Heterogeneity in Palaeolithic Population Continuity and Neolithic Expansion in North Africa

Serra-Vidal, Gerard; Lucas-Sánchez, Marcel; Fadhlaoui-Zid, Κarima; Bekada, Asmahan; Zalloua, Pierre; Comas, David

doi:10.1016/j.cub.2019.09.050

Cited by 28 publications

(52 citation statements)

References 47 publications

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“…In comparison with other studies on gene flow, our findings were in consonance with the results of earlier studies that reported the presence of sharp discontinuity and limited gene flow between Northwestern Africa and Iberian Peninsula employing high-resolution analysis of the human Y-chromosome [28][29]. Contrary, our results were in disagreement with the West-Eastern genetic cline reported on the differential admixture between Europe and North Africa neighboring population[30]. Since all identified mutation among PCa Moroccan patients were of the point-nonsense (stop codon) mutation type, the presupposition is that the change in the resultant proteins was due to the termination of translation earlier than anticipated.…”

supporting

confidence: 84%

Presence of G84E Allelic Heterogeneity of the European Prostate Cancer SNP Mutation of HOX13B-G84E Associated with the European R-Haplogroup of Y-Chromosome and Absence of Gene Flow into Moroccans Patients

Mahasneh¹,

Ennaji²,

Abumsimir³

et al. 2021

JBM

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SNP mutations in the HOXB13 gene associated with prostate cancer were determined in Moroccans prostate cancer patients (PCa). All PCa SNP mutations were new and belong to the SNP point-mutations located on the stop codon of HOXB13 exon 1 and 2 located in chromosome 17. The five mutations and their frequencies were as follows: rs1197613952 (12%), rs1597934612 (4%), rs1597933874 (4%), rs1597933837 (4%) and rs867793282 (4%). The European HOXB13-G84E (rs138213197) PCa mutation was not detected among Moroccan patients. The Y-chromosome genealogical haplotypes of the Western European (R1b1b2-M2G9) and the Eastern European (R191a-M-17) were not observed in Moroccans PCa patients. The patients have their own haplotypes E1b1 and J with a frequency of 55 and 35%, respectively. The results of the SNP mutations in the HOXB13, the absence of the HOXB13-G84E of the European in the Moroccans PCa patients, the absence of the European-lineage haplogroups (R1a1a-M17 and R1b1b2-M269) and the presence of E1b1b and J in Moroccans PCa patients would clearly indicate the absence of gene flow from European to Moroccans gene pool.

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supporting

confidence: 84%

Presence of G84E Allelic Heterogeneity of the European Prostate Cancer SNP Mutation of HOX13B-G84E Associated with the European R-Haplogroup of Y-Chromosome and Absence of Gene Flow into Moroccans Patients

Mahasneh¹,

Ennaji²,

Abumsimir³

et al. 2021

JBM

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“…Tamezret and Matmata were found to be genomically the closest, which suggests that their linguistic diversity has not been an effective and/or prolonged enough barrier to obscure their common ancestry. Zraoua showed substantial genetic affinities with Matmata and Tamezret, despite its moderate signals of genetic isolation (for RoHs and intra‐population haplotype sharing, see Figures S4 and S5), a condition already observed for the Chenini Berbers (Arauna et al, 2017; Henn et al, 2012; Serra‐Vidal et al, 2019). Sened was found to be the most diverse, which may be due to its geographical distance from the other three Berber villages (average linear distance 122 km) which is greater than that between the latter (≤21 km) and the presence of a large seasonal salt lake (Chott el Jerid) along the path among villages that might have limited the contacts between the southern and Northern Berber communities.…”

Section: Discussionmentioning

confidence: 78%

“…Widening our comparisons to Berbers from North Africa, our patterns are different from those unraveled in previous studies. A recent whole‐genome sequencing investigation, carried out among Arabophone and Berberophone populations from Tunisia, found a slight differentiation between the two groups which can be attributed to a combination of more ancient admixture processes than the Arab invasion, namely the Neolithic expansion in North Africa, and genetic isolation (Serra‐Vidal et al, 2019). Furthermore, a genomic analysis of Arab and Berber speaking groups from Algeria and Morocco detected no significant distinction between the two populations but a substantial differentiation was found between Berbers (Arauna et al, 2017).…”

