Genetics,geography, and culture: The population of S. Pietro Island (Sardinia,Italy)

An interesting aspect of the island of Sardinia (Italy) is the wide range of genetic variability within the island itself. The variability is widened by the presence of some populations of different ethnic origin who speak a language other than Sardinian. This work deals with the study of the genetic structure of the Carloforte population which inhabits the tiny island of S. Pietro 4 km off the southwest coast of Sardinia. S. Pietro was first populated in 1738 by emigrants coming from the island of Tabarka (Tunisia) who spoke an archaic form of the Ligurian dialect. Data on genetic polymorphisms in the Carloforte population are presented and discussed in relation to some Sardinian and Italian populations. Data on demographic and matrimonial structure are also presented. The genetic analyses show the Carloforte population as being clearly separated from both Sardinians and continental Italians. The isolation of Carloforte, highlighted by language diversity, endogamy, and consanguinity levels and marriage area, supports the idea of genetic diversity linked to cultural peculiarity. © 1996 Wiley-Liss, Inc.     

Red cell and serum protein polymorphisms in Sardinia

Four Sardinian population samples, from the provinces of Cagliari, Oristano, Nuoro and Sassari, were studied with regard to the erythrocyte enzyme systems ACP, ESD, PGM1, ADA, AK, 6PGD and Dia, and to the serum protein systems GC and C3. The findings showed a rather high degree of genetic heterogeneity of the Sardinians compared to the other populations from the Mediterranean area (Continental Italy, Sicily, Spain, North Africa).     

Genetic study of the population of Tenerife (Canary Islands,Spain): Protein markers and review of classical polymorphisms

Data on six protein polymorphisms (19 alleles) from the human population of Tenerife are presented and discussed along with other classical markers in relation to the origin of the Canarians. Genetic influences from three population groups were considered: the Iberians, and the Berbers and non-Berbers (Arabs) from north Africa. The systems examined show the Tenerife population lies within the limits of variation described for various Iberian groups, with a slight tendency towards the characteristics of north African populations. When blood groups, red cell enzymes and serum protein data were considered, the similarity of the Canary population to Iberians seems strengthened (70% estimated contribution of Iberian peninsula genes to the present-day Canarian pool), while some relation with north African groups is shown. Genetic distances between Canarians and Arabs and Canarians and Berbers are lower than those between the two north African groups, indicating a relative and comparable contribution of each to the present-day gene pool of the Canarian population. The Arab contribution could be attributable to the slaves who were introduced to these islands after the conquest in the 15th century, while the Berber contribution could be the remnants of the extinct aboriginal peoples of the islands (Guanches) or a more recent immigration due to slavery. Genetic data do not allow us to distinguish between these two possibilities. Am. J. Phys. Anthropol. 102:337–349, 1997. © 1997 Wiley-Liss, Inc.     

Genetic structure of the population of Cabo Verde (West Africa): Evidence of substantial european admixture

The population of Cabo Verde was founded in the fifteenth century (1462), on the basis of slaves brought from the West African coast and a few Europeans, mainly from Portugal. The polymorphism of six red cell enzymes (ADA, AK1, ALAD, ESD, GLO1, and PGD) and ten plasma proteins (AHSG, BF, F13A, F13B, GC, HP, ORM, PLG, TBG, and TF) was studied in a sample of 268 individuals from Cabo Verde (West Africa). There is no statistical evidence of genetic heterogeneity between the two groups of islands which constitute the archipelago, Barlavento and Sotavento. The gene frequency distribution observed in Cabo Verde differs, in many markers, from that of West African populations, suggesting an important European influence. The proportion of Caucasian genes in the population of Cabo Verde has been calculated to be M = 0.3634 ± 0.0510, and the considerable dispersion of the locus-specific admixture estimates seems to indicate random drift has also played a role in the evolution of the allele frequencies in the archipelago. Partition of the variance of the mean estimate in evolutionary and sampling variance shows the evolutionary variance is more than ten times higher than the sampling variance. When dendrograms are constructed on the basis of different genetic distances, the population of Cabo Verde clusters with Afro-Americans, forming a different group from the populations of the African continent. This is interpreted as a consequence of the importance of Caucasian admixture both in Afro-Americans and in the population of Cabo Verde. © 1995 Wiley-Liss, Inc.     

