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- Y-chromosomal diversity in the population of Guinea-Bissau: a multiethnic perspectivePublication . Rosa, Alexandra; Ornelas, Carolina; Jobling, Mark A.; Brehm, António; Villems, RichardThe geographic and ethnolinguistic differentiation of many African Y-chromosomal lineages provides an opportunity to evaluate human migration episodes and admixture processes, in a pan-continental context. The analysis of the paternal genetic structure of Equatorial West Africans carried out to date leaves their origins and relationships unclear, and raises questions about the existence of major demographic phenomena analogous to the large-scale Bantu expansions. To address this, we have analysed the variation of 31 binary and 11 microsatellite markers on the non-recombining portion of the Y chromosome in Guinea-Bissau samples of diverse ethnic affiliations, some not studied before.Results: The Guinea-Bissau Y chromosome pool is characterized by low haplogroup diversity (D = 0.470, sd 0.033), with the predominant haplogroup E3a*-M2 shared among the ethnic clusters and reaching a maximum of 82.2% in the Mandenka people. The Felupe-Djola and Papel groups exhibit the highest diversity of lineages and harbor the deep-rooting haplogroups A-M91, E2-M75 and E3*-PN2, typical of Sahel's more central and eastern areas. Their genetic distinction from other groups is statistically significant (P = 0.01) though not attributable to linguistic, geographic or religious criteria. Non sub-Saharan influences were associated with the presence of haplogroup R1b-P25 and particular lineages of E3b1-M78. Conclusion: The predominance and high diversity of haplogroup E3a*-M2 suggests a demographic expansion in the equatorial western fringe, possibly supported by a local agricultural center. The paternal pool of the Mandenka and Balanta displays evidence of a particularly marked population growth among the Guineans, possibly reflecting the demographic effects of the agriculturalist lifestyle and their putative relationship to the people that introduced early cultivation practices into West Africa. The paternal background of the Felupe-Djola and Papel ethnic groups suggests a better conserved ancestral pool deriving from East Africa, from where they have supposedly migrated in recent times. Despite the overall homogeneity in a multiethnic sample, which contrasts with their social structure, minor clusters suggest the imprints of multiple peoples at different timescales: traces of ancestral inhabitants in haplogroups AM91 and B-M60, today typical of hunter-gatherers; North African influence in E3b1-M78 Y chromosomes, probably due to trans-Saharan contacts; and R1b-P25 lineages reflecting European admixture via the North Atlantic slave trade.
- RAS gene polymorphisms, classical risk factors and the advent of coronary artery disease in the Portuguese populationPublication . Freitas, Ana I.; Mendonça, Isabel; Brión, Maria; Sequeira, Miguel M.; Reis, Roberto P.; Carracedo, Angel; Brehm, AntónioBackground: Several polymorphisms within the renin-angiotensin system cluster of genes have been associated with the advent of coronary artery disease (CAD) or related pathologies. We investigated the distribution of 5 of these polymorphisms in order to find any association with CAD development and distinguish if any of the biochemical and behavioural factors interact with genetic polymorphisms in the advent of the disease. Methods: ACE I/D (rs4340), ACE A11860G (rs4343), AT1R A1166C (rs5186), AGT T174M (rs4762) and AGT M235T (rs699) gene polymorphisms were PCR-RFLP analysed in 298 CAD patients and 510 controls from Portugal. Several biochemical and behavioural markers were obtained. Results: ACE I/D DD and ACE11860 GG genotypes are risk factors for CAD in this population. The simultaneous presence of ACE I/D I and ACE11860 A alleles corresponds to a significant trend towards a decrease in CAD incidence. We found several synergistic effects between the studied polymorphisms and classical risk factors such as hypertension, obesity, diabetes and dyslipidaemia: the presence of the DD genotype of ACE I/D (and also ACE11860 GG) increases the odds of developing CAD when associated to each one of these classical risk factors, particularly when considering the male and early onset CAD subgroup analysis; AGT235 TT also increases the CAD risk in the presence of hypertension and dyslipidaemia, and AT1R1166 interacts positively with hypertension, smoking and obesity. Conclusion: ACE polymorphisms were shown to play a major role in individual susceptibility to develop CAD. There is also a clear interaction between RAS predisposing genes and some biochemical/environmental risk factors in CAD onset, demonstrating a significant enhancement of classical markers particularly by ACE I/D and ACE11860.
