Origin and Expansion of Haplogroup H, the Dominant Human Mitochondrial DNA Lineage in West Eurasia: The Near Eastern and Caucasian Perspective

Abstract

More than a third of the European pool of human mitochondrial DNA (mtDNA) is fragmented into a number of subclades of haplogroup (hg) H, the most frequent hg throughout western Eurasia. Although there has been considerable recent progress in studying mitochondrial genome variation in Europe at the complete sequence resolution, little data of comparable resolution is so far available for regions like the Caucasus and the Near and Middle East-areas where most of European genetic lineages, including hg H, have likely emerged. This gap in our knowledge causes a serious hindrance for progress in understanding the demographic prehistory of Europe and western Eurasia in general. Here we describe the phylogeography of hg H in the populations of the Near East and the Caucasus. We have analyzed 545 samples of hg H at high resolution, including 15 novel complete mtDNA sequences. As in Europe, most of the present-day Near Eastern-Caucasus area variants of hg H started to expand after the last glacial maximum (LGM) and presumably before the Holocene. Yet importantly, several hg H subclades in Near East and Southern Caucasus region coalesce to the pre-LGM period. Furthermore, irrespective of their common origin, significant differences between the distribution of hg H sub-hgs in Europe and in the Near East and South Caucasus imply limited post-LGM maternal gene flow between these regions. In a contrast, the North Caucasus mitochondrial gene pool has received an influx of hg H variants, arriving from the Ponto-Caspian/East European area.

The maternal aborigine colonization of La Palma (Canary Islands)

“…29,30 Of the two haplotypes, which are one-step derived from the most abundant H type of the aboriginal sample (16260), one (16192 16260) belonging to the H3 subgroup has only been found in the modern population of La Palma. The other one (16260 16278) of H1 ascription has never been detected before because, although the same HVRI motif was found in a Yemeni sample, 31 it belonged to H14 subgroup. Finally, the other 3 (15%) haplotypes have only been found in the islands and in the European side of the Mediterranean basin.…”

“…In our case, the archeologist sequence was not retrieved from the external extracts, possibly due to its elimination by later anthropologists handling. Furthermore, this sequence did not appear as a 31 Can196, CanA07, CanD295, CanD508, Can756, and Alg6402 (this study; GenBank accession nos. J719302-FJ719307); AUT5F8, AUTZa9, AUTf1F5, and AUT3F9; 37 GER54; 38 POR162.…”

Using mitochondrial DNA to test the hypothesis of a European post-glacial human recolonization from the Franco-Cantabrian refuge

“…However, as H7 is also comparatively frequent in Tunisia and the Near East (Roostalu et al, 2007;Ennafaa et al, 2009), a Mediterranean propagation of this clade seems more in accordance with its geographical pattern. As subgroup H1 and H3 patterns are in support of this post-glacial recolonization hypothesis, a more detailed analysis of these clades is presented in the following.…”

Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes

“…The repeat sizes of the Y-chromosomal microsatellite markers were weighted according to the mutation rates of the different loci 37 and the e value was set to 0. HVRI-nucleotide positions were weighted according to Roostalu et al 38 and an e value of 0 was used.…”