Post by Admin on Apr 5, 2021 5:57:10 GMT
Ancestry of the maternal lineages
Haplogroup frequencies of the Diaspora populations from Western USA and Argentina are showed in S4 Table.
Noticeable differences in haplogroup composition were found in the Diaspora groups of Western USA. Remarkably, in DDV group, all the haplogroups had Eurasian phylogeographic origin (Fig 2) [27]. The most common maternal lineage was R0 (50.61%) (excluding cluster HV0), as similarly occurs in most West Eurasian populations [28, 29]. The polymorphisms within the mitochondrial control region do not allow resolving the phylogeny of this clade in detail, even though 18.52% of the individuals could be assigned to H subhaplogroups. Furthermore, it was possible to detect other haplogroups commonly found in other European populations, namely U (16.05%), J (8.64%), K (8.64%), T (6.17%), X (6.17%), V (2.47%) and I (1.23%).
Fig 2. Distribution of Eurasian, Native American and African lineages in the Basque Diaspora populations.
Geographical origin of samples is indicated by a number, Boise (1), Reno (2), and Chino (3) from USA, and Buenos Aires province (4) from Argentina. Adapted from Wikimedia Commons (https://commons.wikimedia.org/wiki/File:America-blank-map-01.svg); photo of Blank Politic Map of Americas by DavoO, under the Creative Commons Attribution License (CCAL) CC BY 3.0.
doi.org/10.1371/journal.pone.0144919.g002
The DDA group from Western USA, despite the dominant presence of Eurasian mtDNA lineages (91.49%), also presented minor Native American (6.38%) and African (2.13%) contributions. Among the Eurasian lineages, the main haplogroup was R0 (46.81%) (excluding cluster HV0), followed by T (9.57%) and U (8.51%). Concerning the Native American haplogroups, all four major founding haplogroups were detected (A, B, C and D) [30]. The most frequent one was A2, with a frequency of 2.12% in the DDA sample and 33.33% among the Native American haplogroups. Two African haplogroups, L2a and L3h, were also found (1.06% each) [31, 32].
In Argentina, the DDV group presented a predominance of Eurasian mtDNA lineages with a frequency of 72.22%. The diversity of haplotypes of Eurasian origin was high (0.9902±0.0080), being R0 the most common haplogroup in the population (25%, excluding HV0), followed by U (12.50%) and J (8.33%). This population presented a substantially contribution of Native American lineages, with a value of 26.39%, being the lineage B4b (11.11%) the most frequent one. A minimal African component was detected, more particularly one individual belonging to L3f1b1a.
The ARG-DDA group also presented a trihybrid structure with a major Eurasian component (75.41%), followed by Native American (22.13%) and African (2.46%) components. Haplogroup R0 was the most frequent lineage, representing 33.61% of the DDA sample (excluding HV0) and 44.57% of all Eurasian haplogroups. The second most abundant haplogroup was U with a frequency of 14.75%. Among the Native American lineages, the two most common belonged to A2 and B4b haplogroups, with a 5.74 and 4.92%, respectively. On the other hand, African lineages corresponded to L3h (1.64%) and L1c (0.82%).
Basque genetic signature in Diaspora populations.
The maternal Basque contribution to the Diaspora groups here studied is well-established by the presence of autochthonous lineages from the Basque Country, namely U5b1f1a and J1c5c1 [3]. In this regard, U5b1f1a was detected in all Diaspora groups, but in a high percentage in the USA-DDV (11.11%) and Argentinean groups (ARG-DDA: 9.02% and ARG-DDV: 4.17%). On the other hand, although the lineage J1c5c1 was solely found in lower frequencies in these three groups (1.39–2.47%), the major haplogroup J was present in a notorious percentage in the four sample sets (5.32–8.64%), close to the 9–11% of the Basque samples [11, 24]. In the present study, it was not possible to define the V22 lineage, also considered as an autochthonous Basque marker [3], because of the lack of defining mutations in the control region. However, a percentage of 1.39–2.50% of lineages in the four Diaspora groups belonged to haplogroup V19’22, being potentially subsumed as V22. Other lineages, i.e. H1 and H3, have also been considered as potential Basque lineages, as they present elevated frequencies in Basque populations in northern Spain (H1: ~15% and H3: ~5%). In the present study, based on the control region analysis, lineages belonging to H1 were more frequent (2.78–7.50%) than H3 (0–2.50%) [12]. Moreover, recent studies have deepened in the phylogeny of this clade, identifying the variants of H lineages H1j1, H1t1, H2a5a1, H1av1, H3c2a, and H1e1a1 [25], or HV4a1a [33] as originated from the Basque region. Of these mtDNA variants, our analysis of the control region allowed the identification of H1t1 in the Diaspora populations. Another subhaplogroup described as a Basque Paleolithic marker is U8a, which presents a 1% frequency in the Basque Country [34]. However, other authors postulated about a Mediterranean origin for this haplogroup, as a higher percentage has been detected in that area (8.10%) [35]. In the present study, the presence of this variant has been rare, only observed in three individuals.
