Genetic Chaos

Thursday, May 27, 2004

Ribeiro’s typology, genomes, and Spanish colonialism, as viewed from Gran Canaria and Colombia

Four biallelic and six multiallelic Y-chromosome polymorphisms were investigated in 59 Gran Canarian, 60 North African Berber and 46 Spanish subjects. These new data were merged with equivalent literature information to obtain the parental Y-chrosomomal contribution in Gran Canarians, Colombians, and Venezuelans. The results were then compared, for Gran Canarians and Colombians, to those derived from autosomal and mtDNA. In both groups, the Spanish Y-chromosome contribution was much more marked than that estimated using mtDNA. This analysis showed a usual trend in the Spanish Colonial history, characterized by a demographic collapse of the aboriginal population, but with considerable introgression of genes through native women. In accordance to D. Ribeiro’s typology for peoples subjected to Colonialism, the Y-chromosomes of these admixed populations are classified as transplanted, their mtDNA as witness, and their autosome sets as new.

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Transplanted Male Genomes in Three Venezuelan Populations

Since the Conquest and Colonization of the New World, Native American history has been strongly influenced by important migrations from Europe and Africa. The arrival of immigrants led to the establishment of a rapidly growing admixed population and a concomitant decline in the Amerind groups (Salzano and Bortolini, 2002). Among the Spaniard migrants, those from the Canary Islands have arrived continuously to Venezuela since the Colonial period, some Venezuelan regions having a well-known Canarian influence (Castillo Lara, 1980; Cunill Grau, 1987; Lynch, 1987). Cultural aspects of this influence have been reported (Báez Gutiérrez, 1995, Rodríguez, 1995), but little is known about their biological contribution. Recently published studies have demonstrated the maintenance of the original Canarian gene pool in three semi-isolated Venezuelan populations: San Antonio de Los Altos, San Diego de Los Altos and Hoyo de La Cumbre. Using classical genetic polymorphisms Castro de Guerra and Zambrano (2000) found that the European genetic contribution is majoritarian, with values ranging from 78% (San Diego) to 92% (Hoyo de La Cumbre). On the other hand, genetic distance analyses suggested that this component is mainly of Canarian origin in Hoyo de La Cumbre and San Antonio, whereas in San Diego other European influences should also be considered.

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Mitochondrial DNA transit between West Asia and North Africa inferred from U6 phylogeography

Background: World-wide phylogeographic distribution of human complete mitochondrial DNA sequences suggested a West Asian origin for the autochthonous North African lineage U6. We report here a more detailed analysis of this lineage, unraveling successive expansions that affected not only Africa but neighboring regions such as the Near East, the Iberian Peninsula and the Canary Islands.

Results: Divergence times, geographic origin and expansions of the U6 mitochondrial DNA clade, have been deduced from the analysis of 14 complete U6 sequences, and 56 different haplotypes, characterized by hypervariable segment sequences and RFLPs.

Conclusions: The most probable origin of the proto-U6 lineage was the Near East. Around 30,000 years ago it spread to North Africa where it represents a signature of regional continuity. Subgroup U6a reflects the first African expansion from the Maghrib returning to the east in Paleolithic times. Derivative clade U6a1 signals a posterior movement from East Africa back to the Maghrib and the Near East. This migration coincides with the probable Afroasiatic linguistic expansion. U6b and U6c clades, restricted to West Africa, had more localized expansions. U6b probably reached the Iberian Peninsula during the Capsian diffusion in North Africa. Two autochthonous derivatives of these clades (U6b1 and U6c1) indicate the arrival of North African settlers to the Canarian Archipelago in prehistoric times, most probably due to the Saharan desiccation. The absence of these Canarian lineages nowadays in Africa suggests important demographic movements in the western area of this Continent.

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Mitochondrial portraits of the Madeira and Açores archipelagos witness different genetic pools of its settlers

We have studied the matrilineal genetic composition of the Madeira and Açores north Atlantic archipelagos, which were settled by the Portuguese in the 15th century. Both archipelagos, and particularly Madeira, were involved in a complex commercial network established by the Portuguese, which included the trading of slaves across the Atlantic. One hundred and fifty-five mtDNAs sampled from the Madeira and 179 from the Açores archipelagos were analysed for the hypervariable segment I (HVS-I), and for haplogroup-diagnostic coding-region RFLPs. The different settlement histories of both groups of islands are well reflected in their present day mtDNA pool. Although both archipelagos show identical diversity values, they are clearly different in their haplogroup content. Madeira displays a stronger sub-Saharan imprint, with haplogroups L1–L3 constituting about 13% of the lineages. Also, the relative frequencies of L sub-clusters in Madeira and mainland Portugal suggests that, at least in part, African presence in Madeira can be attributed to a direct gene flow from West Africa and not via Portugal. A comparison of the genetic composition of these two archipelagos with the Canary Islands, specially taking into account that their European source population was essentially from the Iberian Peninsula, testifies the stronger impact of the North African U6 cluster in the Canaries. This group is present in Madeira at a moderate frequency, but very reduced in the Açores. Nevertheless the recorded introduction of Canary native Guanches, who are characterized by the presence of particular sub-clade U6b1, has left no detectable imprints in the present day population of Madeira.

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Inferring Admixture Proportions from Molecular Data: Extension to Any Number of Parental Populations

The relative contribution of two parental populations to a hybrid group (the admixture proportions) can be estimated using not only the frequencies of different alleles, but also the degree of molecular divergence between them. In this paper, we extend this possibility to the case of any number of parental populations. The newly derived multiparental estimator is tested by Monte Carlo simulations and by generating artificial hybrid groups by pooling mtDNA samples from human populations. The general properties (including the variance) of the two-parental estimator seem to be retained by the multiparental estimator. When mixed human populations are considered and hypervariable single-locus data are analyzed (mtDNA control region), errors in the estimated contributions appear reasonably low only when highly differentiated parental populations are involved. Finally, the method applied to the hybrid Canary Island population points to a much lower female contribution from Spain than has previously been estimated.

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