Whole mitogenomes reveal that NW Africa has acted both as a source and a destination for multiple human movements.

Despite being enclosed between the Mediterranean Sea and the Sahara Desert, North Africa has been the scenario of multiple human migrations that have shaped the genetic structure of its present-day populations. Despite its richness, North Africa remains underrepresented in genomic studies. To overcome this, we have sequenced and analyzed 264 mitogenomes from the Algerian Chaoui-speaking Imazighen (a.k.a. Berbers) living in the Aurès region. The maternal genetic composition of the Aurès is similar to Arab populations in the region, dominated by West Eurasian lineages with a moderate presence of M1/U6 North African and L sub-Saharan lineages. When focusing on the time and geographic origin of the North African specific clades within the non-autochthonous haplogroups, different geographical neighboring regions contributed to the North African maternal gene pool during time periods that could be attributed to previously suggested admixture events in the region, since Paleolithic times to recent historical movements such as the Arabization. We have also observed the role of North Africa as a source of geneflow mainly in Southern European regions since Neolithic times. Finally, the present work constitutes an effort to increase the representation of North African populations in genetic databases, which is key to understand their history.

Population analysis of complete mitogenomes for 334 samples from El Salvador.

The use of mitochondrial DNA (mtDNA) in the field of forensic genetics is widely spread mainly due to its advantages when identifying highly degraded samples. In this sense, massive parallel sequencing has made the analysis of the whole mitogenome more accessible, noticeably increasing the informativeness of mtDNA haplotypes. The civil war (1980-1992) in El Salvador caused many deaths and disappearances (including children) all across the country and the economic and social instability after the war forced many people to emigration. For this reason, different organizations have collected DNA samples from relatives with the aim of identifying missing people. Thus, we present a dataset containing 334 complete mitogenomes from the Salvadoran general population. To the best of our knowledge, this is the first publication of a nationwide forensic-quality complete mitogenome database of any Latin American country. We found 293 different haplotypes, with a random match probability of 0.0041 and 26.6 mean pairwise differences, which is similar to other Latin American populations, and which represent a marked improvement from the values obtained with just control region sequences. These haplotypes belong to 54 different haplogroups, being 91% of them of Native American origin. Over a third (35.9%) of the individuals carried at least a heteroplasmic site (excluding length heteroplasmies). Ultimately, the present database aims to represent mtDNA haplotype diversity in the general Salvadoran populations as a basis for the identification of people that disappeared during or after the civil war.

Genomic Insights into the Population History of the Resande or Swedish Travelers.

The Resande are a minority ethnic group in Sweden, who were characterized by an itinerant way of life, and they have been suggested to originate from the mixture between Swedish and Romani populations. Because the population history of the Resande has been scarcely studied, we analyzed genome-wide genotype array data from unrelated Resande individuals in order to shed light on their origins and demographic history for the first time from a genetic perspective. Our results confirm the Romani-related ancestry of this population and suggest an admixture event between a Romani-like population and a general Swedish-like population that occurred approximately between the mid-18th and mid-19th centuries, two centuries after the arrival of the first historically reported Romani families in Sweden. This inferred date suggests that the Romani group involved in the admixture is related to the pre-18th-century arrivals of Romani in Scandinavia. In addition, a reduction in the population size is detected previous to the admixture event, suggesting a subtle signal of isolation. The present work constitutes a step forward toward a better representation of ethnic minorities and underrepresented groups in population genetic analyses. In order to know in more detail the complete history of human populations, it is time to focus on studying populations that have not been previously considered for a general scenario and that can provide valuable information to fill in the gaps that still remain uncovered.

Founder lineages in the Iberian Roma mitogenomes recapitulate the Roma diaspora and show the effects of demographic bottlenecks.

