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1.
Hum Genet ; 142(2): 305-320, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36441222

RESUMEN

The Sahara Desert has acted as a barrier to human gene-flow between the northern and central parts of Africa since its aridification. Nonetheless, some contacts between both sides of the desert have occurred throughout history, mainly driven by commercial activity. Part of this was the infamous trans-Saharan slave trade, which forcedly brought peoples from south of the Sahara to North Africa from Roman times until the nineteenth century. Although historical records exist, the genetic aspects of these trans-Saharan migrations have not been deeply studied. In the present study, we assess the genetic influence of trans-Saharan migrations in current-day North Africa and characterize its amount, geographical origin, and dates. We confirm the heterogeneous and generally low-frequency presence of genomic segments of sub-Saharan origin in present-day North Africans acquired in recent historical times, and we show evidence of at least two admixture events: one dated around the thirteenth-fourteenth centuries CE between North Africans and a Western-sub-Saharan-like source similar to current-day Senegambian populations, and another one dated around the seventeenth century CE involving Tunisians and an Eastern-sub-Saharan-like source related to current-day south-Sudan and Kenyan populations. Time and location coincide with the peak of trans-Saharan slave-trade activity between Western African empires and North African powers, and are also concordant with the possibility of continuous recent south-to-north gene-flow. These findings confirm the trans-Saharan human genetic contacts, providing new and precise evidence about its possible dates and geographical origins, which are pivotal to understanding the genomic composition of an underrepresented region such as North Africa.


Asunto(s)
Genética de Población , Pueblo Norteafricano , Humanos , Kenia , África del Norte , Genómica , Variación Genética
2.
Ann Hum Biol ; 49(7-8): 342-347, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36255378

RESUMEN

BACKGROUND: Tunisia has a complex demographic history of migrations from within Africa, Europe, and the Middle East. However, only one population study based on X-STR markers has been reported so far. AIM: To investigate the genetic polymorphisms of 17 X-STRs in two Tunisian populations from the cities of Sousse and Makthar, and to reveal the genetic relationships with other reference populations. SUBJECTS AND METHODS: A total of 194 unrelated healthy individuals were analysed for 17 X-STR markers. RESULTS: Our results indicate that DXS6809 is the most polymorphic locus, whereas DXS6807 is the least informative marker in the populations of Sousse and Makthar. In addition, forensic statistical parameters, such as the power of discrimination in males and females, as well as the mean of exclusion in duos and trios, reveal that the panel of 17 X-STRs is highly informative and useful in different forensic applications. Overall, pairwise genetic distances (Fst) and non-metric MDS plots demonstrate clustering of different populations according to their geographic locations and their historical relationships. CONCLUSION: Overall, the study of X-STR markers of the Tunisian populations can help to promote the establishment of a forensic DNA reference database in Tunisia and provide reference for future anthropological research.


Asunto(s)
Repeticiones de Microsatélite , Polimorfismo Genético , Femenino , Humanos , Masculino , Etnicidad/genética , Frecuencia de los Genes , Genética de Población , Repeticiones de Microsatélite/genética , Túnez , Sitios Genéticos
3.
J Fish Biol ; 100(2): 594-600, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-34837218

RESUMEN

Reports of morphological differences between European anchovy (Engraulis cf. encrasicolus) from coastal and marine habitats have long existed in the ichthyologic literature and have given rise to a long-standing debate on their taxonomic status. More recently, molecular studies have confirmed the existence of genetic differentiation between the two anchovy ecotypes. Using ancestry-informative markers, we show that coastal anchovies throughout the Mediterranean share a common ancestry and that substantial genetic differentiation persists in different pairs of coastal/marine populations despite the presence of limited gene flow. On the basis of genetic and ecological arguments, we propose that coastal anchovies deserve a species status of their own (E. maeoticus) and argue that a unified taxonomical framework is critical for future research and management.