- Population genetic structure and colonization sequence of Drosophila subobscura in the Canaries and Madeira Atlantic islands as inferred by autosomal, sex-linked and mtDNA traitsPublication . Pinto, F. M.; Brehm, A.; Hernández, M.; Larruga, J. M.; González, A. M.; Cabrera, V. M.The genetic structure In Atlantic Islands and continental populations of Drosophila subobscura has been studied using autosomal and sex-linked allozymes and ml tochondrial DNA (mtDNA) haplotypes. From the data it Is deduced that whereas the Canary Islands have long been isolated, the neighboring island of Madeira has been subjected to continuous migration from the mainland. In addition, sex-linked allo zymes and mtDNA data show a large divergence between the geologically younger western Islands of the Canarian Archipelago and the older central ones, finding strong founder effects In the former. Divergence rates of sex-linked and mltochon drlal genes relative to autosomlc loci several times higher than expected under neutrality have been explained by differential migration between sexes. The Ca narian Archipelago colonization fits in well with a stepping-stone model of a direc tional east-west migration that parallels the geological origin of these Islands.
- Y-chromosome lineages in Cabo Verde Islands witness the diverse geographic origin of its first male settlersPublication . Gonçalves, Rita; Rosa, Alexandra; Freitas, Ana; Fernandes, Ana; Kivisild, Toomas; Villems, Richard; Brehm, AntónioThe Y-chromosome haplogroup composition of the population of the Cabo Verde Archipelago was profiled by using 32 single-nucleotide polymorphism markers and compared with potential source populations from Iberia, west Africa, and the Middle East. According to the traditional view, the major proportion of the founding population of Cabo Verde was of west African ancestry with the addition of a minor fraction of male colonizers from Europe. Unexpectedly, more than half of the paternal lineages (53.5%) of Cabo Verdeans clustered in haplogroups I, J, K, and R1, which are characteristic of populations of Europe and the Middle East, while being absent in the probable west African source population of Guiné-Bissau. Moreover, a high frequency of J* lineages in Cabo Verdeans relates them more closely to populations of the Middle East and probably provides the first genetic evidence of the legacy of the Jews. In addition, the considerable proportion (20.5%) of E3b(xM81) lineages indicates a possible gene flow from the Middle East or northeast Africa, which, at least partly, could be ascribed to the Sephardic Jews. In contrast to the predominance of west African mitochondrial DNA haplotypes in their maternal gene pool, the major west African Y-chromosome lineage E3a was observed only at a frequency of 15.9%. Overall, these results indicate that gene flow from multiple sources and various sex-specific patterns have been important in the formation of the genomic diversity in the Cabo Verde islands.
- Phylogenetic relationships of Lygodactylus geckos from the Gulf of Guinea islands: rapid rates of mitochondrial DNA sequence evolution?Publication . Jesus, José; Brehm, António; Harris, D. JamesMitochondrial DNA (12S rRNA, 16S rRNA and cytochrome b) sequences and nuclear sequences (C-mos) were analysed within Lygodactylus thomensis from three volcanic islands in the Gulf of Guinea that have never been connected to the continent. Our aim was to assess interrelationships between the three subspecies to test a recent hypothesis suggesting high rates of mitochondrial DNA (mtDNA) sequence evolution in geckos. Our results indicate, based on mtDNA sequence data, that the three subspecies are genetically differentiated at a level more typically observed between species. However, the forms cannot be differentiated using the nuclear marker C-mos. These results further substantiate the hypothesis of rapid rates of mtDNA sequence evolution in geckos, although the alternative that C-mos is evolving more slowly cannot be discounted. They also suggest that present calibrations for molecular clocks are at the upper limit of divergence over time.
- HLA polymorphysms in Forros and Angolares from São Tomé Island (West Africa): evidence for the population originPublication . Saldanha, Nádia; Spínola, Carla; Santos, Margarida R.; Simões, Joaquim P.; Bruges-Armas, Jácome; Brehm, António; Spínola, Hélder
- Review of the leaf-litter skinks (Scincidae: Panaspis) from the Gulf of Guinea Oceanic Islands, with the description of a new speciesPublication . Soares, Leonor B.; Ceríaco, Luis M. P.; Marques, Mariana P.; Bastos-Silveira, Cristiane; Scheinberg, Lauren A.; Harris, D. James; Brehm, António; Jesus, JoséLeaf-litter skinks of the genus Panaspis are currently represented in the oceanic islands of the Gulf of Guinea by two species, Panaspis africana and P. annobonensis. Here we describe a third species, Panaspis thomensis sp. nov., endemic to São Tomé Island. Data from previous studies and a new phylogenetic analysis using the mitochondrial 16S gene shows that the new species is genetically divergent and reciprocally monophyletic with respect to P. africana. Morphological data (scalation and morphometry) identify consistent, yet subtle, phenotypic differences between the two island populations. We also confirm that P. annobonensis represents a valid species, sister to the species pair P. africana + P. thomensis sp. nov., based on both molecular and morphological evidence. This description raises the number of known Panaspis species in the Gulf of Guinea oceanic islands to three, with consequences for the interpretation of local endemicity.
