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- 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.
- 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.
- The Y-chromosome short tandem repeats variation within haplogroup E3b: evidence of recurrent mutation in SNPPublication . Fernandes, A. T.; Rosa, A.; Gonçalves, R.; Jesus, José; Brehm, A.Haplogroup E3b is defined by a single nucleotide mutation (SNP) in locus M35 and is found at high fre quency (more than 35%) in populations from North Africa with a heterogeneous distribution. On the basis of compilation of 553 Y-chromosomes from Europe and 633 from sub-Saharan Africa we selected 130 individuals belonging to haplogroup E3b and characterized subhaplogroups according to the Y-Chromosome Consortium nomenclature. Y-chromosome haplo types can be defined using short tandem repeats (STR). The use of STRs makes it possible to measure diversity and esti mate age coalescence. Significant differences on frequencies of Y-chromosome STR loci were found among the E3b sub haplogroups and the same was observed when haplotype frequencies were considered. Some mutations in SNPs were detected when comparing E3b subhaplogroups with the correspondent STR haplotypes. These results show that the mutation rate for some SNPs could be higher than previously thought and also that it is important to associate both haplo type and haplogroup in Y-chromosome studies
- Y-chromosome lineages in São Tomé e Príncipe and Cabo Verde islands: different input of european influencePublication . Gonçalves, Rita; Spínola, Hélder; Brehm, AntónioThe Y-chromosome haplogroup composition of the population of Sa˜o Tome´ e Prı´ncipe and Cabo Verde Archipelagos was profiled by using 24 biallelic markers, and compared with populations from Europe, Africa and the Middle East. According to the traditional view, these archipelagos colonized by the Portuguese in the 15th century were settled mainly by West African slaves, with the addition of a minor fraction of male colonizers from Europe. Although the major proportion of the founding population of Sa˜o Tome´ e Prı´ncipe cluster in haplogroup E3a (84.2%), very common among sub-Saharans, this lineage was observed at a frequency of only 15.9% in Cabo Verde. Haplogroups I, J and R1, characterized of populations of Europe and the Middle East account for more than half of the paternal lineages of Cabo Verdeans (53.5%). These West Eurasian haplogroups are found at a frequency of only 12.5% in the population of Sa˜o Tome´ e Prı´ncipe. Our findings suggest that despite the sub-Saharan genetic background of these archipelagos, a relevant contribution of European paternal lineages is present in nowadays populations indicating that gene flow from multiple sources have been important in the formation of the diversity of the islanders, nevertheless with a different degree of admixture.
- Y-Chromosome lineages in São Tomé e Príncipe Islands: evidence of european influencePublication . Gonçalves, Rita; Spínola, Hélder; Brehm, AntónioThe Y-chromosome haplogroup composition of the population of Sa ˜ o Tome ´ e Prı ´ ncipe (STP) archipelago was analyzed using 25 biallelic markers and compared with popula- tions of different origins from Europe, Africa, and the Middle East. Two main Y-chromosome haplogroups were found: E3a, very common among sub-Saharans accounts for 84.2% of the pa- ternal lineages and R1b, typical of West Eurasia, represents 8.7% of the overall male popula- tion. Nevertheless, we detected in the population of STP a significant heterogeneous distribu- tion of R1b among the two main ethnic groups of the archipelago: Forros (10.3%) and Angolares (6.6%). Together, haplogroups known to be prevalent in West Eurasia reach 12.5% of the chro- mosomes analyzed unequally distributed among the two groups: Forros present 17.7% while Angolares display only 8.2% of west Eurasian haplogroups. Our findings suggest that, despite its sub-Saharan genetic background, a relevant contribution of European paternal lineages is present in nowadays STP population. This influence has shown to be stronger in Forros than in Angolares, which could be explained by the social isolation that these have last experienced through their history. Am. J. Hum. Biol. 19:422–428, 2007.
- Microsatellite variability in natural populations of the blackspot seabream Pagellus bogaraveo (Brunnick, 1768): a database to access parentage assignment in aquaculturePublication . Lemos, Andreia; Freitas, Ana Isabel; Fernandes, Ana Teresa; Gonçalves, Rita; Jesus, José; Andrade, Carlos; Brehm, AntónioEight microsatellite loci previously reported were as sessed for their utility in parentage assignment in 96 individuals belonging to natural populations of the blackspot seabream Pagellus bogaraveo (Brˇnnick, 1768) from the Mediterranean and Northeast Atlantic regions. At the mtDNA level, no di¡erentiation was found between these two regions but based on micro satellite data an overall discrete genetic di¡erentiation is perceivable between the two regions separated by the Strait of Gibraltar. The number of alleles per locus ranged from 8 to 30. A database constructed with al lele frequency data from six populations was used in a simulation parentage assignment test using the software CERVUS. The test showed that the number of markers used is enough to perform parentage assign ments with real data. The polymorphic information content for each locus was very high (mean value of 0.849), with a total exclusionary power of 0.9995. In summary, seven of the eight microsatellites analysed proved to be su⁄cient and powerful tools for parent age assignment in hatcheries and the allele frequency data given here can be used to perform pedigree ana lysis against which real data may be tested.
- Structure and genetic variation of the mitochondrial control region in the honey bee Apis melliferaPublication . Gonçalves, Rita; Freitas, Ana Isabel; Jesus, José; De la Rúa, Pilar; Brehm, AntonioAlthough the mitochondrial molecule of the honey bee is completely sequenced, the control region is rarely used for genetic inferences as in other invertebrates, due to several constraints mainly a biased A plus T content and extensive variable length repeats. Herein, we have analyzed the control region of honey bees from the Iberian Peninsula and North Atlantic islands. The information retrieved when comparing individuals from different populations was crucial to understand and characterize how the control region is organized in this species. As expected, this region in Apis mellifera appears to contain valuable although limited genetic information at the population level. Furthermore, the comparisons of the A. mellifera control region with other species of the same genus highlight the structural role of particular sequences within the A+T rich control region as proposed here.
- Analysis of Y-chromosome and mtDNA variability in the Madeira Archipelago populationPublication . Fernandes, Ana T.; Gonçalves, Rita; Rosa, Alexandra; Brehm, AntónioThe Atlantic archipelago of Madeira is made up of two islands (Madeira and Porto Santo) with 250,000 inhabitants. These islands were discovered and settled by the Portuguese in the 15th century and played an important role in the complex Atlantic trade network in the following centuries. The genetic composition of the Madeira Islands’ population was investigated by analyzing Y-chromosomal bi-allelic and STR markers in three different regions of the main island plus Porto Santo. We compared the results with mtDNA data and used the Y-chromosome STRs to determine the variability within each haplogroup. A sample of 142 unrelated males divided into four groups (Funchal City, West Madeira, North and East Madeira and Porto Santo) were analyzed. Significant genetic differences between these regions and the population of Funchal were found. The population of Funchal had lower gene diversity than expected.
- Y-chromosomal STRs in two populations from Israel and the Palestinian Authority Area: Christian and Muslim ArabsPublication . Fernandes, Ana Teresa; Gonçalves, Rita; Gomes, Sara; Filon, Dvora; Nebel, Almut; Faerman, Marina; Brehm, António