Asunto(s)
Peces , Alimentos Marinos , Animales , Ecosistema , Peces/genética , Flujo Génico , Flujo Genético
4.
Ann Hum Biol ; 48(7-8): 590-597, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-35067134

RESUMEN

BACKGROUND: Due to its strategic location, Tunisia witnessed the succession and influence of many civilisations throughout history. However, the majority of studies carried out on Tunisia are focussed on Barbarian ethnicity. AIM: To estimate genetic diversity and genetic structure of three Tunisian populations using autosomal STRs. SUBJECTS AND METHODS: 278 individuals were analysed for sixteen STRs. Allele frequencies and statistical parameters were determined. RESULTS: The studied populations showed genetic affinity with geographically close populations. AMOVA showed no genetic difference between the Tunisian populations. Nevertheless, the variance between the populations of the same group was significant, reflecting their heterogeneity even though they came from the same geographical area, and had the same ethnicity and complex demographic history. CONCLUSION: Our results strongly supported the application of autosomal genetic markers in anthropological and forensic studies. The analyses conducted at the 15-loci level provide the resolution to assess the phylogenetic relationships among the populations examined and other geographically targeted worldwide populations, while the results resulting from the 10-loci studies provide an understanding of the relationships and origins of the North African populations. Furthermore, the current report demonstrates that the battery of autosomal STRs reported are useful, providing the power of discrimination for forensic and paternity analyses.


Asunto(s)
Genética de Población , Repeticiones de Microsatélite , Frecuencia de los Genes , Marcadores Genéticos , Variación Genética , Humanos , Repeticiones de Microsatélite/genética , Filogenia
5.
Int J Legal Med ; 133(1): 85-88, 2019 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-29569161

RESUMEN

In the present study, the genetic variations of 17 X-STR markers (DXS8378, DXS9898, DXS7133, GATA31E08, GATA172D05, DXS6801, DXS7423, DXS6809, DXS6799, DXS7132, DXS9902, DXS6800, DXS6789, DXS10075, DXS10079, DXS6807, and DXS6803) were analyzed in 139 unrelated individuals in Nabeul, aiming to perform an X-STR database for anthropological and forensic purposes. Our results indicate that DXS6809 was the most polymorphic locus, whereas DXS6807 was the least informative marker. In addition, the obtained values for the statistical parameters of forensic interest, i.e., the power of discrimination in males (PDM) and females (PDF), as well as the mean exclusion chance in duos (MECD) and trios (MECT) have demonstrated that this panel of 17 X-STRs is highly informative and useful for forensic application and anthropological research. Additionally, pairwise genetic distances based on FST were calculated between Nabeul population and other populations extracted from the literature. Genetic distances were represented in a non-metric MDS plot and clustering of populations according to their geographic locations and their historical relationship was detected.


Asunto(s)
Cromosomas Humanos X , Variación Genética , Genética de Población , Repeticiones de Microsatélite , Dermatoglifia del ADN , Femenino , Frecuencia de los Genes , Marcadores Genéticos , Genotipo , Haplotipos , Humanos , Masculino , Reacción en Cadena de la Polimerasa , Túnez
6.
Int J Legal Med ; 133(6): 1659-1666, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-30847558

RESUMEN

This study describes autosomal STR profiles of the populations of South and North Afghanistan. A total of 188 unrelated individuals residing north (n = 42) and south (n = 146) of the Hindu Kush Range within the territory of Afghanistan were examined against the background of 54 geographically targeted reference populations from Eurasia and North East Africa. The main objective of this study was to investigate longitudinal gene flow across the Hindu Kush Range and Eurasia. Genetic differentiation tests between North and South Afghanistan generated insignificant genetic differences for all loci. Multidimensional scaling (MDS) plots based on Fst distances and Neighbor-Joining (N-J) analysis indicated genetic affinities between the Afghani groups and Indian/Near East/West Asian populations. Admixture and Structure analyses demonstrate a gradient of genetic continuity within a major east to west cline that includes North and South Afghanistan as intermediate populations. Overall, although Afghanistan is surrounded by a number of natural barriers, instead of an isolated territory, it has been a genetically porous region providing a migrational nexus to the rest of Eurasia.


