Middle phalangeal hair in two Mediterranean Spanish populations

Data on middle phalangeal hair (MPH) among unrelated autochtonous individuals from Delta de l'Ebre and Murcia (Spain) show remarkable sexual differences in the Murcia population. The Delta de l'Ebre sample seems to have more pilosity than the Murcia sample. In the Spanish and Mediterranean variation range, Delta de l'Ebre is located between the populations with high pilosity while Murcia females show an extremely low value for this trait.     

Quantitative finger dermatoglyphics in the Mediterranean region of Murcia,Spain

Quantitative finger dermatoglyphics have been analyzed in a Spanish population on the Mediterranean coast, from a sample of 347 individuals (163 males and 184 females) whose four grandparents were born in the studied region (Murcia). From the prints of the sampled individuals, radial, ulnar, and maximal ridge counts have been examined using classical methodology according to the pattern orientation. Kolmogorov test was used to evaluate the normality of the count values. Paired t-test, t-test for two samples, and Wilcoxon and Mann-Whitney non-parametric U test were used to explore bimanual and sexual differences. Maximal and radial ridge counts show similar distributions fitting into a normal distribution. Instead, ulnar values show a particular distribution clearly different from normality. The bilateral and sexual differentiation patterns reveal the divergence between the ulnar counts and the maximal and radial values. In comparison to other Iberian populations our results show a particular position of Murcia with the lowest TFRC values in the Spanish variation ranges.     

Presence of Caulerpa racemosa (Forsskål) J. Agardh in Ceuta (Northern Africa, Gibraltar Area)

Caulerpa racemosa (Forsskål) J. Agardh has been recorded along the Mediterranean Sea since the 1920s, and since then has continually invaded its coasts moving westward towards the Atlantic. In recent years, authors have revealed the negative effect of the species on the Mediterranean’s benthic communities. Taking into account that the latest reference placed the species in Murcia (Southeastern Spain) in 2005, we now give evidence here of the presence of this invasive algae in Ceuta, a Spanish city located in the Strait of Gibraltar on the North Africa Coast. This is the first and westernmost recorded presence of the species in the area. Characteristics of the located patches are given.     

European population substructure: clustering of northern and southern populations

Using a genome-wide single nucleotide polymorphism (SNP) panel, we observed population structure in a diverse group of Europeans and European Americans. Under a variety of conditions and tests, there is a consistent and reproducible distinction between “northern” and “southern” European population groups: most individual participants with southern European ancestry (Italian, Spanish, Portuguese, and Greek) have >85% membership in the “southern” population; and most northern, western, eastern, and central Europeans have >90% in the “northern” population group. Ashkenazi Jewish as well as Sephardic Jewish origin also showed >85% membership in the “southern” population, consistent with a later Mediterranean origin of these ethnic groups. Based on this work, we have developed a core set of informative SNP markers that can control for this partition in European population structure in a variety of clinical and genetic studies.     

A new species of Empruthotrema (Monogenea: Monocotylidae) from Pteromylaeus bovinus (Myliobatidae) from the Western Mediterranean

Empruthotrema chisholmae n. sp. is described from specimens recovered from a bull ray Pteromylaeus bovinus (Geoffroy Saint-Hilaire, 1817) at the Oceanogràfic Aquarium in Valencia, Spain. The bull ray was caught in the Spanish Mediterranean (Puerto de Mazarrón, Murcia). The new species resembles 4 others of the same genus ( Empruthotrema dasyatidis Whittington and Kearn, 1992, Empruthotrema kearni Whittington, 1990, Empruthotrema stenophallus Chisholm and Whittington, 2005, and Empruthotrema tasmaniensis Chisholm and Whittington, 1999) in having a haptor with 13 marginal loculi, the posteriormost loculus single and medial. The new species can be distinguished from these other species of the genus by the morphology of the sclerotized male copulatory organ, which is the shortest described. The new species also differs from the other species by the following combination of features: haptor with 13 marginal loculi, the presence of eyespots, the absence of an accessory piece associated with the male copulatory organ, and a long egg appendage (more than 150 μm). Empruthotrema chisholmae is the first species of the genus reported from the Mediterranean.     

