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A genetic chronology for the Indian Subcontinent points to heavily sex-biased d...

Silva, M; Oliveira, M; Vieira, D; Brandão, A; Rito, T; Pereira, JB; Fraser, RM; Hudson, B; Gandini, F; Edwards, C; Pala, M; Koch, J; Wilson, JF

Background: India is a patchwork of tribal and non-tribal populations that speak many different languages from various language families. Indo-European, spoken across northern and central India, and also in Pakistan and Bangladesh, has been frequently connected to the so-called “Indo-Aryan invasions” from Central Asia ~3.5 ka and the establishment of the caste system, but the extent of immigration at this time ...


Dispersals and genetic adaptation of Bantu-speaking populations in Africa and N...

Patin, E; Lopez, M; Grollemund, R; Verdu, P; Harmant, C; Quach, H; Laval, G; Perry, GH; Barreiro, LB; Froment, A; Heyer, E; Massougbodji, A

Bantu languages are spoken by about 310 million Africans, yet the genetic history of Bantu-speaking populations remains largely unexplored. We generated genomic data for 1318 individuals from 35 populations in western central Africa, where Bantu languages originated. We found that early Bantu speakers first moved southward, through the equatorial rainforest, before spreading toward eastern and southern Africa. ...


Reconciling evidence from ancient and contemporary genomes: a major source for ...

Pereira, JB; Costa, MD; Vieira, D; Pala, M; Bamford, L; Harich, N; Cherni, L; Alshamali, F; Hatina, J; Rychkov, S; Stefanescu, G; King, T; Torroni, A

Important gaps remain in our understanding of the spread of farming into Europe, due partly to apparent contradictions between studies of contemporary genetic variation and ancient DNA. It seems clear that farming was introduced into central, northern, and eastern Europe from the south by pioneer colonization. It is often argued that these dispersals originated in the Near East, where the potential source genet...


Genetic stratigraphy of key demographic events in Arabia

Fernandes, V; Triska, P; Pereira, JB; Alshamali, F; Rito, T; Machado, A; Fajkosova, Z; Cavadas, B; Cerny, V; Soares, P; Richards, MB; Pereira, L

At the crossroads between Africa and Eurasia, Arabia is necessarily a melting pot, its peoples enriched by successive gene flow over the generations. Estimating the timing and impact of these multiple migrations are important steps in reconstructing the key demographic events in the human history. However, current methods based on genome-wide information identify admixture events inefficiently, tending to estim...


Benefits of Selective Vitamin D Receptor Activators in Kidney Transplanted Pati...

Ferreira, A; Aires, I; Nolasco, F; Machado, D; Macário, F; Neves, PL; Costa, AG; Cabrita, AMN; Castro, R; Pereira, JB

Severe chronic kidney disease may lead to disturbances, such as hyperphosphatemia, increased secretion of fibroblast growth factor -23 (FGF -23) and vitamin D deficiency. These may increase plasmatic levels of parathyroid hormone, and decrease plasmatic levels of calcium. Altogether, these may contribute to the development of secondary hyperparathyroidism, and to abnormalities in mineral metabolism. Kidney tran...


A substantial prehistoric European ancestry amongst Ashkenazi maternal lineages

Costa, MD; Pereira, JB; Pala, M; Fernandes, V; Olivieri, A; Achilli, A; Perego, UA; Rychkov, S; Naumova, O; Hatina, J; Woodward, SR; Eng, KK

The origins of Ashkenazi Jews remain highly controversial. Like Judaism, mitochondrial DNA is passed along the maternal line. Its variation in the Ashkenazim is highly distinctive, with four major and numerous minor founders. However, due to their rarity in the general population, these founders have been difficult to trace to a source. Here we show that all four major founders, ~40% of Ashkenazi mtDNA variatio...


Mitochondrial DNA signals of Late Glacial recolonization of Europe from Near Ea...

Pala, M; Olivieri, A; Achilli, A; Accetturo, M; Metspalu, E; Reidla, M; Tamm, E; Karmin, M; Reisberg, T; Hooshiar Kashani, B; Perego, UA; Carossa, V

Human populations, along with those of many other species, are thought to have contracted into a number of refuge areas at the height of the last Ice Age. European populations are believed to be, to a large extent, the descendants of the inhabitants of these refugia, and some extant mtDNA lineages can be traced to refugia in Franco-Cantabria (haplogroups H1, H3, V, and U5b1), the Italian Peninsula (U5b3), and t...


The expansion of mtDNA haplogroup L3 within and out of Africa

Soares, P; Alshamali, F; Pereira, JB; Fernandes, V; Silva, NM; Afonso, C; Costa, MD; Musilová, E; Macaulay, V; Richards, MB; Cerny, V; Pereira, L

Although fossil remains show that anatomically modern humans dispersed out of Africa into the Near East ∼100 to 130 ka, genetic evidence from extant populations has suggested that non-Africans descend primarily from a single successful later migration. Within the human mitochondrial DNA (mtDNA) tree, haplogroup L3 encompasses not only many sub-Saharan Africans but also all ancient non-African lineages, and its ...


The Arabian cradle: Mitochondrial relicts of the first steps along the southern...

Fernandes, V; Alshamali, F; Alves, M; Costa, MD; Pereira, JB; Silva, NM; Cherni, L; Harich, N; Cerny, V; Soares, P; Richards, MB; Pereira, L

A major unanswered question regarding the dispersal of modern humans around the world concerns the geographical site of the first human steps outside of Africa. The "southern coastal route" model predicts that the early stages of the dispersal took place when people crossed the Red Sea to southern Arabia, but genetic evidence has hitherto been tenuous. We have addressed this question by analyzing the three mino...


The trans-Saharan slave trade – clues from interpolation analyses and high-reso...

Harich, N; Costa, MD; Fernandes, V; Kandil, M; Pereira, JB; Silva, NM; Pereira, L

BACKGROUND: A proportion of 1/4 to 1/2 of North African female pool is made of typical sub-Saharan lineages, in higher frequencies as geographic proximity to sub-Saharan Africa increases. The Sahara was a strong geographical barrier against gene flow, at least since 5,000 years ago, when desertification affected a larger region, but the Arab trans-Saharan slave trade could have facilitate enormously this migrat...


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