Asunto(s)
Dermatoglifia del ADN , Marcadores Genéticos , Genética de Población , Migración Humana , Filogenia , Afganistán , Etnicidad/genética , Frecuencia de los Genes , Variación Genética , Genotipo , Humanos , Repeticiones de Microsatélite , Filogeografía
7.
Immunol Invest ; 48(8): 875-892, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-31161824

RESUMEN

Background: Libya witnessed the succession of many civilizations and ethnic groups throughout history, thereby questioning the origin of present-day Libyans. Indeed, they were considered Africans given the geographical position of the country, Arabs at the cultural level, and Berbers because of the notable presence of Berber tribes. Genetic anthropology studies investigating the origin of Libyans were rarely reported, and thus little was known about the population structure of current Libyans, particularly at autosomic markers level. Methods: We examined HLA class II (DRB1, DQB1) gene profiles of 101 unrelated Libyans, and compared them with Arab-speaking communities and with Sub-Saharan and Mediterranean populations using Neighbour-Joining dendrograms, genetic distances, correspondence, and haplotype analysis. Results: Of the 42 DRB1 alleles identified, DRB1*07:01 (14.36%), DRB1*03:01 (12.38%) were the most frequent, while DQB1*02:01 (24.17%), DQB1*02:02 (13.86%), and DQB1*03:01 (12.38%) were the most frequent of the 17 DQB1 alleles detected. DRB1*03:01-DQB1*02:01 (6.93%), DRB1*07:01-DQB1*02:02 (4.45%), and DRB1*04:03-DQB1*03:02 (3.46%) were the most frequent DRB1-DQB1 haplotypes. Conclusion: Libyans appear to be closely related to North Africans, Saudis, and Iberians, but distinct from Levantine Arabs, East Mediterraneans, and Sub-Saharan Africans. This indicates limited genetic contribution of Levantine Arabs and Sub-Saharans on the makeup of Libyan gene pool. Our study confirmed genetic heterogeneity among Arab populations, with three identified groups. The first comprises North Africans, Saudis, and Kuwaitis who were related to Iberians and West Mediterraneans, while the second consists of Levantine Arabs who were close to East Mediterraneans, and the third contained Sudanese and Comorians, with a close relatedness to Sub-Saharans.


Asunto(s)
Variación Genética , Haplotipos/genética , Antígenos de Histocompatibilidad Clase II/genética , Polimorfismo Genético , Alelos , Frecuencia de los Genes , Genética de Población , Cadenas beta de HLA-DQ/genética , Cadenas HLA-DRB1/genética , Humanos , Libia , Desequilibrio de Ligamiento
8.
Mol Biol Evol ; 34(2): 318-329, 2017 02 01.
Artículo en Inglés | MEDLINE | ID: mdl-27744413

RESUMEN

North Africa is characterized by its diverse cultural and linguistic groups and its genetic heterogeneity. Genomic data has shown an amalgam of components mixed since pre-Holocean times. Though no differences have been found in uniparental and classical markers between Berbers and Arabs, the two main ethnic groups in the region, the scanty genomic data available have highlighted the singularity of Berbers. We characterize the genetic heterogeneity of North African groups, focusing on the putative differences of Berbers and Arabs, and estimate migration dates. We analyze genome-wide autosomal data in five Berber and six Arab groups, and compare them to Middle Easterns, sub-Saharans, and Europeans. Haplotype-based methods show a lack of correlation between geographical and genetic populations, and a high degree of genetic heterogeneity, without strong differences between Berbers and Arabs. Berbers enclose genetically diverse groups, from isolated endogamous groups with high autochthonous component frequencies, large homozygosity runs and low effective population sizes, to admixed groups with high frequencies of sub-Saharan and Middle Eastern components. Admixture time estimates show a complex pattern of recent historical migrations, with a peak around the 7th century C.E. coincident with the Arabization of the region; sub-Saharan migrations since the 1st century B.C. in agreement with Roman slave trade; and a strong migration in the 17th century C.E., coincident with a huge impact of the trans-Atlantic and trans-Saharan trade of sub-Saharan slaves in the Modern Era. The genetic complexity found should be taken into account when selecting reference groups in population genetics and biomedical studies.


