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Location of Galacian population in the western corner of Europe 

Location of Galacian population in the western corner of Europe 

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Analysis of mitochondrial DNA (mtDNA) variation has become a useful tool for human population studies. We analysed the first hypervariable region of mitochondrial DNA control region (position 16024-16383) in 92 unrelated individuals from Galicia (Spain), a relatively isolated European population at the westernmost continental edge. Fifty different...

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... The present analysis tries to shed light on the general European genetic variation view by studying the westernmost European geographical edge (the Roman Finisterrae, the end of the Earth) through the analysis of the mtDNA hypervariable region I of the Galician population. Galicia is a region situated in the north- west extreme of the Iberian Peninsula (Figure 1) with specific characteristics. Its geographical isolation from the rest of the Iberian Peninsula, in addition to its migratory patterns (with high emigration rates through- out centuries and almost no immigration), has pre- served its identity, language, economy and especially its own cultural identity. ...

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... The Spanish territory of Galicia (Northwestern corner of Spain) would be a good candidate region for the c.1187G > A Ecuadorian mutation due two main reasons: (a) recently, the same mutation was found in a Galician patient (of European ancestry) 8 , and (b) another TGM1 mutation was also recently found in one of the Ecuadorian families 7 , c.2278 C > T, which was previously described to cause founder effects in the Galician population 6,8 . Furthermore, this Spanish region has recorded several other cases of founder effects related to other diseases 6,[34][35][36][37][38][39][40] . Therefore, both founder mutations could have arisen in Galician founder chromosomes and been brought to Ecuador during the colonization period about 425 ya, fitting with the TMRCA for this mutation in Ecuador. ...
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An unusually high frequency of the lamellar ichthyosis TGM1 mutation, c.1187G > A, has been observed in the Ecuadorian province of Manabí. Recently, the same mutation has been detected in a Galician patient (Northwest of Spain). By analyzing patterns of genetic variation around this mutation in Ecuadorian patients and population matched controls, we were able to estimate the age of c.1187G > A and the time to their most recent common ancestor (TMRCA) of c.1187G > A Ecuadorian carriers. While the estimated mutation age is 41 generations ago (~1,025 years ago [ya]), the TMRCA of Ecuadorian c.1187G > A carrier haplotypes dates to just 17 generations (~425 ya). Probabilistic-based inferences of local ancestry allowed us to infer a most likely European origin of a few (16% to 30%) Ecuadorian haplotypes carrying this mutation. In addition, inferences on demographic historical changes based on c.1187G > A Ecuadorian carrier haplotypes estimated an exponential population growth starting ~20 generations, compatible with a recent founder effect occurring in Manabí. Two main hypotheses can be considered for the origin of c.1187G > A: (i) the mutation could have arisen in Spain >1,000 ya (being Galicia the possible homeland) and then carried to Ecuador by Spaniards in colonial times ~400 ya, and (ii) two independent mutational events originated this mutation in Ecuador and Galicia. The geographic and cultural characteristics of Manabí could have favored a founder effect that explains the high prevalence of TGM1 c.1187G > A in this region.
... The first of these unexpected haplogroups is U6a1a, which was shared by a female adult and two male subadults buried in plot 4, and which has not previously been reported in Britain, to our knowledge. Superhaplogroup U6 is mainly associated with north Africa and is believed to have been introduced into that region about 50,000 years ago (Macaulay et al., 1999;Salas et al., 1998). The U6a haplogroup has a wide geographical distribution from the Canary Islands in the west to Syria and Ethiopia in the east, and from the Iberian Peninsula in the north to Kenya in the south (Maca-Meyer et al., 2003), but U6a1a is more restricted to northwest Africa with some presence in Iberia and southern Italy (Alvarez et al., 2010). ...
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We used ancient DNA sequencing to assign mitochondrial DNA (mtDNA) haplogroups to 29 individuals from a 19th century Primitive Methodist burial ground in Darwen, Lancashire, UK. The burial ground contained at least 142 skeletons distributed among 74 grave plots, just under half of which were multiple stacked interments. For five of the eight plots from which we studied multiple burials, the mtDNA haplogroups were consistent with maternal and/or sibling relationships among the co-interred individuals, supporting the hypothesis that individual burial plots contained members of the same family. The majority of the haplogroups that were identified have distributions that include northwest Europe and hence are not unexpected in a 19th century burial group from northern England. Exceptions were a female adult and two male subadults, from a single burial plot, who possessed haplogroup U6a1a, which is associated with northwest African populations and is less commonly found in Iberia and southern Italy, and a subadult of unknown sex who was tentatively assigned haplogroup A12a, which is primarily found in Native American populations. The results therefore provide an insight into the mobility and rich genetic makeup of the poor working class people of industrial Britain in the 19th century.