Protease inhibitor subtypes in some population groups from Israel

Results of protease inhibitor (PI) subtyping on polyacrylamide gel isoelectrofocusing of 599 Israeli non-Jews and 1,393 Israeli Jews are recorded. A discriminant analysis (DS) was performed on frequency data of the 5 PI alleles (M1, M2, M3, S and Z) with data of Europeans, Israeli non-Jews and Israeli Jews. A higher percentage of correct classification was obtained when Jews were treated as a separate population group rather than when distributed in their areas of origin. This suggests a greater resemblance, in the PI system, of the studied Jewish groups to each other than of the European Jews to Europeans and of the studied mediterranean Jews to Middle Eastern non-Jews. A cluster analysis disclosed distance relationships in a similar direction. PI allele distribution, in the studied Jewish samples, has the following characteristics: Jews share with Middle Eastern non-Jews an absence of PIZ, which is present in Europeans. Mediterranean Jews have higher frequencies than Ashkenazi Jews, of PIS alleles, which are absent in Middle Eastern non-Jews. European Jews are closer to the Europeans than Middle Eastern Jews in their PIM allele frequencies. An original common gene pool of Jews with Middle Eastern non-Jews is postulated, of which the Sephardic (Spanish) and Middle Eastern Jews differ, now, in having PIS, and European Jews differ in having slightly lower PIM3 and PIM2 and higher PIM1 frequencies. A possibility of admixture and selection, affecting different alleles in different Jewish communities at different times, is suggested to have contributed to the present-day deviations from the supposed original gene pool.     

Range of the Greater Flamingo, Phoenicopterus roseus , metapopulation in the Mediterranean: new insights from Turkey

Metapopulation conservation should rely on a flyway approach aiming at assessing the spatial range of metapopulations by estimating the level of exchanges among local populations. In the western Mediterranean, Greater Flamingos have been shown to constitute a metapopulation with natal and breeding dispersal among colonies. In this paper, we examine whether this metapopulation reaches Turkey using a band-resighting study. Our results are the first evidence of natal and breeding dispersal from the western Mediterranean to Turkey, and suggest that the Gediz Delta, one of the two Turkish breeding colonies, can play a significant role in the recruitment of flamingos from the western Mediterranean. In 2003 and 2004, breeders of western Mediterranean origin accounted for more than 1.2 and 1.9% of the estimated breeding population of the Gediz Delta, respectively. Our observations also indicate that the western Mediterranean and Southwest Asia may constitute two sets of populations, which overlap in Turkey. Finally, the resightings of flamingos banded in Turkey show that post-fledging dispersal from Turkey reaches both the eastern and western Mediterranean wetlands. Future data on the natal and breeding dispersal of flamingos born in Turkey could clarify further the connection between Turkey and the western Mediterranean metapopulation.     

Mutation analysis of phenylketonuria in Spain: prevalence of two Mediterranean mutations

Summary We have screened seven Spanish phenylketonuric (PKU) families for the most prevalent Mediterranean and Caucasian mutations, and have subsequently found mutations P281L and IVS10. We have analyzed these two mutations in 23 of our patients. The frequencies found correspond to those of Mediterranean countries, such as Italy. This is the first report of a mutation analysis in the Spanish PKU population.     

Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes

We have analysed 972 unrelated Spanish cystic fibrosis patients for 70 known mutations. Analysis was performed on exons 1, 2, 3, 4, 5, 6a, 6b, 7, 10, 11, 12, 13, 14a, 14b, 15, 16, 17b, 18, 19, 20 and 21 of the cystic fibrosis transmembrane regulator gene using single strand conformation polymorphism analysis and denaturing gradient gel electrophoresis. The major mutation F508 accounts for 50.6% of CF chromosomes, whereas another 42 mutations account for 27.6% of CF chromosomes, with 21.8% of Spanish CF chromosomes remaining uncharacterised. At present, we have identified 36 mutations that have frequency of less than 1% and that are spread over 15 different exons. This indicates that, in the Spanish population, with the exception of F508 (50.6%) and G542X (8%), the mutations are not concentrated in a few exons of the gene nor are there any predominating mutations. This high degree of genetic heterogeneity is mainly a result of the different ethnic groups that have populated Spain and of the maintenance of separated population sets (Basques, Arab-Andalusian, Mediterranean, Canarian and Gallician). The high proportion of CF chromosomes still unidentified (21.8%) together with association analysis with intragenic markers suggest that at least 100 different mutations causing CF are present in our population.     