Asunto(s)
Árabes/genética , Población Negra/genética , Pool de Genes , África del Norte , ADN Mitocondrial/genética , Frecuencia de los Genes , Variación Genética , Genética de Población , Haplotipos , Migración Humana , Humanos , Polimorfismo de Nucleótido Simple , Población Blanca/genética
9.
Ann Hum Biol ; 45(1): 98-104, 2018 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-29382280

RESUMEN

BACKGROUND: The genetic composition of human North African populations is an amalgam of different ancestral components coming from the Middle East, Europe, south-Saharan Africa and autochthonous to North Africa. This complex genetic pattern is the result of migrations and admixtures in the region since Palaeolithic times. AIMS: The objective of the present study is to refine knowledge of the population history of North African populations through the analysis of complete mitochondrial sequences. SUBJECTS AND METHODS: This study has sequenced complete mitochondrial DNAs (mtDNAs) in several North African and neighbouring individuals. RESULTS: The mtDNA haplogroup classification and phylogeny shows a high genetic diversity in the region as a result of continuous admixture. The phylogenetic analysis allowed us to identify a new haplogroup characterised by positions 10 101 C and 146 C (H1v2), a sub-branch of H1v, which is restricted to North Africa and whose origins are estimated as ∼4000 years ago. CONCLUSIONS: The analysis of the complete mtDNA genome has allowed for the identification of a North African sub-lineage that might be ignored by the analysis of partial mtDNA control region sequences, highlighting the phylogeographic relevance of mtDNA complete sequence analysis.


Asunto(s)
ADN Mitocondrial/genética , Variación Genética , Haplotipos , Filogenia , África del Norte , Humanos , Filogeografía , Secuenciación Completa del Genoma
10.
J Hum Genet ; 60(1): 41-9, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-25471516

RESUMEN

The male genetic landscape of the territory currently known as Tunisia is hampered by the scarcity of data, especially from cosmopolitan areas such as the coastal city of Sousse. In order to alleviate this lacuna, 220 males from Sousse were examined, for the first time, for more than 50 Y-chromosome single-nucleotide polymorphisms (Y-SNPs) markers and compared with 3099 individuals from key geographically targeted locations in North Africa, Europe and the Near East. The paternal lineages observed belong to a common set of Y haplogroups previously described in North Africa. In addition to the prominent autochthonous North African E-M81 haplogroup which is exclusively represented by its subclade E-M183 (44.55% of Y-chromosomes), a number of Near Eastern Neolithic lineages including E-M78, J-M267 and J-M172 account for 39% of the Y-chromosomes detected. Principal component analysis based on haplogroup frequencies, multidimensional scaling based on Rst genetic distances and analyses of molecular variance using both Y-chromosome short tandem repeat haplotypes and Y-SNP haplogroup data revealed that the Tunisian and North African groups, as a whole, are intra- and inter-specific diverse with Sousse being highly heterogeneous.


Asunto(s)
Cromosomas Humanos Y/genética , Heterogeneidad Genética , Polimorfismo de Nucleótido Simple , África del Norte , Europa (Continente) , Genética de Población , Haplotipos , Humanos , Masculino , Repeticiones de Microsatélite , Medio Oriente , Filogenia , Túnez
11.
PLoS Genet ; 8(1): e1002397, 2012 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-22253600

