The 49a,f haplotype 11 is a new marker of the EU19 lineage that traces migrations from northern regions of the Black Sea

• Published in: Human immunology 2001-09, Vol.62 (9), p.922-932
• Main Authors: Passarino, G, Semino, O, Magri, C, Al-Zahery, N, Benuzzi, G, Quintana-Murci, L, Andellnovic, S, Bullc-Jakus, F, Liu, A, Arslan, A, Santachiara-Benerecetti, A S
• Format: Article
• Language: English
• Subjects: Alleles; Blotting, Southern; Emigration and Immigration; Europe - ethnology; Gene Frequency; Genetic Markers - genetics; Genetic Variation; Haplotypes - genetics; Humans; Male; Microsatellite Repeats - genetics; Middle East - ethnology; Polymorphism, Genetic; Polymorphism, Restriction Fragment Length; Y Chromosome - genetics
• ISSN: 0198-8859
• DOI: 10.1016/S0198-8859(01)00291-9

Previous studies on human Y-chromosome polymorphisms in the European populations highlighted the high frequency of the 49a,f/TaqI haplotype 11 and of the Eu19 (M17) lineage in Eastern Europe. To better understand the origin and the evolution of the Eu19, and its relationship with 49a,f Ht11, this study surveyed 2,235 individuals (mainly from Europe and the Middle East) for the 49a,f Ht11 and for many biallelic markers defining the Eu19 lineage. As previously described, the highest frequency of Eu19 was found in Eastern Europe. All the Eu19 Y-chromosomes turned out to be 49a,f Ht11 or its derivatives, the distribution of which suggests that the Eu19/49a,f Ht11 emerged in Ukraine, probably in a Palaeolithic population. Thereafter, the spread of this lineage toward Europe, Asia, and India occurred at different waves over a few thousands years. At present this seems to indicate the influence of the Ukraine Palaeolithic groups in the gene pool of modern populations. For the first time it is possible to make inferences about the evolution of some haplotypes of the 49a,f system. In spite of its unknown molecular base, this is one of the first most informative polymorphisms of the Y chromosome.