13 research outputs found

    Teresa O'Heyne ustezko euskal dibulgatzaile zientifikoaren inguruko datu berriak

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    In this paper we provide further information regarding Teresa O'Heyne, which become more credible the authenticity of this popular science writer. Although Teresa O'Heyne was born in Norway, according to new data Teresa grew up in a partially Basque-speaking family and she married a Basque-speaking man from Bermeo;moreover, Basque was the main language in the homes of their sons and daughters. lt seems she also spoke English. In short, it is quite acceptable that Teresa O'Heyne was the writer which drafted the text "Nola serbitu bear dan Peruco chori-ongarria eta dagoquion usaera lur landu bacoitzetan" (1878?) . Thus, Teresa O'Heyne wou ld be one of the first pioneers of the Basque popular science.; Idazlan honetan argibide gehiago aurkezten dira Teresa O'Heyneren inguruan.Uste dugu horrela sinesgarriagoa egingo deJa dibulgatzaile honen egiazkotasuna . Datu berrien arabera, Teresa O'Heyne, Norvegian jaioa izan arren. Bilbon hazi zuten erd ieuskalduna zen familia baten baitan. Bermeotar euskaldun batekin ezkondu zen eta euska.ra izan zen haren seme-alaben etxeetako hizkuntza. Badirudi ingelesez ere egiten zuela. Horiek horre la, nahikoa ona.rgarria da Teresa O'Heyne izatea "Nola serbitu bear dan Peruco chori-ongarria eta dagoquion usaera lur landu bacoitzetan" (1878 ?) testuaren paratzailea, eta, beraz, baita euskal dibulgazioaren aurrendari bat.lehen ordukoa

    Genomic Selection Signatures In Sheep From The Western Pyrenees

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    Background: The current large spectrum of sheep phenotypic diversity results from the combined product of sheep selection for different production traits such as wool, milk and meat, and its natural adaptation to new environments. In this study, we scanned the genome of 25 Sasi Ardi and 75 Latxa sheep from the Western Pyrenees for three types of regions under selection: (1) regions underlying local adaptation of Sasi Ardi semi-feral sheep, (2) regions related to a long traditional dairy selection pressure in Latxa sheep, and (3) regions experiencing the specific effect of the modern genetic improvement program established for the Latxa breed during the last three decades. Results: Thirty-two selected candidate regions including 147 annotated genes were detected by using three statistical parameters: pooled heterozygosity H, Tajima's D, and Wright's fixation index F-st. For Sasi Ardi sheep, chromosomes Ovis aries (OAR) 4, 6, and 22 showed the strongest signals and harbored several candidate genes related to energy metabolism and morphology (BBS9, ELOVL3 and LDB1), immunity (NFKB2), and reproduction (H2AFZ). The major genomic difference between Sasi Ardi and Latxa sheep was on OAR6, which is known to affect milk production, with highly selected regions around the ABCG2, SPP1, LAP3, NCAPG, LCORL, and MEPE genes in Latxa sheep. The effect of the modern genetic improvement program on Latxa sheep was also evident on OAR15, on which several olfactory genes are located. We also detected several genes involved in reproduction such as ESR1 and ZNF366 that were affected by this selection program. Conclusions: Natural and artificial selection have shaped the genome of both Sasi Ardi and Latxa sheep. Our results suggest that Sasi Ardi traits related to energy metabolism, morphological, reproductive, and immunological features have been under positive selection to adapt this semi-feral sheep to its particular environment. The highly selected Latxa sheep for dairy production showed clear signatures of selection in genomic regions related to milk production. Furthermore, our data indicate that the selection criteria applied in the modern genetic improvement program affect immunity and reproduction traits.The authors gratefully acknowledge support from the University of the Basque Country (UPV/EHU) and the Conservatoire des Races d'Aquitaine (US13/29

    Single nucleotide polymorphism discovery in albacore and Atlantic bluefin tuna provides insights into worldwide population structure.