HLA genes in the Chuvashian population from European Russia: admixture of Central European and Mediterranean populations

HLA alleles have been determined for the first time in individuals from the Chuvashian population by DNA typing and sequencing. HLA-A, -B, -DR, and -DQ allele frequencies and extended haplotypes have also been determined, and the results compared to those for Central Europeans, Siberians and other Asians, Caucasians, Middle Easterners, and Mediterranean peoples. Genetic distances, neighbor-joining dendrograms, and correspondence analysis have been performed. Present-day Chuvash speak an Altaic-Turkic language and are genetically related to Caucasians (Georgians), Mediterraneans, and Middle Easterners, and not only to Central or Northern Europeans; Chuvash contain little indications of Central Asian-Altaic gene flow. Thus, present-day Chuvash who speak an Altaic-Turkic language are probably more closely related to ancient Mesopotamian-Hittites and northern European populations than to central Asia-Altaic people.     

Ethnic differences in the linkage disequilibrium and distribution of single-nucleotide polymorphisms in 35 candidate genes for cardiovascular diseases

Single-nucleotide polymorphisms (SNPs) are commonly used to study genetics for common diseases and predict pharmacological response. The selection of likely informative SNPs in association studies depends on their allele frequencies and on the linkage disequilibrium (LD) between SNPs, both of which may show interethnic differences. Among three populations consisting of 207 Chinese, 858 French, and 395 Spanish, we compared the allele frequency distributions of 64 intragenic SNPs of 35 candidate genes for cardiovascular diseases. Twenty-eight of these SNPs from 12 genes were also examined for intragenic LD. About 20% of SNPs were restricted to Europeans, being monomorphic in Chinese, among them mostly nonsynonymous coding SNPs and noncoding SNPs. Only 1.6% of SNPs were specific in Chinese, commensurate with the detection of these SNPs almost exclusively in Caucasians. Similarly, these SNPs were more often rare (<0.1 minor allele frequency) in Chinese (44.3%) than in Europeans (31.1%). The variant allele frequencies and intermarker LDs in terms of D' and Delta(2) were highly correlated between French and Spanish populations (r = 0.98-0.99, p < 0.001). However, only moderate correlations of allele frequencies and D' were found between the Chinese and the European populations (r = 0.7 and 0.3, respectively) despite a high correlation of Delta(2) values (r = 0.8). These results suggest that ethnic considerations are important in the selection of SNPs for association studies of candidate genes, as this may affect the power of the study as well as the likelihood of asking relevant questions and getting medically meaningful answers.     

Stature estimation in extinct Aónikenk and the myth of Patagonian gigantism

The Aónikenk were a hunter-gatherer group that inhabited the southern extreme of Patagonia at European Contact and became extinct at the end of the 19th century. The myth of Patagonian gigantism developed around these aborigines from early Spanish explorer accounts. In this study, the postcranial remains belonging to the Aónikenk (Patagonia) and the Selk'nam (Tierra del Fuego) preserved at the Instituto de la Patagonia (UMAG, Chile) have been measured, using standard metrics. Different stature estimations for these groups have been generated, by using the different regression formulae available. Aónikenk male stature appears to be between 174 and 178 cm on average, whereas the Selk'nam are considerably shorter. In addition, stature estimations from Spanish populations dating to the contact period have been compiled for comparison. While it can be concluded that the Aónikenk probably presented the highest stature values of all Meso- and South American populations, it is suggested that the perception of their gigantism could be partially attributed to the real difference in stature (probably more than 10 cm) between these aborigines and contemporaneous Europeans. Am J Phys Anthropol 105:545–551, 1998. © 1998 Wiley-Liss, Inc.     

