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Haplogroup R1b Holocene era founder effect in Central and Western Europe

Distribution of haplogroup R1a in Europe
Distribution of haplogroup R1b in Europe
Migration map of Y-haplogroup R1b from the Paleolithic to the end of the Bronze Age - Eupedia

The phylogenetic relationships of numerous branches within the core Y-chromosome haplogroup R-M207 support a West Asian origin of haplogroup R1b, its initial differentiation there followed by a rapid spread of one of its sub-clades carrying the M269 mutation to Europe.

Here, we present phylogeographically resolved data for 2043 M269-derived Y-chromosomes from 118 West Asian and European populations assessed for the M412 SNP that largely separates the majority of Central and West European R1b lineages from those observed in Eastern Europe, the Circum-Uralic region, the Near East, the Caucasus and Pakistan.

Within the M412 dichotomy, the major S116 sub-clade shows a frequency peak in the upper Danube basin and Paris area with declining frequency toward Italy, Iberia, Southern France and British Isles. Although this frequency pattern closely approximates the spread of the Linearbandkeramik (LBK), Neolithic culture, an advent leading to a number of pre-historic cultural developments during the past ≤10 thousand years, more complex pre-Neolithic scenarios remain possible for the L23(xM412) components in Southeast Europe and elsewhere.

A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe

The initial arrival of farmers from Southwest Asia to the present-day Greece occurred ca 9000 years BP. Outside of Southeast Europe, two episodes of early farming are attested archeologically.

The first involved a maritime colonization of Crete ca 9000 years BP and Southern Italy ca 8000 years BP and subsequently spread to coastal Mediterranean France and Spain, as exemplified by impressed/cardial pottery.

The second involved a migration to Central Europe, from Hungary to France, characterized by LBK (ca 7500 years BP). Within a 3k-year period, the agricultural economy spread across Europe, terminating in Britain and Scandinavia ∼6000 years BP.

This study has evaluated the spatial and temporal distributions of sub-clades of Y-chromosome haplogroup R1b-M269 in Europe, the Near East, the Circum-Uralic region and the Caucasus, revealing the major M412-defined phylogenetic dichotomy between the Central/Western Europe and more easterly distributed representatives.

In addition, several additional sub-haplogroup varieties, especially those in Central and Western Europe, display patterns with geographic locality and clinality. The enhanced resolution of M412-related lineages permits a finer-grained view of the proposal that R1b-M269 coincides with the arrival and spread of farming into Europe.

A recent analysis of 9 Y-STR loci associated with 840 R1b chromosomes resolved just to the level of M269 concluded that all such chromosomes in Europe reflect a recent genetic heritage that was uniformly introduced by exogenous farmers migrating from Western Anatolia.

Our results implicate complexity in the post-glacial formation and expansion of populations in Europe during the past ca 10

The initial arrival of farmers from Southwest Asia to the present-day Greece occurred ca 9000 years BP. Outside of Southeast Europe, two episodes of early farming are attested archeologically. The first involved a maritime colonization of Crete ca 9000 years BP and Southern Italy ca 8000 years BP and subsequently spread to coastal Mediterranean France and Spain, as exemplified by impressed/cardial pottery. The second involved a migration to Central Europe, from Hungary to France, characterized by LBK (ca 7500 years BP). Within a 3k-year period, the agricultural economy spread across Europe, terminating in Britain and Scandinavia ∼6000 years BP.

The phylogenetic relationships of numerous branches within the core Y-chromosome haplogroup R-M207 support a West Asian origin of haplogroup R1b, its initial differentiation there followed by a rapid spread of one of its sub-clades carrying the M269 mutation to Europe. Here, we present phylogeographically resolved data for 2043 M269-derived Y-chromosomes from 118 West Asian and European populations assessed for the M412 SNP that largely separates the majority of Central and West European R1b lineages from those observed in Eastern Europe, the Circum-Uralic region, the Near East, the Caucasus and Pakistan.

Within the M412 dichotomy, the major S116 sub-clade shows a frequency peak in the upper Danube basin and Paris area with declining frequency toward Italy, Iberia, Southern France and British Isles. Although this frequency pattern closely approximates the spread of the Linearbandkeramik (LBK), Neolithic culture, an advent leading to a number of pre-historic cultural developments during the past ≤10 thousand years, more complex pre-Neolithic scenarios remain possible for the L23 (xM412) components in Southeast Europe and elsewhere.

R1b-L23* is relatively frequent in the Middle East (~10% in  Turkey, Iran, Caucasus, Iraq, Syria, Jews and Albania) and dominant haplogroup of Armenians (20-30%) – it is thus called the “Armenian Modal Haplotype”. It is also found on the Balkans, where it has moved around 7000-8000 years ago, with early farmers.

R1b-M269 is by far the most frequent subgroup today, more than half of Western European and (due to the colonization) American males belong to this line, including over 99% of the R1b project members. It is thought to have originated most likely in Anatolia around 8000 years ago(6500-8500 years with confidence). It had a gradual expansion from the Middle East/Anatolia into Europe through the Balkans and the Danube Valley. In its M269* (M269+ L23-) form, it is found rarely around the Mediterranean, Anatolia,the Balkans.

Although human Y chromosomes belonging to haplogroup R1b are quite rare in Africa, being found mainly in Asia and Europe, a group of chromosomes within the paragroup R-P25* are found concentrated in the central-western part of the African continent, where they can be detected at frequencies as high as 95%. R1b1a or R-V88 encompass all the African R-P25* and about half of the few European/west Asian R-P25* chromosomes.

The R-V88 coalescence time was estimated at 9200–5600 kya, in the early mid Holocene. We suggest that R-V88 is a paternal genetic record of the proposed mid-Holocene migration of proto-Chadic Afroasiatic speakers through the Central Sahara into the Lake Chad Basin, and geomorphological evidence is consistent with this view.

A major Y-chromosome haplogroup R1b Holocene era founder effect in Central andWestern Europe

Eurasian Y chromosome R1b in Africa

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