Peopling of three Mediterranean islands (Corsica,Sardinia, and Sicily) inferred by Y-chromosome biallelic variability

An informative set of biallelic polymorphisms was used to study the structure of Y-chromosome variability in a sample from the Mediterranean islands of Corsica and Sicily, and compared with data on Sardinia to gain insights into the ethnogenesis of these island populations. The results were interpreted in a broader Mediterranean context by including in the analysis neighboring populations previously studied with the same methodology. All samples studied were enclosed in the comparable spectrum of European Y-chromosome variability. Pronounced differences were observed between the islands as well as in the percentages of haplotypes previously shown to have distinctive patterns of continental phylogeography. Approximately 60% of the Sicilian haplotypes are also prevalent in Southern Italy and Greece. Conversely, the Corsican sample had elevated levels of alternative haplotypes common in Northern Italy. Sardinia showed a haplotype ratio similar to that observed in Corsica, but with a remarkable difference in the presence of a lineage defined by marker M26, which approaches 35% in Sardinia but seems absent in Corsica. Although geographically adjacent, the data suggest different colonization histories and a minimal amount of recent gene flow between them. Our results identify possible ancestral continental sources of the various island populations and underscore the influence of founder effect and genetic drift. The Y-chromosome data are consistent with comparable mtDNA data at the RFLP haplogroup level of resolution, as well as linguistic and historic knowledge.     

Genetic diversity among progenitors and elite lines from the Iowa Stiff Stalk Synthetic (BSSS) maize population: comparison of allozyme and RFLP data

Summary Data for restriction fragment length polymorphisms (RFLPs) of 144 clone-enzyme combinations and for 22 allozyme loci from 21 U.S. Corn Belt maize (Zea mays L.) inbreds were analyzed. The genetic materials included 14 progenitors of the Iowa Stiff Stalk Synthetic (BSSS) maize population, both parents of one missing BSSS progenitor, four elite inbreds derived from BSSS, and inbred Mo17. Objectives were to characterize the genetic variation among these 21 inbreds for both allozymes and RFLPs, to compare the results from both types of molecular markers, and to estimate the proportion of unique alleles in the BSSS progenitors. Genetic diversity among the 21 inbreds was substantially greater for RFLPs than for allozymes, but the percentages of unique RFLP variants (27%) and unique allozyme alleles (25%) in the BSSS progenitors were similar. Genetic distances between inbreds, estimated as Rogers' distance (RD), were, on average, twice as large for RFLP (0.51) as for allozyme data (0.24). RDs obtained from allozyme and RFLP data for individual line combinations were only poorly correlated (r = 0.23); possible reasons for discrepancies are discussed. Principal component analysis of RFLP data, in contrast to allozyme data, resulted in separate groupings of the ten BSSS progenitors derived from the Reid Yellow Dent population, the four BSSS elite lines, and Mo17. The remaining six BSSS progenitors were genetically rather diverse and contributed a large number of rare alleles to BSSS. The results of this study corroborate the fact that RFLPs are superior to allozymes for characterizing the genetic diversity of maize breeding materials, because of (1) the almost unlimited number of markers available and (2) the greater amount of polymorphisms found. In particular, RFLPs allow related lines and inbreds with common genetic background to be identified, but a large number of probe-enzyme combinations is needed to estimate genetic distances with the precision required.Joint contribution from Cereal and Soybean Research Unit, USDA, Agricultural Research Service, and Journal Paper No. J-14236 of the Iowa Agricultural and Home Economics Experiment Station, Projects 2818 and 2778     

Comparative analysis of biological and ecological differentiation of Anemone palmata L. (Ranunculaceae) in the western Mediterranean (France and Spain): an assessment of rarity and population persistence

