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

2009/11/26 by Beatriz Ambrosio, J. M. Dugoujon, Candela Hernández +6 · 17 citations
Biochemistry, Genetics and Molecular Biology · #Forensic and Genetic Research #Genetic Associations and Epidemiology #Genetics and Physical Performance #Haplogroup #Biology #Population #Evolutionary biology #Genetics #Y chromosome #Gene pool #Lineage (genetic) #Gene flow #Haplotype #Genetic variation #Allele #Demography #Gene #Genetic diversity

paper · doi:10.3109/03014460903229155

published in Annals of Human Biology 37(1), 86-107 (Informa)

openalex publication_date 2009/11/26 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/28

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.

Citations

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Cited by

• Early Holocenic and Historic mtDNA African Signatures in the Iberian Peninsula: The Andalusian Region as a Paradigm
• Haplogroup E-V68 [wikipedia]