The Roma are the largest ethnic minority in Europe. With a Northwestern Indian origin around ~ 1.5 kya, they travelled throughout West Asia until their arrival in Europe around the eleventh century CE. Their diaspora through Europe is characterized by population bottlenecks and founder events which have contributed to their present day genetic and cultural diversity. In our study, we focus on the effects of founder effects in the mitochondrial DNA (mtDNA) pool of Iberian Roma by producing and analyzing 144 novel whole mtDNA sequences of Iberian Roma. Over 60% of their mtDNA pool is composed by founder lineages of South Asian origin or acquired by gene flow during their diaspora in the Middle East or locally in Europe in Europe. The TMRCA of these lineages predates the historical record of the Roma arrival in Spain. The abundance of founder lineages is in contrast with ~ 0.7% of autochthonous founder lineages present in the non-Roma Iberian population. Within those founder lineages, we found a substantial amount of South Asian M5a1b1a1 haplotypes and high frequencies of West Eurasian founder lineages (U3b1c, J2b1c, J1c1b, J1b3a, H88, among others), which we characterized phylogenetically and put in phylogeographical context. Besides, we found no evidence of genetic substructure of Roma within the Iberian Peninsula. These results show the magnitude of founder effects in the Iberian Roma and further explain the Roma history and genetic diversity from a matrilineal point of view.

Population Genetics of the European Roma-A Review.

The Roma are a group of populations with a common origin that share the Romani identity and cultural heritage. Their genetic history has been inferred through multiple studies based on uniparental and autosomal markers, and current genomic data have provided novel insights into their genetic background. This review was prompted by two factors: (i) new developments to estimate the genetic structure of the Roma at a fine-scale resolution have precisely identified the ancestral components and traced migrations that were previously documented only in historical sources, clarifying and solving debates on the origins and the diaspora of the Roma; (ii) while there has been an effort to review the health determinants of the Roma, the increasing literature on their population genetics has not been subjected to a dedicated review in the last two decades. We believe that a summary on the state of the art will benefit both the public and scholars that are approaching the subject.

Sequence diversity of the uniparentally transmitted portions of the genome in the resident population of Catalonia.

Genomic reference databases of residing populations are available in different countries and regions. Since they represent the whole genetic diversity of a geographical region, they have wide applications, from biomedical studies to forensic identifications. Uniparentally transmitted portions of the genome specifically are highly suitable for kinship analyses, mixed DNA cases and geographical ancestry inferences. We have sampled 808 individuals currently residing in Catalonia within the GCAT cohort, from which we have generated 808 high-quality whole mitochondrial DNA (mtDNA) genomes and 399 sequences of the male-specific part of the Y chromosome (MSY). We observe higher genetic diversity than in classical population genetics datasets. We test the robustness of whole sequences for unequivocal identifications, and we found that they have higher resolution than mitochondrial control region and Y chromosome short tandem repeats (Y-STRs), and that most of the variants they present are at low frequencies, increasing the discrimination capacity between individuals. These results confirm the forensic applicability of whole uniparental sequences and provide one of the largest high-quality reference datasets ever published.

The genetic scenario of Mercheros: an under-represented group within the Iberian Peninsula.

BACKGROUND: The general picture of human genetic variation has been vastly depicted in the last years, yet many populations remain broadly understudied. In this work, we analyze for the first time the Merchero population, a Spanish minority ethnic group that has been scarcely studied and historically persecuted. Mercheros have been roughly characterised by an itinerant history, common traditional occupations, and the usage of their own language. RESULTS: Here, we examine the demographic history and genetic scenario of Mercheros, by using genome-wide array data, whole mitochondrial sequences, and Y chromosome STR markers from 25 individuals. These samples have been complemented with a wide-range of present-day populations from Western Eurasia and North Africa. Our results show that the genetic diversity of Mercheros is explained within the context of the Iberian Peninsula, evidencing a modest signal of Roma admixture. In addition, Mercheros present low genetic isolation and intrapopulation heterogeneity. CONCLUSIONS: This study represents the first genetic characterisation of the Merchero population, depicting their fine-scale ancestry components and genetic scenario within the Iberian Peninsula. Since ethnicity is not only influenced by genetic ancestry but also cultural factors, other studies from multiple disciplines are needed to further explore the Merchero population. As with Mercheros, there is a considerable gap of underrepresented populations and ethnic groups in publicly available genetic data. Thus, we encourage the consideration of more ethnically diverse population panels in human genetic studies, as an attempt to improve the representation of human populations and better reconstruct their fine-scale history.