RESUMEN

North African populations are distinct from sub-Saharan Africans based on cultural, linguistic, and phenotypic attributes; however, the time and the extent of genetic divergence between populations north and south of the Sahara remain poorly understood. Here, we interrogate the multilayered history of North Africa by characterizing the effect of hypothesized migrations from the Near East, Europe, and sub-Saharan Africa on current genetic diversity. We present dense, genome-wide SNP genotyping array data (730,000 sites) from seven North African populations, spanning from Egypt to Morocco, and one Spanish population. We identify a gradient of likely autochthonous Maghrebi ancestry that increases from east to west across northern Africa; this ancestry is likely derived from "back-to-Africa" gene flow more than 12,000 years ago (ya), prior to the Holocene. The indigenous North African ancestry is more frequent in populations with historical Berber ethnicity. In most North African populations we also see substantial shared ancestry with the Near East, and to a lesser extent sub-Saharan Africa and Europe. To estimate the time of migration from sub-Saharan populations into North Africa, we implement a maximum likelihood dating method based on the distribution of migrant tracts. In order to first identify migrant tracts, we assign local ancestry to haplotypes using a novel, principal component-based analysis of three ancestral populations. We estimate that a migration of western African origin into Morocco began about 40 generations ago (approximately 1,200 ya); a migration of individuals with Nilotic ancestry into Egypt occurred about 25 generations ago (approximately 750 ya). Our genomic data reveal an extraordinarily complex history of migrations, involving at least five ancestral populations, into North Africa.


Asunto(s)
Población Negra/genética , Flujo Génico/genética , Variación Genética , Dinámica Poblacional , Población , África del Sur del Sahara/etnología , África del Norte , Población Negra/historia , ADN Mitocondrial/genética , Antiguo Egipto , Emigración e Inmigración , Europa (Continente) , Pool de Genes , Genómica , Genotipo , Haplotipos , Historia Antigua , Humanos , Medio Oriente , Marruecos , Polimorfismo de Nucleótido Simple , Población Blanca/genética , Población Blanca/historia
12.
Electrophoresis ; 33(23): 3555-63, 2012 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-23160959

RESUMEN

In the present study, 17 Y-chromosomal STR (Y-STR) loci were typed in 218 unrelated males from Sousse, Central-East Tunisia, to evaluate forensic and population genetic applications of the data. A total of 154 different haplotypes were identified, 127 (82.5%) of which were unique, with the most frequent haplotype occurring in 14 individuals (6.4%). The locus diversity ranged from 0.2050 at DYS392 to 0.8760 at DYS385. The haplotype diversity at the 17-loci resolution was calculated to be 0.9916, while the corresponding values for the extended (11 loci) and minimal (9 loci) haplotypes were estimated at 0.9735 and 0.9710, respectively. Comparison with 29 regional and global populations using correspondence analysis, neighbor joining (NJ) tree, and Rst genetic distance revealed that the Sousse population is highly diverse. This finding is consistent with historical data. Furthermore, the results of this study indicate a distinct genetic substructure among Tunisian populations. In conclusion, the present study demonstrated that the 17 Y-STRs analyzed are highly informative for individual identification, parentage analysis, and population genetic studies.


Asunto(s)
Cromosomas Humanos Y , Repeticiones de Microsatélite , Análisis por Conglomerados , Frecuencia de los Genes , Variación Genética , Haplotipos , Humanos , Masculino , Filogenia , Túnez
13.
Ann Hum Biol ; 39(1): 80-3, 2012 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-22039975

RESUMEN

BACKGROUND: Until recently Libya remained the only state of the Maghreb without genetic evolution investigations of the genetic landscape of its population. Apart from some studies of Libyan Jews and Libyan Tuareg, only two recent investigations, based on autosomal ancestry informative SNP and mitochondrial DNA markers, have concerned the general Libyan population. AIM: The present work is the first to describe STR markers polymorphism in the general Libyan population in order to contribute to the analysis of its genetic diversity for forensic purposes. SUBJECTS AND METHODS: Allele frequencies for 15 STR loci (CSF1PO, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11, FGA, TH01, TPOX, VWA, D2S1338, D19S433) included in the AmpFlSTR Identifiler kit were determined in a sample of 99 unrelated individuals originating from the general Libyan population. RESULTS: No deviations from Hardy-Weinberg equilibrium were observed, with the exception of CSF1PO. Genetic parameters of forensic interest such as combined power of discrimination (PD) and combined probability of exclusion (PE) showed values higher than 0.999. Comparisons with data from other North African populations showed significant differences between Libyans and Tunisians, Moroccans and Egyptians. CONCLUSIONS: The high informativity observed for these 15 STRs in a Libyan population demonstrates their usefulness for forensic and parental purposes.