... The haplogroup composition of the Galician cohort fits well with the typical pool of western European populations. 64,65 There are four samples belonging to sub-Saharan L haplogroups 66,67 and two haplotypes ascribed to M1, a haplogroup that is mainly found in North Africa, the Mediterranean coast and the Middle East. 68 One of the samples is of Native American origin (Argentina; no O50) and belongs to the C1b haplogroup. ...
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Infertility has a complex multifactorial etiology and a high prevalence worldwide. Several studies have pointed to variation in the mitochondrial DNA (mtDNA) molecule as a factor responsible for the different disease phenotypes related to infertility. We analyzed 53 mitogenomes of infertile males from Galicia (northwest Spain), and these haplotypes were meta-analyzed phylogenetically with 43 previously reported from Portugal. Taking advantage of the large amount of information available, we additionally carried out association tests between patient mtDNA single-nucleotide polymorphisms (mtSNPs) and haplogroups against Iberian matched controls retrieved from The 1000 Genomes Project and the literature. Phylogenetic and association analyses did not reveal evidence of association between mtSNPs/haplogroups and infertility. Ratios and patterns in patients of nonsynonymous/synonymous changes, and variation at homoplasmic, heteroplasmic and private variants, fall within expected values for healthy individuals. Moreover, the haplogroup background of patients was variable and fits well with patterns typically observed in healthy western Europeans. We did not find evidence of association of mtSNPs or haplogroups pointing to a role for mtDNA in male infertility. A thorough review of the literature on mtDNA variation and infertility revealed contradictory findings and methodological and theoretical problems that overall undermine previous positive findings.
... Their results indicated some distinctive features in the Basque compared to other Iberian regions. Galicia (Northwest of the Iberian Peninsula) has also been the focus of interest because historically this region was relatively isolated from the rest of the Iberian Peninsula, with almost no recent immigration [16,17]. Like the Basque Country, Galicia preserved a strong cultural identity and a distinct language; its genetics patterns show also signatures of a cul-de-sac population expansion. ...
... The frequency of haplogroup H shows a decreasing trend from the Atlantic facade towards the Mediterranean and Andalusian regions. This finding adds strong evidence to the pioneering finding by Salas et al. [16], where Galicia was found to be a cul-de-sac population, a kind of European edge for a major ancient central European migration. Therefore, there is an interesting pattern of genetic continuity existing in the Cantabrian coast (also extending to Portugal), a pattern that has been observed previously when minor sub-clades of the mtDNA phylogeny were examined [12]. ...
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The Iberian Peninsula has been the focus of attention of numerous studies dealing with mitochondrial DNA (mtDNA) variation, most of them targeting the control region segment. In the present study we sequenced the control region of 3,024 Spanish individuals from areas where available data were still limited. We also compiled mtDNA haplotypes from the literature involving 4,588 sequences and 28 population groups or small regions. We meta-analyzed all these data in order to shed further light on patterns of geographic variation, taking advantage of the large sample size and geographic coverage, in contrast with the atomized sampling strategy of previous work. The results indicate that the main mtDNA haplogroups show primarily clinal geographic patterns across the Iberian geography, roughly along a North-South axis. Haplogroup HV0 (where haplogroup U is nested) is more prevalent in the Franco Cantabrian region, in good agreement with previous findings that identified this area as a climate refuge during the Last Glacial Maximum (LGM), prior to a subsequent demographic re-expansion towards Central Europe and the Mediterranean. Typical sub-Saharan and North African lineages are slightly more prevalent in South Iberia, although at low frequencies; this pattern has been shaped mainly by the transatlantic slave trade and the Arab invasion of the Iberian Peninsula. The results also indicate that summary statistics that aim to measure molecular variation, or AMOVA, have limited sensitivity to detect population substructure, in contrast to patterns revealed by phylogeographic analysis. Overall, the results suggest that mtDNA variation in Iberia is substantially stratified. These patterns might be relevant in biomedical studies given that stratification is a common cause of false positives in case-control mtDNA association studies, and should be also considered when weighting the DNA evidence in forensic casework, which is strongly dependent on haplotype frequencies.
... This is consistent with the thesis accepted that the frequencies of the mtDNA haplogroups in different European metapopulatiuons take similar values – cf. for example Torroni et al. 1996; Salas et al. 1998; Pereira, Prata, Amorim 2000; Mogentale-Profi zi et al. 2001; Grzybowski et al. 2007; Eupedia. European travel and history 2011b. ...
