Clotilde Coudray

The mtDNA Legacy of the Levantine Early Upper Palaeolithic in Africa

Sequencing of 81 entire human mitochondrial DNAs (mtDNAs) belonging to haplogroups M1 and U6 reveals that these predominantly North African clades arose in southwestern Asia and moved together to Africa about 40,000 to 45,000 years ago. Their arrival temporally overlaps with the event(s) that led to the peopling of Europe by modern humans and was most likely the result of the same change in climate conditions that allowed humans to enter the Levant, opening the way to the colonization of both Europe and North Africa. Thus, the early Upper Palaeolithic population(s) carrying M1 and U6 did not return to Africa along the southern coastal route of the “out of Africa” exit, but from the Mediterranean area; and the North African Dabban and European Aurignacian industries derived from a common Levantine source.

The Complex and Diversified Mitochondrial Gene Pool of Berber Populations

The mitochondrial DNA variation of 295 Berber‐speakers from Morocco (Asni, Bouhria and Figuig) and the Egyptian oasis of Siwa was evaluated by sequencing a portion of the control region (including HVS‐I and part of HVS‐II) and surveying haplogroup‐specific coding region markers. Our findings show that the Berber mitochondrial pool is characterized by an overall high frequency of Western Eurasian haplogroups, a somehow lower frequency of sub‐Saharan L lineages, and a significant (but differential) presence of North African haplogroups U6 and M1, thus occupying an intermediate position between European and sub‐Saharan populations in PCA analysis. A clear and significant genetic differentiation between the Berbers from Maghreb and Egyptian Berbers was also observed. The first are related to European populations as shown by haplogroup H1 and V frequencies, whereas the latter share more affinities with East African and Nile Valley populations as indicated by the high frequency of M1 and the presence of L0a1, L3i, L4*, and L4b2 lineages. Moreover, haplogroup U6 was not observed in Siwa. We conclude that the origins and maternal diversity of Berber populations are old and complex, and these communities bear genetic characteristics resulting from various events of gene flow with surrounding and migrating populations.

PopAffiliator: online calculator for individual affiliation to a major population group based on 17 autosomal short tandem repeat genotype profile

Because of their sensitivity and high level of discrimination, short tandem repeat (STR) maker systems are currently the method of choice in routine forensic casework and data banking, usually in multiplexes up to 15–17 loci. Constraints related to sample amount and quality, frequently encountered in forensic casework, will not allow to change this picture in the near future, notwithstanding the technological developments. In this study, we present a free online calculator named PopAffiliator (http://cracs.fc.up.pt/popaffiliator) for individual population affiliation in the three main population groups, Eurasian, East Asian and sub-Saharan African, based on genotype profiles for the common set of STRs used in forensics. This calculator performs affiliation based on a model constructed using machine learning techniques. The model was constructed using a data set of approximately fifteen thousand individuals collected for this work. The accuracy of individual population affiliation is approximately 86%, showing that the common set of STRs routinely used in forensics provide a considerable amount of information for population assignment, in addition to being excellent for individual identification.

Y-STR genetic diversity in Moroccans from the Figuig oasis

Seventeen Y-chromosomal short tandem repeats (STRs) (DYS392, DYS437, DYS448, GATAH4.1, DYS389II, DYS439, DYS635, DYS393, DYS438, DYS391, DYS389I, DYS390, DYS19, DYS458, DYS456 and DYS385a,b) were typed in DNA samples from 96 unrelated Moroccan men from the Figuig oasis. Fifty-two haplotypes were identified, of which 36 were unique. The overall haplotype diversity was 0.966, and the discrimination capacity was 0.542. Population comparisons with previously published data revealed significant genetic heterogeneity between the Figuig Moroccans and other North African populations. Results also showed that the minimal haplotype 11-30-13-10-13-25-15 (DYS392-DYS389II-DYS393-DYS391-DYS389I-DYS390-DYS19) was the most frequent haplotype observed in Figuig men.