Asunto(s)
Cromosomas Humanos/genética , Frecuencia de los Genes/genética , Genética de Población , Secuencias Repetidas en Tándem/genética , Genética Forense , Sitios Genéticos/genética , Marcadores Genéticos , Variación Genética , Humanos , Libia
14.
Am J Phys Anthropol ; 145(1): 107-17, 2011 May.
Artículo en Inglés | MEDLINE | ID: mdl-21312180

RESUMEN

Human population movements in North Africa have been mostly restricted to an east-west direction due to the geographical barriers imposed by the Sahara Desert and the Mediterranean Sea. Although these barriers have not completely impeded human migrations, genetic studies have shown that an east-west genetic gradient exists. However, the lack of genetic information of certain geographical areas and the focus of some studies in parts of the North African landscape have limited the global view of the genetic pool of North African populations. To provide a global view of the North African genetic landscape and population structure, we have analyzed ∼2,300 North African mitochondrial DNA lineages (including 269 new sequences from Libya, in the first mtDNA study of the general Libyan population). Our results show a clinal distribution of certain haplogroups, some of them more frequent in Western (H, HV0, L1b, L3b, U6) or Eastern populations (L0a, R0a, N1b, I, J) that might be the result of human migrations from the Middle East, sub-Saharan Africa, and Europe. Despite this clinal pattern, a genetic discontinuity is found in the Libyan/Egyptian border, suggesting a differential gene flow in the Nile River Valley. Finally, frequency of the post-LGM subclades H1 and H3 is predominant in Libya within the H sequences, highlighting the magnitude of the LGM expansion in North Africa.


Asunto(s)
ADN Mitocondrial/genética , Variación Genética , Genética de Población , Filogeografía , África del Norte , Análisis de Varianza , Marcadores Genéticos , Haplotipos , Humanos , Filogenia , Polimorfismo de Nucleótido Simple
15.
Am J Phys Anthropol ; 146(2): 271-80, 2011 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-21915847

RESUMEN

Tunisia has experienced a variety of human migrations that have modeled the myriad cultural groups inhabiting the area. Both Arabic and Berber-speaking populations live in Tunisia. Berbers are commonly considered as in situ descendants of peoples who settled roughly in Palaeolithic times, and posterior demographic events such as the arrival of the Neolithic, the Arab migrations, and the expulsion of the "Moors" from Spain, had a strong cultural influence. Nonetheless, the genetic structure and the population relationships of the ethnic groups living in Tunisia have been poorly assessed. In order to gain insight into the paternal genetic landscape and population structure, more than 40 Y-chromosome single nucleotide polymorphisms and 17 short tandem repeats were analyzed in five Tunisian ethnic groups (three Berber-speaking isolates, one Andalusian, and one Cosmopolitan Arab). The most common lineage was the North African haplogroup E-M81 (71%), being fixed in two Berber samples (Chenini-Douiret and Jradou), suggesting isolation and genetic drift. Differential levels of paternal gene flow from the Near East were detected in the Tunisian samples (J-M267 lineage over 30%); however, no major sub-Saharan African or European influence was found. This result contrasts with the high amount of sub-Saharan and Eurasian maternal lineages previously described in Tunisia. Overall, our results reveal a certain genetic inter-population diversity, especially among Berber groups, and sexual asymmetry, paternal lineages being mostly of autochthonous origin. In addition, Andalusians, who are supposed to be migrants from southern Spain, do not exhibit any substantial contribution of European lineages, suggesting a North African origin for this ethnic group.


