The peopling of the last Green Sahara revealed by high-coverage resequencing of trans-Saharan patrilineages

Little is known about the peopling of the Sahara during the Holocene climatic optimum, when the desert was replaced by a fertile environment

Complete mitochondrial DNA sequences provide new insights into the Polynesian motif and the peopling of Madagascar

More than a decade of mitochondrial DNA (mtDNA) studies have given the 'Polynesian motif' renowned status as a marker for tracing the late-Holocene expansion of Austronesian speaking populations. Despite considerable research on the Polynesian motif in Oceania, there has been little equivalent work on the western edge of its expansion - leaving major issues unresolved regarding the motif's evolutionary history. This has also led to considerable uncertainty regarding the settlement of Madagascar. In this study, we assess mtDNA variation in 266 individuals from three Malagasy ethnic groups: the Mikea, Vezo, and Merina. Complete mtDNA genome sequencing reveals a new variant of the Polynesian motif in Madagascar; two coding region mutations define a Malagasy-specific sub-branch. This newly defined 'Malagasy motif' occurs at high frequency in all three ethnic groups (13-50%), and its phylogenetic position, geographic distribution, and estimated age all support a recent origin, but without conclusively identifying a specific source region. Nevertheless, the haplotype's limited diversity, similar to those of other mtDNA haplogroups found in our Malagasy groups, best supports a small number of initial settlers arriving to Madagascar through the same migratory process. Finally, the discovery of this lineage provides a set of new polymorphic positions to help localize the Austronesian ancestors of the Malagasy, as well as uncover the origin and evolution of the Polynesian motif itself

GM and KM immunoglobulin allotypes in the Galician population: new insights into the peopling of the Iberian Peninsula

<p>Abstract</p> <p>Background</p> <p>The current genetic structure of Iberian populations has presumably been affected by the complex orography of its territory, the different people and civilizations that settled there, its ancient and complex history, the diverse and persistent sociocultural patterns in its different regions, and also by the effects of the Iberian Peninsula representing a refugium area after the last glacial maximum. This paper presents the first data on <it>GM </it>and <it>KM </it>immunoglobulin allotypes in the Galician population and, thus, provides further insights into the extent of genetic diversity in populations settled in the geographic extremes of the Cantabrian region of northern Spain. Furthermore, the genetic relationships of Galicians with other European populations have been investigated.</p> <p>Results</p> <p>Galician population shows a genetic profile for <it>GM </it>haplotypes that is defined by the high presence of the European Mediterranean <it>GM</it>*<it>3 23 5* </it>haplotype, and the relatively high incidence of the African marker <it>GM*1,17 23' 5*</it>. Data based on comparisons between Galician and other Spanish populations (mainly from the north of the peninsula) reveal a poor correlation between geographic and genetic distances (<it>r </it>= 0.30, <it>P </it>= 0.105), a noticeable but variable genetic distances between Galician and Basque subpopulations, and a rather close genetic affinity between Galicia and Valencia, populations which are geographically separated by a long distance and have quite dissimilar cultures and histories. Interestingly, Galicia occupies a central position in the European genetic map, despite being geographically placed at one extreme of the European continent, while displaying a close genetic proximity to Portugal, a finding that is consistent with their shared histories over centuries.</p> <p>Conclusion</p> <p>These findings suggest that the population of Galicia is the result of a relatively balanced mixture of European populations or of the ancestral populations that gave rise to them. This would support the importance of the migratory movements that have taken place in Europe over the course of recent human history and their effects on the European genetic landscape.</p

Early holocenic and historic mtDNA african signatures in the iberian peninsula: The andalusian region as a paradigm

Determining the timing, identity and direction of migrations in the Mediterranean Basin, the role of "migratory routes" in and among regions of Africa, Europe and Asia, and the effects of sex-specific behaviors of population movements have important implications for our understanding of the present human genetic diversity. A crucial component of the Mediterranean world is its westernmost region. Clear features of transcontinental ancient contacts between North African and Iberian populations surrounding the maritime region of Gibraltar Strait have been identified from archeological data. The attempt to discern origin and dates of migration between close geographically related regions has been a challenge in the field of uniparental-based population genetics. Mitochondrial DNA (mtDNA) studies have been focused on surveying the H1, H3 and V lineages when trying to ascertain north-south migrations, and U6 and L in the opposite direction, assuming that those lineages are good proxies for the ancestry of each side of the Mediterranean. To this end, in the present work we have screened entire mtDNA sequences belonging to U6, M1 and L haplogroups in Andalusians--from Huelva and Granada provinces--and Moroccan Berbers. We present here pioneer data and interpretations on the role of NW Africa and the Iberian Peninsula regarding the time of origin, number of founders and expansion directions of these specific markers. The estimated entrance of the North African U6 lineages into Iberia at 10 ky correlates well with other L African clades, indicating that U6 and some L lineages moved together from Africa to Iberia in the Early Holocene. Still, founder analysis highlights that the high sharing of lineages between North Africa and Iberia results from a complex process continued through time, impairing simplistic interpretations. In particular, our work supports the existence of an ancient, frequently denied, bridge connecting the Maghreb and Andalusia.Financial support was provided by the Spanish Ministry of Competitiveness through Research Project CGL2010-15191/BOS granted to RC and International Mobility Program Acciones Integradas Hispano-Portuguesas (PRI-AIBPT-2011-1004) granted to RC (Spain) and LP (Portugal) (http://www.mineco.gob.es/portal/site/mineco/idi). The E.C. Sixth Framework Programme under Contract n° ERAS-CT-2003-980409 (EUROCORES project of the European Science Foundation) also provided financial support to JMD for North African population research. CLH has a predoctoral fellowship granted by Complutense University. PS is supported by FCT Investigator Programme (IF/01641/2013). IPATIMUP (https://www.ipatimup.pt/) integrates the Instituto the Investigação em Saúde (i3S) Research Unit, which is partially supported by FCT, the Portuguese Foundation for Science and Technology. IPATIMUP is funded by FEDER funds through the Operational Programme for Competitiveness Factors - COMPETE and National Funds through the FCT - under the project PEst-C/SAU/LA0003/2013. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript

