; 42, Maori; 43, Navajos; 44, Cheyenne; 45, Mixtecs; 46, Makiritare; 47, Cayapa; 48, Greenland Inuit.

* A New Genetic Map of Living Humans in Interconnected World Regions by E. Valaitis1 and L. Martin
A Genetic Family Tree of European Sub-Regions

* The Origin of Amerindians and the Peopling of the Americas According to HLA Genes: Admixture with Asian and Pacific People by A. Arnaiz-Villena, et al.
Neighbor-Joining Dendrogram Based on HLA-DRB1 Allele Frequencies

Correspondence Analysis Based on HLA-DRB1 and HLA-DQB1 Allele Frequencies

(Sardinians, Spanish Basques, Chuvashians, Tuvinians)