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... The Fst value between the Central Apennines groups and Northern Greece populations was the lowest, suggesting a stronger affinity between them than with the Italian peninsula (Northern Greece vs. Central Apennines 5 Fst 0.004; Supporting Information S- Table 4). All Fst values are reported in Supporting Information S- Table 4 and the references of populations are: Achilli et al., 2007, Achilli et al., 2011, Babalini et al., 2005, Bini et al., 2003, Brandst€ atter et al., 2007, Bosch et al., 2006, Comas et al., 1996, Corte-Real et al., 1996, Fraumene et al., 2006, Grzybowski et al., 2007, Irwin et al., 2008, Kouvatsi et al., 2001, Lehocky et al., 2008, Malyarchuk et al., 2003, Ottoni et al., 2009, Passarino et al., 2002, Plaza et al., 2003, Pichler et al., 2006, Poetsch et al., 2003, Richard et al., 2007, Salas et al., 1998, Sch€ onberg et al., 2011, Turchi et al., 2009, Turchi et al., 2008, Zgonjanin et al., 2010 As concerns the Y chromosome, the Rst representation map showed a peculiar situation because the whole male sample seems to be more similar to eastern Turkish and Azerbaijan samples. This finding suggested that the isolated mountain communities could share several haplotypes with Caucasian populations (Azeri vs. Central Apennines 5 Rst 0.019; Supporting Information S- Table 5). ...
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Objectives Analysis of human genetic variation in mountain communities can shed light on the peopling of mountainous regions, perhaps revealing whether the remote geographic location spared them from outside invasion and preserved their gene pool from admixture. In this study, we created a model to assess genetic traces of historical events by reconstructing the paternal and maternal genetic history of seven small mountain villages in inland valleys of Central Italy.Methods The communities were selected for their geographic isolation, attested biodemographic stability, and documented history prior to the Roman conquest. We studied the genetic structure by analyzing two hypervariable segments (HVS-I and HVS-II) of the mtDNA D-loop and several informative single nucleotide polymorphisms (SNPs) of the mtDNA coding region in 346 individuals, in addition to 17 short tandem repeats (STRs) and Y-chromosome SNPs in 237 male individuals.ResultsFor both uniparental markers, most of the haplogroups originated in Western Europe while some Near Eastern haplogroups were identified at low frequencies. However, there was an evident genetic similarity between the Central Italian samples and Near Eastern populations mainly in the male genetic pool.Conclusions The samples highlight an overall European genetic pattern both for mtDNA and Y chromosome. Notwithstanding this scenario, Y chromosome haplogroup Q, a common paternal lineage in Central/Western Asia but almost Europe-wide absent, was found, suggesting that Central Italy could have hosted a settlement from Anatolia that might be supported by cultural, topographic and genetic evidence. Am. J. Hum. Biol., 2015. © 2015 Wiley Periodicals, Inc.
... Percentages of mtDNAs belonging to typical African or Asian haplogroups, considered here as those belonging to L(ÂN), reached similar proportion (3%) in cases and controls. The amount of these lineages in our cohorts fit also with the proportion observed previously in other population studies carried out in the same geographical regions [Salas et al., 1998[Salas et al., , 2000Á lvarez-Iglesias et al., 2009]. Therefore, according to the haplogroup frequencies observed in cases and controls, we found no evidence of population stratification in our cohorts. ...
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... 34 The other mutation that was found in this study, BRCA1 p.R71G, which accounted for 50% of the mutations identified, is a Galician founder mutation that was first described by Vega et al. 35 Based on the mtDNA analysis, the Galician population is very homogeneous, with traits of a Culdesac population with a striking similarity to the Basque population owing to its geographic location and cultural barriers (dialect). 36 Others studies corroborate the restriction of this mutation in Galician or Hispanic descendants in Portugal, 37 USA 38,39 and Asturias (Northern Spain). 30 Although no Brazilian patient with the p.R71G reported a Spanish ancestry contribution, these patients presented considerable European ancestry contributions (Table 2), which was statistically significant (r = 0.604), and historical data corroborate the hypothesis that the Northeast region of Brazil has a high Spanish ancestry contribution, especially Galician, because the State of Bahia received more Galician immigrants than others states. ...