BamHI and SacI RFLPs of the human immunoglobulin IGHG genes with reference to the Gm polymorphism in African people. Evidence for a major polymorphism.

International audienceIn this paper, we extend the study of the IGHG gene RFLPs in black African persons and in some other individuals characterized by a Negroid admixture. We demonstrate a polymorphism that is much more important in black Africans, than in Caucasoids, mainly for the IGHG3 and G1 genes, the most 5' members of the IGHG multigene family. These genes encode for the IgG3 and IgG1 subclasses, which are of crucial biological importance

Genetic evidence in support of a shared Eurasian-North African dairying origin

The process by which pastoralism and agriculture spread from the Fertile Crescent over the past 10,000 years has been the subject of intense investigation by geneticists, linguists and archaeologists. However, no consensus has been reached as to whether this Neolithic transition is best characterized by a demic diffusion ( with a significant genetic input from migrating farmers) or a cultural diffusion ( without substantial migration of farmers). Milk consumption and thus lactose tolerance are assumed to have spread with pastoralism and we propose that by looking at the relevant mutations in and around the lactase gene in human populations, we can gain insight into the origin(s) and spread of dairying. We genotyped the putatively causal allele for lactose tolerance ( - 13910T) and constructed haplotypes from several polymorphisms in and around the lactase gene (LCT) in three North African Berber populations and compared our results with previously published data. We found that the frequency of the - 13910T allele predicts the frequency of lactose tolerance in several Eurasian and North African Berber populations but not in most sub-Saharan African populations. Our analyses suggest that contemporary Berber populations possess the genetic signature of a past migration of pastoralists from the Middle East and that they share a dairying origin with Europeans and Asians, but not with sub-Saharan Africans. [References: 59

Characterisation of the digital dermatoglypic in a berber population of the high Atlas (Marrakesh, Morrocco)

International audienc

Diversité génétique (allotypie GM et STRs) des populations Berbères et peuplement du nord de l'Afrique

The origin of the Berber populations is not clearly established today but their ancestors are considered as the oldest inhabitants of North Africa since the Upper Palaeolithic or the Neolithic. Then, the historical period is marked by successive invasions and conquests that caused important changes on North-African autochthonous people. By studying present-day Berber populations it may be possible to describe both cultural and religious changes, in the context of the North-African settlement. Within the EUROCORES framework "The Origin of Man, Language and Languages" (OMLL), we describe here the genetic structure of several Berberspeakers. We study 2 genetic polymorphisms: the GM immunoglobulin allotypic system and 13 autosomal microsatellites (STR). The aim of the work is to characterize both the cultural and genetic relationships between North-African Berbers and between the Berbers and geographically related populations. The analyses reveal the correspondence between GM and STR results. We see (1) a clear genetic differentiation between North-West and North-East African Berbers; (2) a relationship between North-West African Berbers and South-West European populations; (3) in Morocco, a genetic distinction between Arabic- and Berber-speakers. Finally, it seems that the present-day Berbers bear some old traces of the North- African settlement. Moreover, they have preserved their cultural identity in spite of the successive past events.L'origine des populations berbères n'est pas encore clairement établie mais on considère aujourd'hui leurs ancêtres comme les plus anciens habitants du nord de l'Afrique, probablement depuis le Paléolithique supérieur ou le Néolithique. Ces hommes ont ensuite connu un passé historique marqué par de nombreuses invasions et conquêtes qui ont induit de profonds changements sur les autochtones nord-africains. Ces impacts, à la fois culturels et génétiques, peuvent être appréhendés par l'étude des populations berbères actuelles permettant ainsi d'apporter des éléments de réponse sur la question du peuplement du nord de l'Afrique. Dans le cadre d'un projet EUROCORES " Origin of Man, Language and Languages " (OMLL), le présent travail décrit la structure génétique de différentes populations berbérophones à l'aide de 2 polymorphismes autosomaux : le système allotypique GM des immunoglobulines et 13 microsatellites ou Short Tandem Repeats (STR). Notre objectif est de décrire les relations génétiques et culturelles entre les populations berbérophones et de retracer les degrés de parenté entre celles-ci et des populations voisines de culture et de langue différentes. Nos analyses révèlent une concordance entre les résultats obtenus d'après l'étude du système GM et ceux apportés par les polymorphismes STR. Nous constatons ainsi (1) une nette différenciation génétique entre les populations berbères nord-ouest et nord-est africains ; (2) une proximité entre les Berbères nord-ouest africains et les populations sud-ouest européennes ; (3) une absence de distinction génétique entre arabophones et berbérophones marocains