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Phylogeography of sub-Saharan mitochondrial lineages outside Africa highlights ...

Sá, Luísa; Almeida, Mafalda; Azonbakin, Simon; Matos, Erica; Franco-Duarte, Ricardo; Gómez-Carballa, Alberto; Salas, Antonio; Laleye, Anatóle

Despite the importance of ancient DNA for understanding human prehistoric dispersals, poor survival means that data remain sparse for many areas in the tropics, including in Africa. In such instances, analysis of contemporary genomes remains invaluable. One promising approach is founder analysis, which identifies and dates migration events in non-recombining systems. However, it has yet to be fully exploited as...


Biomolecular insights into North African-related ancestry, mobility and diet in...

Silva, Marina; Oteo-García, Gonzalo; Martiniano, Rui; Guimarães, João; von Tersch, Matthew; Madour, Ali; Shoeib, Tarek; Fichera, Alessandro

Historical records document medieval immigration from North Africa to Iberia to create Islamic al-Andalus. Here, we present a low-coverage genome of an eleventh century CE man buried in an Islamic necropolis in Segorbe, near Valencia, Spain. Uniparental lineages indicate North African ancestry, but at the autosomal level he displays a mosaic of North African and European-like ancestries, distinct from any prese...


Phylogeography of 27,000 SARS-CoV-2 genomes: Europe as the major source of the ...

Rito, Teresa S; Richards, Martin B.; Pala, Maria; Correia-Neves, M; Soares, Pedro

The novel coronavirus SARS-CoV-2 emerged from a zoonotic transmission in China towards the end of 2019, rapidly leading to a global pandemic on a scale not seen for a century. In order to cast fresh light on the spread of the virus and on the effectiveness of the containment measures adopted globally, we used 26,869 SARS-CoV-2 genomes to build a phylogeny with 20,247 mutation events and adopted a phylogeographi...


Rectifying long-standing misconceptions about the ρ statistic for molecular dating

Macaulay, Vincent; Soares, Pedro; Richards, Martin B.

When divided by a given mutation rate, the ρ (rho) statistic provides a simple estimator of the age of a clade within a phylogenetic tree by averaging the number of mutations from each sample in the clade to its root. However, a long-standing critique of the use of ρ in genetic dating has been quite often cited. Here we show that the critique is unfounded. We demonstrate by a formal mathematical argument and il...


Association of leukotriene A4 hydrolase with tuberculosis susceptibility using ...

Rito, Teresa; Ferreira, Joana; Cavadas, Bruno; Soares, Pedro; Oliveira, Olena; Richards, Martin B.; Duarte, Raquel; Pereira, Luísa; Correia-Neves, M

Leukotriene A4 hydrolase (LTA4H) is a key enzyme in the eicosanoid pathway. <i>lta4h</i> locus polymorphisms have previously been linked to tuberculosis (TB) susceptibility and disease outcome in a Vietnamese dataset, but further studies suggested that those results were poorly reproducible. We, therefore, compared the full set of variants (113 SNPs) within the gene in a Portuguese dataset of 112 TB patients an...


Maternal relationships within an Iron Age burial at the High Pasture Cave, Isle...

Dulias, Katharina; Birch, Steven; Wilson, James F.; Justeau, Pierre; Gandini, Francesca; Flaquer, Antònia; Soares, Pedro; Richards, Martin B.

Human remains from the Iron Age in Atlantic Scotland are rare, which makes the assemblage of an adult female and numerous foetal bones at High Pasture Cave, on the Isle of Skye, particularly noteworthy. Archaeological evidence suggests that the female had been deposited as an articulated skeleton when the cave entrance was blocked off, marking the end of use of the site. Particularly intriguing is the depositio...


A dispersal of Homo sapiens from southern to eastern Africa immediately precede...

Rito, Teresa S; Vieira, Daniel; Silva, Marina; Conde-Sousa, Eduardo; Pereira, Luísa; Mellars, Paul; Richards, Martin B.; Soares, Pedro

Africa was the birth-place of Homo sapiens and has the earliest evidence for symbolic behaviour and complex technologies. The best-attested early flowering of these distinctive features was in a glacial refuge zone on the southern coast 100-70 ka, with fewer indications in eastern Africa until after 70 ka. Yet it was eastern Africa, not the south, that witnessed the first major demographic expansion, ~70-60 ka,...


On methodological issues in the Indo-European debate by Michel Danino

Silva, Marina; Koch, John T.; Pala, Maria; Edwards, Ceiridwen J.; Soares, Pedro; Richards, Martin B.

[Excerpt] The prehistories of the population and languages of India are scientific questions (Majumder 2018). Unlike questions decided in mathematics or a court of law, scientific questions cannot lead to definitive proof. Rather, new evidence and advances in methods will bring a succession of improved models that account better for wider ranges of more accurately documented evidence. There will always be doubt...


The genomic history of the Iberian Peninsula over the past 8000 years

Olalde, Iñigo; Mallick, Swapan; Patterson, Nick; Rohland, Nadin; Villalba-Mouco, Vanessa; Silva, Marina; Dulias, Katharina; Edwards, Ceiridwen J.

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, ...


Mitogenome diversity in Sardinians: a genetic window onto an island's past

Olivieri, Anna; Sidore, Carlo; Achilli, Alessandro; Angius, Andrea; Posth, Cosimo; Furtwängler, Anja; Brandini, Stefania; Capodiferro, Marco Rosario

Sardinians are "outliers" in the European genetic landscape and, according to paleogenomic nuclear data, the closest to early European Neolithic farmers. To learn more about their genetic ancestry, we analyzed 3,491 modern and 21 ancient mitogenomes from Sardinia. We observed that 78.4% of modern mitogenomes cluster into 89 haplogroups that most likely arose in situ. For each Sardinian-specific haplogroup (SSH)...


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