Paternal lineages in <scp>L</scp>ibya inferred from Y‐chromosome haplogroups

Triki-Fendri, Soumaya; Sánchez-Diz, Paula; Rey-González, Danel; Ayadi, Imen; Carracedo, Ángel; Rebai, Ahmed

doi:10.1002/ajpa.22705

Cited by 14 publications

(7 citation statements)

References 62 publications

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“…Based on the 23 single‐copy Y‐STR loci, the average R ST between these five ethnic groups is very high (0.38, Table ), with an extreme R ST of 0.75 observed between Tarklanis and Utmankhels (Table ). The middle range R ST values (e.g., 0.1–0.2) found between some of the ethnic groups (Gujar–Kohistani, Tarklani–Kohistani, Yusafzai–Kohistani) are comparable to genetic distances reported previously between population groups from the Indo‐Pakistani subcontinent (Alam et al., ; Seema Nair et al., ; Perveen et al., ) and the Middle East (Triki‐Fendri et al., ). It is intriguing that Kohistanis represent the common denominator in these middle range values, for they likely represent the indigenous population of the region while the other sampled ethnic groups likely represent more recent immigrants (Barth, ); Tarklanis and Yusafzais occupying the low‐lying regions of southern Dir and Swat, and Gujars the rugged higher‐altitude Upper Swat.…”

Section: Discussionmentioning

confidence: 64%

High Y‐chromosomal Differentiation Among Ethnic Groups of Dir and Swat Districts, Pakistan

Ullah

Olofsson

Ilardo

et al. 2017

Annals of Human Genetics

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The ethnic groups that inhabit the mountainous Dir and Swat districts of northern Pakistan are marked by high levels of cultural and phenotypic diversity. To obtain knowledge of the extent of genetic diversity in this region, we investigated Y-chromosomal diversity in five population samples representing the three main ethnic groups residing within these districts, including Gujars, Pashtuns and Kohistanis. A total of 27 Y-chromosomal short tandem repeats (Y-STRs) and 331 Y-chromosomal single nucleotide polymorphisms (Y-SNPs) were investigated. In the Y-STRs, we observed very high and significant levels of genetic differentiation in nine of the 10 pairwise between-group comparisons (R 0.179-0.746), and the differences were mirrored in the Y-SNP haplogroup frequency distribution. No genetic differences were found between the two Pashtun subethnic groups Tarklanis and Yusafzais (R = 0.000). Utmankhels, also considered Pashtuns culturally, were not closely related to any of the other population samples (R 0.451-0.746). Thus, our findings provide examples of both associations and dissociations between cultural and genetic legacies. When analyzed within a larger continental-scale context, these five ethnic groups fall mostly outside the previously characterized Y-chromosomal gene pools of the Indo-Pakistani subcontinent. Male founder effects, coupled with culturally and topographically based constraints upon marriage and movement, are likely responsible for the high degree of genetic structure in this region.

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Section: Discussionmentioning

confidence: 64%

High Y‐chromosomal Differentiation Among Ethnic Groups of Dir and Swat Districts, Pakistan

Ullah

Olofsson

Ilardo

et al. 2017

Annals of Human Genetics

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“…As an observation that lends additional support to this hypothesis is that the frequency distribution of the G2019S mutation along the coastal regions of the Mediterranean Basin and in Europe is correlated strongly with that of the Y-chromosome E-M81 haplogroup, which would have appeared in North Africa during the Neolithic period about 14200 years ago (www.yfull.com/tree/E-M81). This haplogroup, referred to as a genetic Berber marker, reaches a mean frequency of 42% in North Africa, with a decreasing gradient ranging from 98.1% in the southern and Berber regions of Morocco to 11.7% in the north of Egypt [21,22,35]. In the Middle East, this Berber marker was reported in 1.3% of Lebanese [36], 5% among Sephardic Jews, and 3.7% of Turkish [37], but it was absent in Arab countries [23,38].…”