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    The optimal management of the commercially important, but mostly over-exploited, pelagic tunas, albacore (Thunnus alalunga Bonn., 1788) and Atlantic bluefin tuna (BFT; Thunnus thynnus L., 1758), requires a better understanding of population structure than has been provided by previous molecular methods. Despite numerous studies of both species, their population structures remain controversial. This study reports the development of single nucleotide polymorphisms (SNPs) in albacore and BFT and the application of these SNPs to survey genetic variability across the geographic ranges of these tunas. A total of 616 SNPs were discovered in 35 albacore tuna by comparing sequences of 54 nuclear DNA fragments. A panel of 53 SNPs yielded FST values ranging from 0.0 to 0.050 between samples after genotyping 460 albacore collected throughout the distribution of this species. No significant heterogeneity was detected within oceans, but between-ocean comparisons (Atlantic, Pacific and Indian oceans along with Mediterranean Sea) were significant. Additionally, a 17-SNP panel was developed in Atlantic BFT by cross-species amplification in 107 fish. This limited number of SNPs discriminated between samples from the two major spawning areas of Atlantic BFT (FST = 0.116). The SNP markers developed in this study can be used to genotype large numbers of fish without the need for standardizing alleles among laboratories.This work was supported by ATM2010Hegaluze (351BI20090047), ATM2009Hegalabur (351BI20090034) and ATM2008Bonorte (ACM2008BONORTE) projects funded by the Basque Government, and the ACEITUNA (CTM2011-27505) project funded by the Spanish Ministerio de Economía y Competitividad

    Analysis of the genetic structure of the Basque population. DNA polymorphisms

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    The internal genetic variability studies carried out to date on the Basque population using conventional markers indicate a series of factors which make analysis difficult. Among these factors is the lack of rigour in some studies as regards specifying the origin of samples, the lack of match as regards the polymorphisms analysed in different studies and methodological problems in some analyses. @@ The aim of this study is to obtain an overall configuration of the internal genetic variability of the Basque population in the Iberian Peninsula via a uniform sampling system and method of analysis throughout the territory involved. To do this we carried out a genetic analysis of 18 population series: one province-wide sample (in Navarre) and 17 samples from natural districts in the provinces of Alava, Guipuzcoa, Navarre and Biscay. The study was carried out by analysing eight highly informative DNA genetic markers in a sample of 845 autochthonous Basque individuals. @@ The results obtained indicate genetic heterogeneity within the Basque population, explained equally between districts and provinces on the one hand and between provinces and the Basque Country as a whole on the other. The evaluation of gene flow in the area studied at district level indicates a trend, with the Goierri district of Guipuzcoa at one end and a group of districts in which more major gene flow has taken place at the other. These districts are Durango, Deba and Montaña Alavesa, which are characterised by standing on intra- or inter-provincial communication routes, and Iruñea and Llanada, which contain the provincial capitals of Iruñea and Gasteiz and are therefore meeting points for people from other districts. @@ The fact that there is greater similarity between the districts of a single province than between districts of different provinces, the inter-province genetic heterogeneity observed and the intra-province homogeneity found in Alava, Guipuzcoa and Navarre gives genetic consistency to the existence of these provinces. This can be interpreted as a residue of an ancient diversification which appears not to have been diluted by the effects of gene flow; or as a reflection of cultural manifestations, particularly language, for which similar frontiers exists (though these have not remained unchanged over time). @@ The absence of significant genetic differences between the Basque-speaking and Spanish-speaking provinces of the Basque country leads us to conclude that the decline in the use of the Basque language from its peak in the 10th century may be due to cultural replacement or a process of acculturation which has gradually reduced the area where Basque is spoken, rather than to any process of migration of allochthonous populations, which would have had different effects in different districts. @@ The hypothesis suggested in earlier studies that the watershed could be the genetic frontier between the two main groups of Basques, with a greater population mix in the south, does not seem to be supported by the results of this study. In topological and tree diagrams of multivariate analyses it is the provinces of Navarre and, especially, Biscay, which are closest to European series as a whole, while Alava is furthest away from those series. @@ These results point to a strong correlation between genetics, geography and language in the structuring of gene frequencies. Thus, the importance given to the local community as the basis for social organisation seems to entail the establishing of small units with gene flow basically between adjacent or neighbouring districts, but without reaching any genetic homogenisation in the area analysed in this stud

    Euskal zibilizazioaren hipotesia, giza populazioaren genetikaren alorretik aztertuta

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    Zientzialari gehienek euskaldunak Euskoakitaniar eskualdean antzinatik bizi garela onartzen dute. Euskal Zibilizazioaren hipotesiak aipaturikoa gainditu eta arkeologia, hizkuntzalaritza eta genetikaren alorretan ikusten diren zenbait antzekotasunetan oinarriturik, Europa osoan (eta Afrikan ere) euskal erroak izan zituen kontinente linguistiko, genetiko eta kulturala definitu du. Artikulu honetan, giza populazioen genetikaren alorretik aztertu da hipotesi hori. Analisi honen ondorioz, hipotesiak populazio-genetikaren oinarriak betetzen ez dituela agerian geratu da, batez ere hautespen naturalarekin erlazionaturiko gene bakarreko ikerketetan oinarrituta dagoelako. Euskal Zibilizazioa, bai populazio-genetikan, bai beste arlo batzuetan, (arkeologian edo hizkuntzalaritzan kasu), egun gainditu diren ondorio zientifiko zaharkituak berreskuratzean oinarritzen delarik, garrantzi zientifikorik ez duen hipotesia da