Asunto(s)
Población Negra/genética , Cromosomas Humanos Y , Etnicidad/genética , Filogeografía , Población Blanca/genética , Análisis de Varianza , Emigración e Inmigración , Marcadores Genéticos , Humanos , Masculino , Repeticiones de Microsatélite , Filogenia , Polimorfismo de Nucleótido Simple , Túnez
16.
Sci Rep ; 11(1): 21125, 2021 10 26.
Artículo en Inglés | MEDLINE | ID: mdl-34702931

RESUMEN

Human populations are genetically affected by their demographic history, which shapes the distribution of their functional genomic variation. However, the genetic impact of recent demography is debated. This issue has been studied in different populations, but never in North Africans, despite their relevant cultural and demographic diversity. In this study we address the question by analyzing new whole-exome sequences from two culturally different Tunisian populations, an isolated Amazigh population and a close non-isolated Arab-speaking population, focusing on the distribution of functional variation. Both populations present clear differences in their variant frequency distribution, in general and for putatively damaging variation. This suggests a relevant effect in the Amazigh population of genetic isolation, drift, and inbreeding, pointing to relaxed purifying selection. We also discover the enrichment in Imazighen of variation associated to specific diseases or phenotypic traits, but the scarce genetic and biomedical data in the region limits further interpretation. Our results show the genomic impact of recent demography and reveal a clear genetic differentiation probably related to culture. These findings highlight the importance of considering cultural and demographic heterogeneity within North Africa when defining population groups, and the need for more data to improve knowledge on the region's health and disease landscape.


Asunto(s)
Árabes/genética , Secuenciación del Exoma , Exoma , Femenino , Humanos , Masculino , Túnez/etnología
17.
Mol Genet Genomic Med ; 9(10): e1810, 2021 10.
Artículo en Inglés | MEDLINE | ID: mdl-34514748

RESUMEN

Autosomal recessive non-syndromic hearing loss (ARNSHL) is the most common inherited sensory impairment. It is particularly frequent in North African populations who have a high rate of consanguineous marriage. The c.242G>A homozygous variant in LRTOMT gene was previously established as pathogenic and is associated with NSHL in both humans and mice. The aim of this study is to determine the carrier frequency for the LRTOMT c.242G>A variant and also to estimate its age in addition to evaluating its diagnostic potential as a deafness biomarker among various populations and ethnicities in Northern African countries. A total of 179 Tunisian and 34 Libyan unrelated deafness patients were screened for this variant. The homozygous c.242G>A variant was found in 5.02% and 2.94% in Tunisian and Libyan families, respectively. Subsequent screening for this variant in 263 healthy controls of various ethnicities (136 Tunisian Berbers, 32 Andalusian and 95 Tunisian from undefined ethnic origin) revealed higher frequency for the heterozygous state among Tunisians of Berber origin only (19.11%). Genotyping 7 microsatellite markers nearby the variant location in ARNSHL patients who had the homozygous variant revealed the same haplotype suggesting a common founder origin for this variant. The age of this variant was estimated to be between 2025 and 3425 years (this corresponds to 3400 years when the variant rate was set at 10-3 or 2600 years when the variant rate is set at 10-2 ), spreading along with the Berber population who migrated to North Africa. In conclusion, the LRTOMT c.242G>A homozygous variant could be used as a useful deafness biomarker for North African ARNSHL patients meanwhile the heterozygous variant could be utilized in genealogical studies for tracing those of the Berber ethnic group.


Asunto(s)
Alelos , Sordera/diagnóstico , Sordera/genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Mutación , Proteínas/genética , África del Norte , Consanguinidad , Sordera/epidemiología , Pruebas Genéticas , Genética de Población , Genotipo , Humanos , Repeticiones de Microsatélite , Linaje
18.
Hum Biol ; 82(4): 367-84, 2010 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-21082907

RESUMEN

Our objective is to highlight the age of sub-Saharan gene flows in North Africa and particularly in Tunisia. Therefore we analyzed in a broad phylogeographic context sub-Saharan mtDNA haplogroups of Tunisian Berber populations considered representative of ancient settlement. More than 2,000 sequences were collected from the literature, and networks were constructed. The results show that the most ancient haplogroup is L3*, which would have been introduced to North Africa from eastern sub-Saharan populations around 20,000 years ago. Our results also point to a less ancient western sub-Saharan gene flow to Tunisia, including haplogroups L2a and L3b. This conclusion points to an ancient African gene flow to Tunisia before 20,000 BP. These findings parallel the more recent findings of both archaeology and linguistics on the prehistory of Africa. The present work suggests that sub-Saharan contributions to North Africa have experienced several complex population processes after the occupation of the region by anatomically modern humans. Our results reveal that Berber speakers have a foundational biogeographic root in Africa and that deep African lineages have continued to evolve in supra-Saharan Africa.