The western Mediterranean geophyte Anemone palmata L. is one of the most endangered angiosperm taxa in France. The biological and ecological characteristics of French populations are contrasted with those of populations from near the centre of the species distribution in east Spain. A Correspondence Analysis discriminates the French and Spanish populations according to substrate and the composition of the plant communities where they grow. The karyological study reveals that east Spanish plants are autotetraploid, whilst the French are all diploid. In addition, morphological differences were registered, Spanish plants generally being more vigorous. French populations consist mostly of senile plants, without or with very low rates of sexual reproduction, whereas the populations from Spain include all age groups with an important percentage of juvenile plants. The main factors which could affect the French populations are habitat destruction and modification of plant communities due to land-abandonment. Conservation measures should be supported by immediate protection of the French localities and habitats to prevent the total decline of this rare species.  © 2002 The Linnean Society of London, Botanical Journal of the Linnean Society , 2002, 140 , 95–114.     

Genetic composition of Chilean aboriginal populations: HLA and other genetic marker variation

Phenotypes and gene frequencies for eight genetic systems are presented for five Chilean Indian tribes. Results agree with the pattern expected for Andean Indians. Genetic distances and dendrograms were obtained separately for HLA and traditional genetic markers. The similarity of both is noteworthy. Linguistic distances exhibit a correlation with genetic distances based on traditional markers. © 1996 Wiley-Liss, Inc.     

An anthropobiological study in Basse Kotto (Central Africa). I. Erythrocyte and sero-genetic markers: an analysis of the genetic differentiation

Phenotype and allele frequencies for hemoglobin types (Hb beta), acid phosphatase (AcP), phosphoglucomutase (PGM1 and PGM2), esterase D (EsD), 6-phosphogluconate dehydrogenase (6-PGD), glyoxalase I (GLO), superoxide dismutase (SOD A), and adenylate kinase (AK) as well as for haptoglobins (Hp), group-specific component (Gc), transferrin (Tf), Gm, and Inv groups and albumin, are reported in the Mbugu, Sango, Yakpa, and Baya Mandja ethnic groups in the Basse Kotto district of the Central African Republic. The total sample size amounts to 133 males and 128 females aged from 16 to 60, unrelated and healthy. A new albumin variant (albumin Mbugu) is described and discussed. The average heterozygosity is high in each group because of a high degree of exogamy. the FST average standardized value among the four groups indicates that the genetic differentiation in Basse Kotto is at level of about 2%. This indicates that the four examined groups might be considered genetically homogeneous, in spite of their different ethnic origins. The genetic distances among the four groups show that only the Baya Mandja are less closely related to the other three groups because of their foreign origin.     

Genetic variation within two linguistic Amerindian groups: relationship to geography and population size

Nine Carib and eight Tupi groups were studied for a minimum of eight common polymorphic systems and compared in terms of genetic distances using the methods of Nei and Edwards. Two levels of genetic information were distinguished, one with a maximum of 20 loci and another with a maximum of 12 loci considered. The dendrograms produced consistent, reproducible results, independent of the method used, when a minimum of ten polymorphic systems were included in the analysis. Irrespective of the number of systems or the method used, the Tupi showed two to three times higher average interpopulation genetic distances than the Carib groups, which may be due to their lower average population sizes, allowing for the action of genetic drift and/or founder effects, as these two sets of populations do not differ significantly in geographic range, years of contact with non-Indians, or degree of acculturation.     

X射线损伤修复交叉互补基因1(XRCC1)单核苷酸多态性与神经胶质瘤易感性关系的meta分析(英文)