    Thrombotic Antiphospholipid Syndrome Shows Strong Haplotypic Association with SH2B3-ATXN2 Locus

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    Background : Thrombotic antiphospholipid syndrome is defined as a complex form of thrombophilia that is developed by a fraction of antiphospholipid antibody (aPLA) carriers. Little is known about the genetic risk factors involved in thrombosis development among aPLA carriers. Methods: To identify new loci conferring susceptibility to thrombotic antiphospholipid syndrome, a two-stage genotyping strategy was performed. In stage one, 19,000 CNV loci were genotyped in 14 thrombotic aPLA+ patients and 14 healthy controls by array-CGH. In stage two, significant CNV loci were fine-mapped in a larger cohort (85 thrombotic aPLA+, 100 non-thrombotic aPLA+ and 569 healthy controls). Results : Array-CGH and fine-mapping analysis led to the identification of 12q24.12 locus as a new susceptibility locus for thrombotic APS. Within this region, a TAC risk haplotype comprising one SNP in SH2B3 gene (rs3184504) and two SNPs in ATXN2 gene (rs10774625 and rs653178) exhibited the strongest association with thrombotic antiphospholipid syndrome (p-value = 5,9 × 10−4 OR 95% CI 1.84 (1.32–2.55)). Conclusion : The presence of a TAC risk haplotype in ATXN2-SH2B3 locus may contribute to increased thrombotic risk in aPLA carriers.This work was supported by the Basque Government (Etortek IE09-256, Saiotek S-PE10UN82 and Plan +Euskadi 09UE09+/57 to AMZ and Saiotek- PE08UN73 and Saiotek- PE09UN64 to AE) and by the UPV/EHU (UFI 11/20 to AMZ). Dr. Ruiz-Irastorza is supported by the Department of Education, Universities and Research of the Basque Government

    Multiple SNP Markers Reveal Fine-Scale Population and Deep Phylogeographic Structure in European Anchovy (Engraulis encrasicolus L.)

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    10 p.Geographic surveys of allozymes, microsatellites, nuclear DNA (nDNA) and mitochondrial DNA (mtDNA) have detected several genetic subdivisions among European anchovy populations. However, these studies have been limited in their power to detect some aspects of population structure by the use of a single or a few molecular markers, or by limited geographic sampling. We use a multi-marker approach, 47 nDNA and 15 mtDNA single nucleotide polymorphisms (SNPs), to analyze 626 European anchovies from the whole range of the species to resolve shallow and deep levels of population structure. Nuclear SNPs define 10 genetic entities within two larger genetically distinctive groups associated with oceanic variables and different life-history traits. MtDNA SNPs define two deep phylogroups that reflect ancient dispersals and colonizations. These markers define two ecological groups. One major group of Iberian-Atlantic populations is associated with upwelling areas on narrow continental shelves and includes populations spawning and overwintering in coastal areas. A second major group includes northern populations in the North East (NE) Atlantic (including the Bay of Biscay) and the Mediterranean and is associated with wide continental shelves with local larval retention currents. This group tends to spawn and overwinter in oceanic areas. These two groups encompass ten populations that differ from previously defined management stocks in the Alboran Sea, Iberian-Atlantic and Bay of Biscay regions. In addition, a new North Sea-English Channel stock is defined. SNPs indicate that some populations in the Bay of Biscay are genetically closer to North Western (NW) Mediterranean populations than to other populations in the NE Atlantic, likely due to colonizations of the Bay of Biscay and NW Mediterranean by migrants from a common ancestral population. Northern NE Atlantic populations were subsequently established by migrants from the Bay of Biscay. Populations along the Iberian-Atlantic coast appear to have been founded by secondary waves of migrants from a southern refuge.This work was supported by a research grant to IZ from the Education, Universities and Investigation Department of the Basque Government, by the European Commission (FACTS, FP7-KBBE-2009-3, grant agreement 244966) and two funded projects from the Ministry of Science and Innovation of Spain (RTA2006-00068-C02-02) and the Agriculture and Fisheries Department of the Basque Government (ECOANCHOA). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript
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