Y-chromosome diversity in central Portugal reveals signatures of ancient maritime expansions

BMC genetics, 2017

The structure of haplogroup H reveals significant differences between the western and eastern edges of the Mediterranean, as well as between the northern and southern regions. Human populations along the westernmost Mediterranean coasts, which were settled by individuals from two continents separated by a relatively narrow body of water, show the highest frequencies of mitochondrial haplogroup H. These characteristics permit the analysis of ancient migrations between both shores, which may have occurred via primitive sea crafts and early seafaring. We collected a sample of 750 autochthonous people from the southern Iberian Peninsula (Andalusians from Huelva and Granada provinces). We performed a high-resolution analysis of haplogroup H by control region sequencing and coding SNP screening of the 337 individuals harboring this maternal marker. Our results were compared with those of a wide panel of populations, including individuals from Iberia, the Maghreb, and other regions around ...

Human Biology, 2005

Nine Atlantic islands with approximately five and a half centuries of demographic history constitute the Portuguese archipelago of the Azores. Despite the recent peopling history of these islands, written records regarding the specific origin and relative proportions of the first settlers are scarce and incomplete. To gain insights into the history of the peopling of the Azores and to evaluate to what extent population imports described in historical sources left their marks on the genetic constitution of the presentday populations, we analyzed 11 Y-chromosome biallelic markers in a sample of 145 unrelated individuals of Azorean ancestry. The main results of this study indicate that the genetic profile of the Azorean male population shows high affinities with that of mainland Portugal, in accordance with the general knowledge, derived from historical sources, that the Portuguese were the major contributors to the Azorean founding population. Nevertheless, genetic traces of settlers from other origins also mentioned in historical records can still be found in the present-day population. Thus typically sub-Saharan male lineages were detected in the archipelago, in contrast to what has been described for mainland Portugal. Furthermore, compared to what has been described for the mainland Portugal population, our data support a stronger influence of people of Jewish origin, as detected by an increased frequency of lineages belonging to haplogroup J.

Scientific reports, 2018

In order to improve the phylogeography of the male-specific genetic traces of Greek and Phoenician colonizations on the Northern coasts of the Mediterranean, we performed a geographically structured sampling of seven subclades of haplogroup J in Turkey, Greece and Italy. We resequenced 4.4 Mb of Y-chromosome in 58 subjects, obtaining 1079 high quality variants. We did not find a preferential coalescence of Turkish samples to ancestral nodes, contradicting the simplistic idea of a dispersal and radiation of Hg J as a whole from the Middle East. Upon calibration with an ancient Hg J chromosome, we confirmed that signs of Holocenic Hg J radiations are subtle and date mainly to the Bronze Age. We pinpointed seven variants which could potentially unveil star clusters of sequences, indicative of local expansions. By directly genotyping these variants in Hg J carriers and complementing with published resequenced chromosomes (893 subjects), we provide strong temporal and distributional evid...

The status on the origins of haplogroup R1b remains split between the Iberian Peninsula prior to the Last Glacial Maximum (LGM) and a West Asian origin coinciding with the Neolithic expansion. The majority of focus on subgroup R1b-V88 has concentrated on African populations and neglected European and West Asian populations. To get a complete understanding of the back to Africa migration, a holistic network approach is necessary. Biogeographical Multilateration (BGM) illustrates directional flow as well as chronological and physical origins at the haplogroup level. The resulting phylogenetic relationships for R1b-V88 support an Iberian origin, a Mediterranean expansion and a Europe to Africa back migration.

Annals of Human Genetics, 2005

We determined the Y-chromosomal composition of the population of the Azores Islands (Portugal), by analyzing 20 binary polymorphisms located in the non-recombining portion of the Y-chromosome (NRY), in 185 unrelated individuals from the three groups of islands forming the Archipelago (Eastern, Central and Western). Similar to that described for other Portuguese samples, the most frequent haplogroups were R1(xR1b3f) (55.1%), E(xE3a) (13%) and J (8.6%). Principal components analysis revealed a Western European profile for the Azorean population. No significant differences between Azores and mainland Portugal were observed. However, the haplogroup distribution across the three groups of islands was not similar (P < 0.003). The Western group presented differences in the frequencies of haplogroups R1, E(xE3a) and I1b2 (27.3%, 22.7% and 13.6%, respectively) when compared to the other two groups. An assessment of the NRY variability, and its comparison with mitochondrial DNA (mtDNA) variability, was further evidence of the differential composition of males during the settlement of the three groups of islands, contrary to what has been previously deduced for the female settlers using mtDNA data.

2014

"The archeology and history of the ancient Mediterranean have shown that this sea has been a permeable obstacle to human migration. Multiple cultural exchanges around the Mediterranean have taken place with presumably population admixtures. A gravitational territory of those migrations has been the Iberian Peninsula. Here we present a comprehensive analysis of the maternal gene pool, by means of control region sequencing and PCR-RFLP typing, of autochthonous Andalusians originating from the coastal provinces of Huelva and Granada, located respectively in the west and the east of the region. The mtDNA haplogroup composition of these two southern Spanish populations has revealed a wide spectrum of haplogroups from different geographical origins. The registered frequencies of Eurasian markers, together with the high incidence and diversification of African maternal lineages (15% of the total mitochondrial variability) among Huelva Andalusians when compared to its eastwards relatives of Granada and other Iberian populations, constitute relevant findings unknown up-to-date on the characteristics of mtDNA within Andalusia that testifies a female population substructure. Therefore, Andalusia must not be considered a single, unique population. The maternal legacy among Andalusians reflects distinctive local histories, pointing out the role of the westernmost territory of Peninsular Spain as a noticeable recipient of multiple and diverse human migrations. The obtained results underline the necessity of further research on genetic relationships in both sides of the western Mediterranean, using carefully collected samples from autochthonous individuals. Many studies have focused on recent North African gene flow towards Iberia, yet scientific attention should be now directed to thoroughly study the introduction of European genes in northwest Africa across the sea, in order to determine its magnitude, timescale and methods, and to compare them to those terrestrial movements from eastern Africa and southwestern Asia."