目的:采用meta分析方法探讨X射线损伤修复交叉互补基因1(XRCC1)单核苷酸多态性与神经胶质瘤易感性的关系。方法:研究检索了PubMed、EMBASE、ISIWeb ofsciences、ScienceDirect及CNKI数据库从建库至2012年9月关于XRCC1基因多态性与神经胶质瘤相关性的相关文献。合并的OR值及其95%CI用于评估不同基因模型与神经胶质瘤风险的关联强度。采用亚组分析和meta回归分析来探索潜在的异质性来源。结果:研究最终纳入12篇Arg399Gln、8篇Arg194Trp和5篇Arg280His XRCC1位点多态性与神经胶质瘤关系文章用于meta分析。Arg399Gln位点多态性在所有基因模型下合并OR值均有显著意义;Arg194Trp位点多态性在纯合子基因模型和隐性基因模型下合并OR值具有显著意义;未发现Arg280His位点多态性与神经胶质瘤风险相关基因模型。亚组分析和meta回归分析显示Arg399Gln位点多态性的所有基因模型风险仅在亚洲人群当中具有显著意义,亚洲人群的风险显著高于白种人群。Arg194Trp对照组人群不符合Hardy-Weinberg平衡(HWE)可能高估了风险。结论:本研究结果显示XRCC1 Arg399Gln基因多态性仅为亚洲人群的神经胶质瘤风险的候选基因,Arg194Trp基因多态性的风险可能是由于对照组不符合HWE的研究所导致的。     

The peopling of Sardinia (Italy): history and effects

Over the last ten years the population of the Mediterranean island of Sardinia has been object of numerous studies in the fields of anthropology and population genetics. Its insularity, central position in the Mediterranean area and rich historical past have made the island a veritable laboratory for the study and understanding of those interacting evolutionary mechanisms which determine a population's genetic structure. Indeed, from work performed at different levels on genetic structure analysis there emerges an extremely complex picture of the relationships between Sardinian and other Italian and Mediterranean populations, but also of relationships within the Sardinian population itself The diversification from Mediterranean and Italian populations can be explained by Sardinia's historical and demographic past. Internal heterogeneity can be attributed, in part, to strict isolation and the accompanying high levels of endogamy and inbreeding, and in part to the endemic presence of malaria which exerted a strong selective pressure on some characteristics; determining, for example, the differentiation between the plains and the mountain areas. Finally, an influence on Sardinia's biological history not to be neglected could be attributed to the demographic events, which triggered off phenomena of genetic drift and to cultural factors.     

Surnames and dialects in France: population structure and cultural evolution

To study the isonymy structure of France as related to local language variations, the surname distributions of 6.03 million telephone users registered for the year 2002 were analysed in the 21 conterminous regions, their 94 departments and in 809 towns of the Country. For regions and departments the differences among local dialects were quantified according to the dialecto-metrization of the Atlas Linguistique Fran?ais. We found that Lasker's distance between regions was correlated with geographic distance with r=0.692+/-0.040, while Euclidean (r=0.546+/-0.058) and Nei's (r=0.610+/-0.048) distances were less correlated. Slightly lower correlations were observed for departments. Also, dialectometric distance was correlated with geography (r=0.582+/-0.069 for regions and r=0.617+/-0.015 for departments). The correlations between Lasker and dialectometric matrix distances for regions and departments are r=0.625+/-0.046 and 0.544+/-0.014, respectively, indicating that the common cause generating surname and language diversity accounts for about 35% of the differentiation. Both Lasker and dialectometric distances identify very similar boundaries between Poitou, Centre, Bourgogne and Franche Comptée at the North, and Aquitaine, Limousin, Auvergne, Rh?ne-Alpes in the South. Average Fisher's alpha for France was 7877 the highest value observed for the European countries studied to date. The size of alpha in most French towns indicates considerable recent immigration.     

Intra-population genetic diversity and its effects on outlining genetic diversity of ciliate populations: Using Paramecium multimicronucleatum as an example

Questions regarding ciliate distribution (endemism vs. cosmopolitanism) and degree of genetic diversity (high vs. low) remain unsettled, even when the same organism is under investigation. Presence of genes with high copy number and amplification of non-dominant haplotypes might account for the observed discordance in these studies. Herein, we used direct PCR and cloning sequencing to examine intra-population sequence diversity and its effect on assessments of phylogeography of Paramecium multimicronucleatum. Totally, 381 ITS1-5.8S rDNA-ITS2-28S rDNA and 304 mitochondrial cytochrome oxidase subunit I (COI) gene sequences were generated for 18 populations of P. multimicronucleatum. The following results were obtained: (1) Direct sequencing of PCR products captured the dominant ITS and LSU haplotypes, indicating that it is an appropriate strategy for constructing phylogeography of large-scale spatial populations. (2) Deep cloning was deemed more appropriate for the COI gene for population level studies, as direct sequencing could not easily capture the dominant haplotypes. (3) No endemic populations of P. multinucleatum were noted, indicating origin from a single founder population. (4) Nuclear genetic diversity within temporal populations was high, but only the dominant haplotypes seemed to be passed on to subsequent generations.     