Section: Discussionmentioning

confidence: 99%

Evidence for prehistoric origins of the G2019S mutation in the North African Berber population

et al. 2017

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The most common cause of the monogenic form of Parkinson’s disease known so far is the G2019S mutation of the leucine-rich repeat kinase 2 (LRRK2) gene. Its frequency varies greatly among ethnic groups and geographic regions ranging from less than 0.1% in Asia to 40% in North Africa. This mutation has three distinct haplotypes; haplotype 1 being the oldest and most common. Recent studies have dated haplotype 1 of the G2019S mutation to about 4000 years ago, but it remains controversial whether the mutation has a Near-Eastern or Moroccan-Berber ancestral origin. To decipher this evolutionary history, we genotyped 10 microsatellite markers spanning a region of 11.27 Mb in a total of 57 unrelated Moroccan PD patients carrying the G2019S mutation for which the Berber or Arab origin was established over 3 generations based on spoken language. We estimated the age of the most recent common ancestor for the 36 Arab-speaking and the 15 Berber-speaking G2019S carriers using the likelihood-based method with a mutation rate of 10−4. Data analysis suggests that the shortest haplotype originated in a patient of Berber ethnicity. The common founder was estimated to have lived 159 generations ago (95% CI 116–224) for Arab patients, and 200 generations ago (95% CI 123–348) for Berber patients. Then, 29 native North African males carrying the mutation were assessed for specific uniparental markers by sequencing the Y-chromosome (E-M81, E-M78, and M-267) and mitochondrial DNA (mtDNA) hypervariable regions (HV1 and HV2) to examine paternal and maternal contributions, respectively. Results showed that the autochthonous genetic component reached 76% for mtDNA (Eurasian and north African haplogroups) and 59% for the Y-chromosome (E-M81 and E-M78), suggesting that the G2019S mutation may have arisen in an autochthonous DNA pool. Therefore, we conclude that LRRK2 G2019S mutation most likely originated in a Berber founder who lived at least 5000 years ago (95% CI 3075–8700).

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“…It appears at high/intermediate frequencies in populations from the Middle East and East Africa 27 , 28 , 47 – 52 being fairly rare in Europe, Asia and America 53 – 58 . Up to now in North Africa, T lineages were sporadically found in most populations, peaking, however, in the eastern ones such as Egyptian (6.7%) and Libyan (2.28%) 30 , 34 . In this context, it was rather unexpected to have found out that 17.4% of the Tunisian Arabs from Wesletia belonged to sub-haplogroup T-M70.…”

Section: Resultsmentioning

confidence: 98%

Insights into the Middle Eastern paternal genetic pool in Tunisia: high prevalence of T-M70 haplogroup in an Arab population

Elkamel

Marques

Álvarez

et al. 2021

Sci Rep

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To obtain refreshed insights into the paternal lineages of Tunisian populations, Y-chromosome diversity was assessed in two populations belonging to an Arab genealogical lineage, Kairouan and Wesletia, as well as in four Tunisian Andalusian populations, Testour, Slouguia, Qalaat-El-Andalous and El Alia. The Arabs from Kairouan revealed 73.47% of E-M81 and close affinities with Berber groups, indicating they are likely arabized Berbers, clearly differentiated from the Arabs from Wesletia, who harbored the highest frequency (71.8%) of the Middle Eastern component ever observed in North Africa. In the Tunisian Andalusians, the North African component largely prevailed, followed by the Middle Eastern contribution. Global comparative analysis highlighted the heterogeneity of Tunisian populations, among which, as a whole, dominated a set of lineages ascribed to be of autochthonous Berber origin (71.67%), beside a component of essentially Middle Eastern extraction (18.35%), and signatures of Sub-Saharan (5.2%), European (3.45%) and Asiatic (1.33%) contributions. The remarkable frequency of T-M70 in Wesletia (17.4%) prompted to refine its phylogeographic analysis, allowing to confirm its Middle Eastern origin, though signs of local evolution in Northern Africa were also detected. Evidence was clear on the ancient introduction of T lineages into the region, probably since Neolithic times associated to spread of agriculture.

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Paternal lineages in Libya inferred from Y‐chromosome haplogroups

Cited by 14 publications

References 62 publications

High Y‐chromosomal Differentiation Among Ethnic Groups of Dir and Swat Districts, Pakistan

High Y‐chromosomal Differentiation Among Ethnic Groups of Dir and Swat Districts, Pakistan

Evidence for prehistoric origins of the G2019S mutation in the North African Berber population

Insights into the Middle Eastern paternal genetic pool in Tunisia: high prevalence of T-M70 haplogroup in an Arab population

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