Haplogroup frequencies of the Diaspora populations from Western USA and Argentina are showed in S4 Table.
Noticeable differences in haplogroup composition were found in the Diaspora groups of Western USA. Remarkably, in DDV group, all the haplogroups had Eurasian phylogeographic origin (Fig 2) [27]. The most common maternal lineage was R0 (50.61%) (excluding cluster HV0), as similarly occurs in most West Eurasian populations [28, 29]. The polymorphisms within the mitochondrial control region do not allow resolving the phylogeny of this clade in detail, even though 18.52% of the individuals could be assigned to H subhaplogroups. Furthermore, it was possible to detect other haplogroups commonly found in other European populations, namely U (16.05%), J (8.64%), K (8.64%), T (6.17%), X (6.17%), V (2.47%) and I (1.23%).
Fig 2. Distribution of Eurasian, Native American and African lineages in the Basque Diaspora populations.
Geographical origin of samples is indicated by a number, Boise (1), Reno (2), and Chino (3) from USA, and Buenos Aires province (4) from Argentina. Adapted from Wikimedia Commons (https://commons.wikimedia.org/wiki/File:America-blank-map-01.svg); photo of Blank Politic Map of Americas by DavoO, under the Creative Commons Attribution License (CCAL) CC BY 3.0.
doi.org/10.1371/journal.pone.0144919.g002
The DDA group from Western USA, despite the dominant presence of Eurasian mtDNA lineages (91.49%), also presented minor Native American (6.38%) and African (2.13%) contributions. Among the Eurasian lineages, the main haplogroup was R0 (46.81%) (excluding cluster HV0), followed by T (9.57%) and U (8.51%). Concerning the Native American haplogroups, all four major founding haplogroups were detected (A, B, C and D) [30]. The most frequent one was A2, with a frequency of 2.12% in the DDA sample and 33.33% among the Native American haplogroups. Two African haplogroups, L2a and L3h, were also found (1.06% each) [31, 32].
In Argentina, the DDV group presented a predominance of Eurasian mtDNA lineages with a frequency of 72.22%. The diversity of haplotypes of Eurasian origin was high (0.9902±0.0080), being R0 the most common haplogroup in the population (25%, excluding HV0), followed by U (12.50%) and J (8.33%). This population presented a substantially contribution of Native American lineages, with a value of 26.39%, being the lineage B4b (11.11%) the most frequent one. A minimal African component was detected, more particularly one individual belonging to L3f1b1a.
The ARG-DDA group also presented a trihybrid structure with a major Eurasian component (75.41%), followed by Native American (22.13%) and African (2.46%) components. Haplogroup R0 was the most frequent lineage, representing 33.61% of the DDA sample (excluding HV0) and 44.57% of all Eurasian haplogroups. The second most abundant haplogroup was U with a frequency of 14.75%. Among the Native American lineages, the two most common belonged to A2 and B4b haplogroups, with a 5.74 and 4.92%, respectively. On the other hand, African lineages corresponded to L3h (1.64%) and L1c (0.82%).
Basque genetic signature in Diaspora populations.
The maternal Basque contribution to the Diaspora groups here studied is well-established by the presence of autochthonous lineages from the Basque Country, namely U5b1f1a and J1c5c1 [3]. In this regard, U5b1f1a was detected in all Diaspora groups, but in a high percentage in the USA-DDV (11.11%) and Argentinean groups (ARG-DDA: 9.02% and ARG-DDV: 4.17%). On the other hand, although the lineage J1c5c1 was solely found in lower frequencies in these three groups (1.39–2.47%), the major haplogroup J was present in a notorious percentage in the four sample sets (5.32–8.64%), close to the 9–11% of the Basque samples [11, 24]. In the present study, it was not possible to define the V22 lineage, also considered as an autochthonous Basque marker [3], because of the lack of defining mutations in the control region. However, a percentage of 1.39–2.50% of lineages in the four Diaspora groups belonged to haplogroup V19’22, being potentially subsumed as V22. Other lineages, i.e. H1 and H3, have also been considered as potential Basque lineages, as they present elevated frequencies in Basque populations in northern Spain (H1: ~15% and H3: ~5%). In the present study, based on the control region analysis, lineages belonging to H1 were more frequent (2.78–7.50%) than H3 (0–2.50%) [12]. Moreover, recent studies have deepened in the phylogeny of this clade, identifying the variants of H lineages H1j1, H1t1, H2a5a1, H1av1, H3c2a, and H1e1a1 [25], or HV4a1a [33] as originated from the Basque region. Of these mtDNA variants, our analysis of the control region allowed the identification of H1t1 in the Diaspora populations. Another subhaplogroup described as a Basque Paleolithic marker is U8a, which presents a 1% frequency in the Basque Country [34]. However, other authors postulated about a Mediterranean origin for this haplogroup, as a higher percentage has been detected in that area (8.10%) [35]. In the present study, the presence of this variant has been rare, only observed in three individuals.