Genetic diversity and its relationship to hybrid performance in maize as revealed by RFLP and AFLP markers

 The challenge to maize breeders is to identify inbred lines that produce highly heterotic hybrids. In the present study we surveyed genetic divergence among 13 inbred lines of maize using DNA markers and assessed the relationship between genetic distance and hybrid performance in a diallel set of crosses between them. The parental lines were assayed for DNA polymorphism using 135 restriction fragment length polymorphisms (RFLPs) and 209 amplified-fragment polymorphisms (AFLPs). Considerable variation among inbreds was detected with RFLP and AFLP markers. Moreover AFLPs detect polymorphisms more efficiently in comparison to RFLPs, due to the larger number of loci assayed in a single PCR reaction. Genetic distances (GDs), calculated from RFLP and AFLP data, were greater among lines belonging to different heterotic groups compared to those calculated from lines of the same heterotic group. Cluster analysis based on GDs revealed associations among lines which agree with expectations based on pedigree information. The GD values of the 78 F₁ crosses were partioned into general (GGD) and specific (SGD) components. Correlations of GD with F₁ performance for grain yield were positive but too small to be of predictive value. The correlations of SGDs, particularly those based on AFLP data, with specific combining-ability effects for yield may have a practical utility in predicting hybrid performance. Received: 15 August 1997 / Accepted: 19 September 1997     

Genetic diversity and evolutionary history of the Tyrrhenian treefrog Hyla sarda (Anura: Hylidae): adding pieces to the puzzle of Corsica–Sardinia biota

The Corsica–Sardinia archipelago is a hotspot of Mediterranean biodiversity. Although tempo and mode of arrival of species to this archipelago and phylogenetic relationships with continental species have been investigated in many taxa, very little is known about the current genetic structure and evolutionary history subsequent to arrival. In the present study, we investigated genetic variation within and among populations of the Tyrrhenian treefrog Hyla sarda, a species endemic to the Corsica–Sardinia microplate and the surrounding islands, by means of allozyme electrophoresis. Low genetic divergence (mean D_nei = 0.01) and no appreciable differences in the levels and distribution of genetic variability (H_E: 0.06–0.09) were observed among all but one populations (Elba). Historical demographic and isolation‐by‐distance analyses indicated that this diffused genetic homogeneity could be the result of recent demographic expansion. Along with paleoenvironmental data, such expansion could have occurred during the last glacial phase, when wide and persistent land bridges connected the main islands and a widening of lowland areas occurred. This scenario is unprecedented among Corsica–Sardinia species. Together with the lack of concordance even among the few previously studied species, this suggests either that species had largely independent responses to paleoenvironmental changes, or that most of the history of assembly of the Corsica–Sardinia biota is yet to be written. © 2011 The Linnean Society of London, Biological Journal of the Linnean Society, 2011, 103 , 159–167.     

Bridging the gap between microclimate and microrefugia: A bottom-up approach reveals strong climatic and biological offsets