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... At the Mediterranean scale, the present study showed that the frequency of the T16189C variant in Tunisia is similar to most North Africans and Near Eastern populations and higher than that encountered in Mauritanians ($12.5 %) (Meiloud et al., 2013) and Europeans (Supplementary Appendices D–F). Position ofTurchi et al., 2009; Kefi et al., 2014), Present Study Qalaat El Andalous QAL 29 9 31 (Cherni et al., 2009) Capital Tunis CTU 98 33 34 (Cherni et al., 2009, Plaza et al., 2003) El Alia ELA 48 8 17 (Cherni et al., 2009) Zriba ZRI 35 7 20 (Cherni et al., 2009) Slouguia SLO 28 4 14 (Cherni et al., 2009) Testour TES 50 13 26 (Cherni et al., 2009)Plaza et al., 2003) Algerian Mozabites MOZ 85 42 49 (Corte-Real et al., 1996) MOROCCO NORTH AFRICA MOROCCO Southern Moroccan (Berbers) MBS 50 5 10 (Brakez et al., 2001) Northern Moroccan (Berbers) MBN 60 6 10 (Plaza et al., 2003) Moroccan Arabs MOA 50 17 34 (Plaza et al., 2003) Saharawi SAH 56 16 29 (Plaza et al., 2003) Marrakech MAR 52 15 29 (Falchi et al., 2006) Asni Berbers ASB 53 15 28 (Coudray et al., 2009) Bouhria Berbers BOB 70 21 30 (Coudray et al., 2009) Figuig Berbers FIB 94 23 24 (Coudray et al., 2009) Total North African sequences 2192 NEAR EAST PALESTINE-ISRAEL Palestinian-Israeli PAL 117 25 21 (Richards et al., 2000) Druze DRU 45 19 42 (Macaulay et al., 1999) SYRIA Syrian SYR 69 18 26 (Richards et al., 2000)Plaza et al., 2003) Andalusia (Granada Province) AGP 66 12 19 (Falchi et al., 2006)-Iglesias et al., 2009, Salas et al., 1998) Basque BAS 45 4 9 (Bertranpetit et al., 1995) Majorcan MAJ 112 14 13 (Falchi et al., 2006, Picornell et al., 2005) Minorcan MIN 46 4 9 (Picornell et al., 2005) Tunisians is mainly attributed to frequencies of the Sub-Saharan haplogroups L2, L3 and of the North African haplogroup U6 (Figure 2). These findings were confirmed by our phylogenetic study (Kefi et al., 2014) and were in accordance with a previous study using ancestry informative marker SNPs (). ...
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Abstract The mitochondrial DNA (mtDNA) variant T16189C has been investigated in several metabolic diseases. In this study, we aimed to estimate the frequency of the T16189C variant in Tunisian and other Mediterranean populations and to evaluate the impact of this variant on the phylogeny of Mediterranean populations. Blood sample of 240 unrelated Tunisian subjects were recruited from several Tunisian localities. The hypervariable region 1 of the mtDNA were amplified and sequenced. Additional sequences (N = 4921) from Mediterranean populations were compiled from previous studies. The average frequency of T16189C variant in Tunisia (29%) is similar to that observed in North African and Near Eastern populations. Our findings showed positive correlation of the T16189C variant with Sub-Saharan and North African lineages, while a negative correlation was found with the Eurasian haplogroups, reaching its maximum with the Eurasian haplogroup H. The principal component analyses showed a high internal heterogeneity between Tunisian localities. At the Mediterranean scale, Tunisians are closer to North African (Algerian and Moroccan) and Near Eastern populations (Syrians and Palestinians) than to Europeans.
... Recent large-scale data on autosomal SNPs and X-chromosomal markers have provided compelling evidence that the genetic structure of European populations correlates closely with geography (Nelis et al., 2009;November et al., 2008). Previously it has also been demonstrated that boundaries to gene flow across populations from Europe might also be maintained or arise from cultural-dependent factors such as language (Adams et al., 2008;Barbujani & Sokal, 1990;Cavalli-Sforza et al., 1994;Hurles et al., 1999;Roewer et al., 2005;Rosser et al., 2000;Salas et al., 1998;Xiao et al., 2004). ...
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Background: In the Iberian Peninsula, the Mirandese dialect, spoken in Miranda do Douro (Portugal) close to the north-eastern border with Spain, has attracted much attention. Aim, subjects and methods: This study focuses on providing further insight into the connections forged between Miranda do Douro and regions in the nearby Province of Zamora. This is in order to better assess the extent to which such relations could have been detained by the current patterns of genetic diversity of the populations, whilst contributing to refining the knowledge on patterns of micro-differentiation within the Peninsula. The genetic characterization of both populations was performed through the analysis of X-chromosomal markers: X-STRs and X-indels. Results and conclusion: The results showed that Miranda do Douro tended to present slightly lower levels of diversity in comparison to the other studied regions, which can be a discreet sign of isolation of that population over the years that might have led the way to the preservation of a language not spoken anywhere else in the country. The analysis of X-STRs particularly brought to light the presence of a subtle population sub-structure at the micro-geographical area encompassing the north-eastern border, which seems to portray the importance of the political border as a mechanism withholding gene flow between the two countries.