Y chromosomal haplogroup J as a signature of the post-neolithic colonization of Europe

Y chromosomal haplogroup J as a signature of the post-neolithic colonization of Europe

A very important new paper about Y chromosome haplogroup J. I will have more to say once I have finished reading it carefully.

Update:
The main finding of the authors is that haplogroup J was not carried by a single advance from the Middle East into Europe. Rather, at least two expansions can be detected, a "Neolithic" one and a "Greek" one:

In summary, our data are in agreement with a major discontinuity for the peopling of southern Europe. Here, haplogroup J constitutes not only the signature of a single wave-of-advance from the Levant but, to a greater extent, also of the expansion of the Greek world, with an accompanying novel quota of genetic variation produced during its demographic growth. In the analysis by Cavalli-Sforza et al. (1994), the two peopling contributions can be distinguished, as they are caught in the first and the fourth principal component, respectively, but the relevance of the latter may have been underestimated. The two processes, widely spaced in time, are associated with dramatically different travel technologies. This implies that, in the central and west Mediterranean, the entry of J chromosomes may have occurred mainly by sea, i.e., in the south–east of both Spain and Italy.

Human Genetics (online first)

Y chromosomal haplogroup J as a signature of the post-neolithic colonization of Europe
F. Di Giacomo et al.

Abstract In order to attain a finer reconstruction of the peopling of southern and central-eastern Europe from the Levant, we determined the frequencies of eight lineages internal to the Y chromosomal haplogroup J, defined by biallelic markers, in 22 population samples obtained with a fine-grained sampling scheme. Our results partially resolve a major multifurcation of lineages within the haplogroup. Analyses of molecular variance show that the area covered by haplogroup J dispersal is characterized by a significant degree of molecular radiation for unique event polymorphisms within the haplogroup, with a higher incidence of the most derived sub-haplogroups on the northern Mediterranean coast, from Turkey westward; here, J diversity is not simply a subset of that present in the area in which this haplogroup first originated. Dating estimates, based on simple tandem repeat loci (STR) diversity within each lineage, confirmed the presence of a major population structuring at the time of spread of haplogroup J in Europe and a punctuation in the peopling of this continent in the post-Neolithic, compatible with the expansion of the Greek world. We also present here, for the first time, a novel method for comparative dating of lineages, free of assumptions of STR mutation rates.

Link

mtDNA of ancient central Asians

mtDNA of ancient central Asians

An interesting new paper confirms the anthropological and archaeological picture of a westward spread of Caucasoids in Central Asia in early prehistoric times, followed by the spread of Mongoloids in the opposite direction during the 1st millennium BC. The Caucasoid-Mongoloid hybrid population resulting from these interactions is similar in terms of mtDNA with present-day Central Asians with some noted differences (e.g., presence of additional West Eurasian haplogroups). In the ancient samples, West Eurasian haplogroups H, HV, I, T*, T1, U*, U1, U5, U5a1 and W were represented:

• HV sequences have matches in the Central Mediterranean region
• H sequences are split between the common Cambridge Reference Sequence (CRS) found in many populations, and two other sequences found in the Central Mediterranean and the Caucasus
• The I sequence is present in a modern Central Asian and also in individuals from the Caucasus
• The W sequence is widespread in West Eurasia
• T* sequences are widespread in Europe, the Near East and the Central Mediterranean region
• T1 is widespread in West Eurasia, but also found sporadically in East Eurasia
• The U1a sequences are found in Turks, Armenians and Caucasians
• The U5a sequence has been found in an Egyptian
• The U5a1 sequence is frequent in the Caucasus and present in Europe, while a different U5a1 was reported previously in Mongolia

The East Eurasian haplogroups belong to A*, M*, M4 and G2:

• The M* sequence was observed in an Indian individual
• The M4 sequence has not been previously reported
• The G2 sequence is found in present-day China and Central Asia
• One A sequence is found in present-day Central Asians and Indians, while the other two have a motif found in a modern Chukchi

Most (78%) of the sequences are of West Eurasian (Caucasoid) origin, but before the 7th c. BC, East Eurasian (Mongoloid) sequences are absent, although they could be present up to 20.6% (p<0.05).
Proc R Soc Lond B Biol Sci. 2004 May 7;271(1542):941-7. 

Unravelling migrations in the steppe: mitochondrial DNA sequences from ancient central Asians.
Lalueza-Fox C et al.

This study helps to clarify the debate on the Western and Eastern genetic influences in Central Asia. Thirty-six skeletal remains from Kazakhstan (Central Asia), excavated from different sites dating between the fifteenth century BC to the fifth century AD, have been analysed for the hypervariable control region (HVR-I) and haplogroup diagnostic single nucleotide polymorphisms (SNPs) of the mitochondrial DNA genome. Standard authentication criteria for ancient DNA studies, including multiple extractions, cloning of PCR products and independent replication, have been followed. The distribution of east and west Eurasian lineages through time in the region is concordant with the available archaeological information: prior to the thirteenth-seventh century BC, all Kazakh samples belong to European lineages; while later an arrival of east Eurasian sequences that coexisted with the previous west Eurasian genetic substratum can be detected. The presence of an ancient genetic substratum of European origin in West Asia may be related to the discovery of ancient mummies with European features in Xinjiang and to the existence of an extinct Indo-European language, Tocharian. This study demonstrates the usefulness of the ancient DNA in unravelling complex patterns of past human migrations so as to help decipher the origin of present-day admixed populations.

Link (pdf)