- Y-chromosome lineages from Portugal, Madeira and Açores record elements of sephardim and berber ancestryPublication . Gonçalves, Rita; Freitas, Ana; Branco, Marta; Rosa, Alexandra; Fernandes, Ana T.; Zhivotovsky, Lev A.; Underhill, Peter A.; Kivisild, Toomas; Brehm, AntónioA total of 553 Y-chromosomes were analyzed from mainland Portugal and the North Atlantic Archipelagos of Ac¸ores and Madeira, in order to characterize the genetic composition of their male gene pool. A large majority (78–83% of each population) of the male lineages could be classified as belonging to three basic Y chromosomal haplogroups, R1b, J, and E3b. While R1b, accounting for more than half of the lineages in any of the Portuguese subpopulations, is a characteristic marker of many different West European populations, haplogroups J and E3b consist of lineages that are typical of the circum-Mediterranean region or even East Africa. The highly diverse haplogroup E3b in Portuguese likely combines sub-clades of distinct origins. The present composition of the Y chromosomes in Portugal in this haplogroup likely reflects a pre-Arab component shared with North African populations or testifies, at least in part, to the influence of Sephardic Jews. In contrast to the marginally low sub-Saharan African Y chromosome component in Portuguese, such lineages have been detected at a moderately high frequency in our previous survey of mtDNA from the same samples, indicating the presence of sex-related gene flow, most likely mediated by the Atlantic slave trade.
- Phylogeography of Y-chromosome haplogroup I reveals distinct domains of Prehistoric gene flow in EuropePublication . Rootsi, Siiri; Kivisild, Toomas; Benuzzi, Giorgia; Help, Hela; Bermisheva, Marina; Kutuev, Ildus; Barać, Lovorka; Peričić, Marijana; Balanovsky, Oleg; Pshenichnov, Andrey; Dion, Daniel; Grobei, Monica; Zhivotovsky, Lev A.; Battaglia, Vincenza; Achilli, Alessandro; Al-Zahery, Nadia; Parik, Jüri; King, Roy; Cinnioğlu, Cengiz; Khusnutdinova, Elsa; Rudan, Pavao; Balanovska, Elena; Scheffrahn, Wolfgang; Simonescu, Maya; Brehm, António; Gonçalves, Rita; Rosa, Alexandra; Moisan, Jean-Paul; Chaventre, Andre; Ferak, Vladimir; Füredi, Sandor; Oefner, Peter J.; Shen, Peidong; Beckman, Lars; Mikerezi, Ilia; Terzić, Rifet; Primorac, Dragan; Cambon-Thomsen, Anne; Krumina, Astrida; Torroni, Antonio; Underhill, Peter A.; Santachiara-Benerecetti, A. Silvana; Villems, Richard; Magri, Chiara; Semino, OrnellaTo investigate which aspects of contemporary human Y-chromosome variation in Europe are characteristic of primary colonization, late-glacial expansions from refuge areas, Neolithic dispersals, or more recent events of gene flow, we have analyzed, in detail, haplogroup I (Hg I), the only major clade of the Y phylogeny that is widespread over Europe but virtually absent elsewhere. The analysis of 1,104 Hg I Y chromosomes, which were identified in the survey of 7,574 males from 60 population samples, revealed several subclades with distinct geographic distributions. Subclade I1a accounts for most of Hg I in Scandinavia, with a rapidly decreasing frequency toward both the East European Plain and the Atlantic fringe, but microsatellite diversity reveals that France could be the source region of the early spread of both I1a and the less common I1c. Also, I1b*, which extends from the eastern Adriatic to eastern Europe and declines noticeably toward the southern Balkans and abruptly toward the periphery of northern Italy, probably diffused after the Last Glacial Maximum from a homeland in eastern Europe or the Balkans. In contrast, I1b2 most likely arose in southern France/Iberia. Similarly to the other subclades, it underwent a postglacial expansion and marked the human colonization of Sardinia approximately 9,000 years ago.