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ORIGINAL ARTICLE

The Andalusian population from Huelva reveals a high diversification of Y-DNA paternal lineages from haplogroup E: Identifying human male movements within the Mediterranean space

, , , , , , , & show all
Pages 86-107 | Received 22 Apr 2009, Accepted 28 Jul 2009, Published online: 26 Nov 2009
 

Abstract

Background: Gene flow among human populations is generally interpreted in terms of complex patterns, with the observed gene frequencies being the consequence of the entire genetic and demographic histories of the population.

Aims: This study performs a high-resolution analysis of the Y-chromosome haplogroup E in Western Andalusians (Huelva province). The genetic information presented here provides new insights into migration processes that took place throughout the Mediterranean space and tries to evaluate its impact on the current genetic composition of the most southwestern population of Spain.

Subjects and methods: 167 unrelated males were previously typed for the presence/absence of the Y-chromosome Alu polymorphism (YAP). The group of YAP (+) Andalusians was genotyped for 16 Y-SNPs and also characterized for 16 Y-STR loci.

Results: The distribution of E-M81 haplogroup, a Berber marker, was found at a frequency of 3% in our sample. The distribution of M81 frequencies in Iberia seems to be not concordant with the regions where Islamic rule was most intense and long-lasting. The study also showed that most of M78 derived allele (6.6%) led to the V13* subhaplogroup. We also found the most basal and rare paragroup M78* and others with V12 and V65 mutations. The lineage defined by M34 mutation, which is quite frequent in Jews, was detected as well.

Conclusions: The haplogroup E among Western Andalusians revealed a complex admixture of genetic markers from the Mediterranean space, with interesting signatures of populations from the Middle East and the Balkan Peninsula and a surprisingly low influence by Berber populations compared to other areas of the Iberian Peninsula.

Acknowledgements

We express our sincere thanks to the people of Huelva who generously donated blood samples to contribute to this study, and also to Dr A. Fernández-Jurado from the Haematology Department and Dr E. Prado and Dr D. Fernández from the Blood Transfusion Center at Hospital Juan Ramón Jiménez in Huelva for their invaluable help in organizing the fieldwork to collect samples, and to Dr P. Cuesta from Complutense Computer Center for his help with statistical analysis. This research was supported by grants from the Spanish Ministry of Education and Science (Investigation Projects BOS2002-01677 and CGL2006-04749/BOS) awarded to RC and from the Italian Ministero dell’Istruzione, dell’Università e della Ricerca (MIUR-PRIN 2007) awarded to AN.

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