Section: Discussionmentioning

confidence: 99%

“…Furthermore, genomic approaches, which can define the relationships among individuals and groups more comprehensively, have been limited to Berbers (Arauna et al, 2017; Henn et al, 2012). A recent study tackled this issue analyzing complete genomes of Berber and Arab speaking populations across Northern Africa, including Tunisia (Serra‐Vidal et al, 2019). In these studies, however, the southern part of the country, which is of particular interest due to its history and ethnological diversity, was not adequately investigated.…”

Section: Introductionmentioning

confidence: 99%

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Berbers and Arabs: Tracing the genetic diversity and history of Southern Tunisia through genome wide analysis

Anagnostou

Dominici

Battaggia

et al. 2020

American J Phys Anthropol

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Objectives: Tunisia has been a crossroads for people from Africa, Europe, and the Middle East since prehistoric times. At present, it is inhabited by two main ethnic groups, Arabs and Berbers, and several minorities. This study aims to advance knowledge regarding their genetic structure using new population samplings and a genome-wide approach. Materials and Methods: We investigated genomic variation, estimated ancestry components and dated admixture events in three Berber and two Arab populations from Southern Tunisia, mining a dataset including Middle Eastern, sub-Saharan, and European populations. Results: Differences in the proportion of North African, Arabian, and European ancestries and the varying impact of admixture and isolation determined significant heterogeneity in the genetic structure of Southern Tunisian populations. Admixture time estimates show a multilayer pattern of admixture events, involving both ethnolinguistic groups, which started around the mid XI century and lasted for nearly five centuries. Discussion: Our study provides evidence that the relationships between genetic and cultural diversity of old and new inhabitants of North Africa in southern Tunisia follow different patterns. The Berbers seem to have preserved a significant part of their common genomic heritage despite Islamization, Arab cultural influence, and linguistic diversity. Compared to Morocco and Algeria, southern Tunisian Arabs have retained a higher level of Arabian ancestry. This is more evident in the semi-nomad R'Baya, who have kept their original Bedouin lifestyle, than in the population from Douz, who have undergone multiple events of stratification and admixture.

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“…They and others hypothesize that most non-African ancestry, i.e., the Eurasian/ European and Middle Eastern components in the populations from North Africa and the Horn of Africa is resulting from prehistoric back-to-Africa migration 19,40 . Recently, Serra-Vidal et al 41 describe North Africa as a melting pot of genetic components, attributing most genetic variation in the region also to prehistoric times. Here, we confirm previously identified genetic components, yet using 2.5 times as many individuals, and using WGS data for the majority of them.…”

Section: Resultsmentioning

confidence: 99%

An integrated personal and population-based Egyptian genome reference

Wohlers¹,

Künstner²,

Munz³

et al. 2020

Nat Commun

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A small number of de novo assembled human genomes have been reported to date, and few have been complemented with population-based genetic variation, which is particularly important for North Africa, a region underrepresented in current genome-wide references. Here, we combine long- and short-read whole-genome sequencing data with recent assembly approaches into a de novo assembly of an Egyptian genome. The assembly demonstrates well-balanced quality metrics and is complemented with variant phasing via linked reads into haploblocks, which we associate with gene expression changes in blood. To construct an Egyptian genome reference, we identify genome-wide genetic variation within a cohort of 110 Egyptian individuals. We show that differences in allele frequencies and linkage disequilibrium between Egyptians and Europeans may compromise the transferability of European ancestry-based genetic disease risk and polygenic scores, substantiating the need for multi-ethnic genome references. Thus, the Egyptian genome reference will be a valuable resource for precision medicine.

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Heterogeneity in Palaeolithic Population Continuity and Neolithic Expansion in North Africa

Cited by 28 publications

References 47 publications

Presence of G84E Allelic Heterogeneity of the European Prostate Cancer SNP Mutation of HOX13B-G84E Associated with the European R-Haplogroup of Y-Chromosome and Absence of Gene Flow into Moroccans Patients

Presence of G84E Allelic Heterogeneity of the European Prostate Cancer SNP Mutation of HOX13B-G84E Associated with the European R-Haplogroup of Y-Chromosome and Absence of Gene Flow into Moroccans Patients

Berbers and Arabs: Tracing the genetic diversity and history of Southern Tunisia through genome wide analysis

An integrated personal and population-based Egyptian genome reference

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