Science, 2019

Ancient DNA studies have begun to help us understand the genetic history and movements of people across the globe. Focusing on the Iberian Peninsula, Olalde et al. report genome-wide data from 271 ancient individuals from Iberia (see the Perspective by Vander Linden). The findings provide a comprehensive genetic time transect of the region. Linguistics analysis and genetic analysis of archaeological human remains dating from about 7000 years ago to the present elucidate the genetic impact of prehistoric and historic migrations from Europe and North Africa. ************** We assembled genome-wide data from 271 ancient Iberians, of whom 176 are from the largely unsampled period after 2000 BCE, thereby providing a high-resolution time transect of the Iberian Peninsula. We document high genetic substructure between northwestern and southeastern hunter-gatherers before the spread of farming. We reveal sporadic contacts between Iberia and North Africa by ~2500 BCE and, by ~2000 BCE, the replacement of 40% of Iberia’s ancestry and nearly 100% of its Y-chromosomes by people with Steppe ancestry. We show that, in the Iron Age, Steppe ancestry had spread not only into Indo-European–speaking regions but also into non-Indo-European–speaking ones, and we reveal that present-day Basques are best described as a typical Iron Age population without the admixture events that later affected the rest of Iberia. Additionally, we document how, beginning at least in the Roman period, the ancestry of the peninsula was transformed by gene flow from North Africa and the eastern Mediterranean.

International Congress Series, 2004

Mitochondrial DNA (mtDNA) lineages of 354 male samples from the five districts of Northern Portugal were defined. The aim was to obtain the female demographic history of this region and to compare it with the one obtained from Y chromosome haplotypes. The mtDNA landscape of North Portugal is in agreement with the one obtained from Y chromosome analysis, suggesting an East-West gradient in haplotype diversity. However, contrary to what happens with the Y chromosome, the easternmost district was the most diverse. Several explanations for this contrasting pattern are advanced.

2000

São dois os principais mecanismos que têm sido propostos para a transição do Mesolítico ao Neolítico em Portugal: adopção e colonização. Do ponto de vista da Genética, as duas alternativas podem ser colocadas em termos de continuidade ou descontinuidade entre os dois lados da transição. Este estudo descreve uma comparação genética entre populações do Mesolítico e do Neolítico antigo usando ADN antigo.

Scientific Reports

Ibiza was permanently settled around the 7 th century BCE by founders arriving from west Phoenicia. The founding population grew significantly and reached its height during the 4 th century BCE. We obtained nine complete mitochondrial genomes from skeletal remains from two Punic necropoli in Ibiza and a Bronze Age site from Formentara. We also obtained low coverage (0.47X average depth) of the genome of one individual, directly dated to 361-178 cal BCE, from the Cas Molí site on Ibiza. We analysed and compared ancient DNA results with 18 new mitochondrial genomes from modern Ibizans to determine the ancestry of the founders of Ibiza. The mitochondrial results indicate a predominantly recent European maternal ancestry for the current Ibizan population while the whole genome data suggest a significant Eastern Mediterranean component. Our mitochondrial results suggest a genetic discontinuity between the early Phoenician settlers and the island's modern inhabitants. Our data, while limited, suggest that the Eastern or North African influence in the Punic population of Ibiza was primarily male dominated. The Phoenician culture was one of the most prevailing and widespread in the history of the Mediterranean basin. From its rise in the northern Levant, the Phoenicians connected east and west for over a millennium through their established trade networks across the Mediterranean, reaching beyond the Straits of Gibraltar. One of their first western outposts was the city of Gadir, modern Cadiz, on the Atlantic coast of Spain 1 believed to be initially settled around 1100 BCE, then became a fully-fledged Phoenician settlement by the end of the 9 th century BCE 2. Additional Phoenician settlements were established on the Balearic islands, Sardinia, Sicily, Malta, and Cyprus 2. These Islands form a strategic arc across the northern Mediterranean allowing for island hopping from the Levantine homeland to the Iberian Peninsula and North African coast where they established their most dominant Western Mediterranean settlement in Carthage. The early Phoenician settlements in the Western Mediterranean are generally referred to as Western Phoenicia. From the middle of the sixth century BCE onwards, with the shift in Phoenician influence from the Levant to Carthage, they are typically referred to as Punic, and from the 6 th century BCE onward this term has become synonymous to Phoenicians outside the Levant. Our previous research has shown that the Phoenician settlers who encountered indigenous communities already living on the islands that they settled were integrated to form the new Phoenician societies 3. Archaeological evidence on the largest of the Balearic Islands, Mallorca and Menorca, indicates continuous settlement since the 3rd millennium BCE. Limited evidence favours some level of continuity of prehistoric settlement in Ibiza from the end of Bronze Age until the arrival of Phoenicians in the 7 th century BCE 4. These Bronze Age settlements however, had relatively small populations compared to the larger Balearic Islands 5-7. Ancient DNA analyses of human remains from early Ibizan sites can therefore provide evidence as to the origins of the Phoenician settlers of the island and the relationship between these early settlers and the modern population of