In the context of global warming, a clear understanding of microrefugia—microsites enabling the survival of species populations outside their main range limits—is crucial. Several studies have identified forcing factors that are thought to favor the existence of microrefugia. However, there is a lack of evidence to conclude whether, and to what extent, the climate encountered within existing microrefugia differs from the surrounding climate. To investigate this, we adopt a “bottom-up” approach, linking marginal disconnected populations to microclimate. We used the southernmost disconnected and abyssal populations of the circumboreal herbaceous plant Oxalis acetosella in Southern France to study whether populations in sites matching the definition of “microrefugia” occur in particularly favorable climatic conditions compared to neighboring control plots located at distances of between 50 to 100 m. Temperatures were recorded in putative microrefugia and in neighboring plots for approximately 2 years to quantify their thermal offsets. Vascular plant inventories were carried out to test whether plant communities also reflect microclimatic offsets. We found that current microclimatic dynamics are genuinely at stake in microrefugia. Microrefugia climates are systematically colder compared to those found in neighboring control plots. This pattern was more noticeable during the summer months. Abyssal populations showed stronger offsets compared to neighboring plots than the putative microrefugia occurring at higher altitudes. Plant communities demonstrate this strong spatial climatic variability, even at such a microscale approach, as species compositions systematically differed between the two plots, with species more adapted to colder and moister conditions in microrefugia compared to the surrounding area.     

圈养小熊猫遗传多样性与种群遗传结构分析

小熊猫是亚洲特有的珍稀濒危动物,目前受到栖息地减少、片断化和人类活动干扰等威胁。中国圈养小熊猫已经有60 多年历史,约55 个机构曾经饲养过小熊猫,现今圈养数量有400 多只,评估小熊猫圈养种群的遗传多样性和遗传结构对科学维持圈养种群和保存遗传种质资源意义重大。本研究利用19 个微卫星座位,对中国境内11 个小熊猫圈养种群的116 只个体进行了遗传多样性评估及遗传结构分析。结果显示11 个种群都具有较高的遗传多样性,平均基因丰富度3.505 ± 1.033 (北京)至4.026 ± 1.219 (冕宁),期望杂合度0.631 ± 0.225(黄山)至0.782 ±0.171 (温岭)。其中福州和无锡种群极显著偏离Hardy-Weinberg 平衡。整个圈养群体内各个种群遗传分化系数为0.055,呈显著分化,表明11 个种群遗传分化水平较高。Bayesian 遗传聚类分析将11 个种群聚为三个遗传簇,与野生种群的遗传聚类结果一致。结论:小熊猫圈养种群与野生种群相比,同样具有较高的遗传多样性。因此,圈养小熊猫遗传管理的重点不再是引进野生个体充实圈养种群,应制订科学的繁殖计划,避免近交,从而维持圈养种群的遗传多样性。     

Genetic differentiation of two distinct chemotypes of Ferula communis (Apiaceae) in Sardinia (Italy)

The giant fennel, Ferula communis L. (Apiaceae) is a circum-Mediterranean species responsible of severe haemorrhagic intoxication of livestock. Electrophoretic analysis of 14 putative enzyme loci was carried out to assess genetic differentiation among poisonous and non-poisonous chemotypes of F. communis in Sardinia. Genetic structuring characterises all the five populations examined. However, differentiation was higher between poisonous and non-poisonous populations (P<0.00001), and was independent from geographic distances, suggesting a reduced gene flow between the two chemotypes.     

Genetic variability and population structure in Cypriot chukar partridges (Alectoris chukar cypriotes) as determined by microsatellite analysis

For the first time, microsatellite loci were used to study the genetic structure in Alectoris chukar cypriotes. Four of the ten tested microsatellite loci were found to be polymorphic in 33 individuals from four regions of Cyprus. The differentiation test between all the pairs of samples gave non-differentiation exact P values in every case (P>0.05). The posterior probability distribution on the number of source populations indicated only one population (P=0.977); also, a high Bayes factor value (130.020) was obtained. Posterior co-assignment probabilities (measures of similarity) for all pairs of individuals ranged from 0.984 to 1. The global F_IS value was not found to be significant. A recent bottleneck of the Cypriot total partridge population is suggested and this is supported by a significant Wilcoxon test (P=0.031) under the Infinite Alleles Model (IAM) and shifted mode in the alleles frequencies distribution. The results suggest that all the individuals studied belong to only one randomly mating (panmictic) population, with low genetic variation and evidence of recent effective population size reduction (genetic bottleneck). A big hunting pressure exists on the island and about 200,000 captive-bred birds are released every year; these individuals are descendant from a small number of eggs collected in a small area of Cyprus in 1986 and this founder effect could explain the existence of a bottleneck and the low genetic variability.