Asunto(s)
Población Negra/genética , ADN Mitocondrial/genética , Genética de Población , África del Sur del Sahara , Emigración e Inmigración , Haplotipos , Humanos , Túnez
19.
Curr Biol ; 29(22): 3953-3959.e4, 2019 11 18.
Artículo en Inglés | MEDLINE | ID: mdl-31679935

RESUMEN

North Africa is located at the crossroads of the Mediterranean Sea, the Middle East, and the Sahara Desert. Extensive migrations and gene flow in the region have shaped many different cultures and ancestral genetic components through time [1-6]. DNA data from ancient Moroccan sites [7, 8] has recently shed some light to the population continuity-versus-replacement debate, i.e., the question of whether current North African populations descend from Palaeolithic groups or, on the contrary, subsequent migrations swept away all pre-existing genetic signal in the region. In the present study, we analyze 21 complete North African genomes and compare them with extant and ancient genome data in order to address the demographic continuity-versus-replacement debate, to assess whether these demographic events were homogeneous (including Berber and Arabic-speaking groups), and to explore the effect of Neolithization and posterior migration waves. The North African genetic pool is defined as a melting pot of genetic components, including an endemic North African Epipalaeolithic component at low frequency that forms a declining gradient from Western to Eastern North Africa. This scenario is consistent with Neolithization having shaped most of the current genetic variation in the region when compared to posterior back-to-North-Africa migration waves such as the Arabization. A common and distinct genetic history of the region is shown, with internal different proportions of genetic components owing to differential admixture with surrounding groups as well as to genetic drift due to isolation and endogamy in certain populations.


Asunto(s)
Población Negra/genética , Flujo Génico/genética , África del Sur del Sahara , África del Norte , Fósiles , Pool de Genes , Variación Genética , Genética de Población/métodos , Genoma/genética , Haplotipos , Historia Antigua , Migración Humana/historia , Humanos , Polimorfismo de Nucleótido Simple , Población Blanca/genética
20.
Eur J Hum Genet ; 27(5): 801-810, 2019 May.
Artículo en Inglés | MEDLINE | ID: mdl-30683925

RESUMEN

In the present study, 87 unrelated individuals from the Marquesas Archipelago in French Polynesia were typed using mtDNA, Y-chromosome and autosomal (STRs) markers and compared to key target populations from Island South East Asia (ISEA), Taiwan, and West and East Polynesia to investigate their genetic relationships. The Marquesas, located at the eastern-most fringes of the Austronesian expansion, offer a unique opportunity to examine the effects of a protracted population expansion wave on population structure. We explore the contribution of Melanesian, Asian and European heritage to the Marquesan islands of Nuku-Hiva, Hiva-Oa and Tahuata. Overall, the Marquesas Islands are genetically homogeneous. In the Marquesan Archipelago all of the mtDNA haplogroups are of Austronesian origin belonging to the B4a1 subhaplogroup as the region marks the end of a west to east decreasing cline of Melanesian mtDNA starting with the West Polynesian population of Tonga. Genetic discrepancies are less pronounced between the Marquesan and Society islands, and among the Marquesan islands. Interestingly, a number of Melanesian, Polynesian and European Y-chromosome haplogroups exhibit very different distribution between the Marquesan islands of Nuku Hiva and Hiva Oa, likely resulting from drift, differential migration involving various source populations and/or unique trading routes.


Asunto(s)
Genética de Población , Alelos , Asia , Australia , Contaminación de ADN , Genotipo , Humanos , Polimorfismo de Nucleótido Simple/genética , Polinesia
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