Bonamia exitiosa (Haplosporidia) observed infecting the European flat oyster Ostrea edulis cultured on the Spanish Mediterranean coast

Bonamia exitiosa and Bonamia ostreae are parasites that reproduce within the haemocytes of several oyster species. In Europe, the host species is the flat oyster Ostrea edulis. The parasite B. ostreae has been responsible for mortalities since the late 1970s throughout the European Atlantic coast. B. exitiosa was first detected, in 2007, on this continent in flat oysters cultured in Galicia (NW Spain). Since then, the parasite has also been detected in France, Italy and the United Kingdom. The bays of the Ebro Delta in the south of Catalonia represent the main bivalve culture area in the Mediterranean coast of Spain. Previous information from the area includes reports of several flat oyster pathogens, including the notifiable parasite Marteilia refringens. However, the status with regard to Bonamia parasites was uncertain. In the present study, a Bonamia parasite was observed in flat oysters cultured in the Alfacs Bay of the Ebro Delta by histology and real-time PCR. PCR-RFLP and sequencing suggested the presence of B. exitiosa. Finally, phylogenetic analyses of the studied Bonamia isolates corroborated B. exitiosa infection. M. refringens was also observed in the same oyster batch, and co-infection with both parasites was also detected. This is the first detection of B. exitiosa, in Catalonia and the Spanish Mediterranean coast. The impact of the parasite on the Mediterranean flat oyster activity needs to be urgently addressed.     

Searching the peopling of the Iberian Peninsula from the perspective of two andalusian subpopulations: a study based on Y-chromosome haplogroups J and E

This study aims at a high-resolution analysis of Y-chromosome J and E haplogroups among Andalusians to reconstruct Neolithic, protohistorical and historical migrations in the Mediterranean region. Genotyping of two samples from Granada (n=250 males) and Huelva (n=167 males) (Spain) with Y-chromosome binary and microsatellite markers was performed, and the results compared with other Mediterranean populations. The two samples showed genetic differences that can be associated with different evolutionary processes. Migrations toward Andalusia probably originated in the Arabian Peninsula, Fertile Crescent, Balkan region and North Africa, and they would have predominantly occurred in protohistoric and historic times. Maritime travel would have notably contributed to recent gene flow into Iberia. This survey highlight the complexity of the Mediterranean migration processes and demonstrate the impact of the different population sources on the genetic composition of the Spanish population. The main in-migrations to Iberia most likely did not occur through intermediate stages or, if such stages did occur, they would have been very few.     

Alpha thalassaemia in British people.

Although alpha thalassaemia is rare in north Europeans, it has been identified in British people with no known foreign ancestry. Twelve such patients were studied, of whom eight shared a distinctive molecular defect, which was clearly different from defects seen in subjects of Mediterranean or South East Asian origin. A rare but specific form of alpha thalassaemia is therefore present in the British population. In addition, two patients from families of mixed racial origin were encountered who had a moderately severe form of thalassaemia (HbH disease) due to the inheritance of one form of alpha thalassaemia from the British parent and another type from the foreign parent. This shows the importance of careful genetic counselling of British patients with haematological findings of thalassaemia.     

Molecular variation in endothelial nitric oxide synthase gene (eNOS) in western Mediterranean populations

Endothelial nitric oxide synthase (eNOS or NOS3) is the main responsible for nitric oxide (NO) production in vascular system and different polymorphisms have been identified in epidemiological studies. Trying to test the eNOS genetic variation in general populations we studied the 27-bp VNTR in intron 4 and G894T substitution in exon 7 markers in 6 Western Mediterranean populations (3 from Iberian Peninsula, 1 from North Africa, and 2 from Sardinia) and a sample from Ivory Coast. The VNTR frequencies in Western Mediterranean and Ivory Coast fit well into the ranges previously described for Europeans and Sub-Saharans respectively, and a typical African allele has been detected in polymorphic frequencies in the Berber sample. The G894T substitution presents the highest frequencies described for the T allele in the North Mediterranean populations. Linkage disequilibrium is present between both markers in all populations except in the Ivory Coast sample. The variation found for these polymorphisms indicates that they may be a useful tool for population studies even at microgeographical level.     

Winter distribution and population change of Red-crested Pochard Netta rufina in southwestern and central Europe

Under the African-Eurasian Waterbird Agreement (AEWA) of the Convention on Migratory Animals (Bonn Convention), the Red-crested Pochard Netta rufina has a high conservation priority in Europe. This is particularly the case for the southwest/central European flyway population, which is considerably smaller than the southeast European and Asian ones. Data from the International Waterbird Census from 1967 to 1994 indicate that the flyway population has remained at a similar level between the mid-1980s and mid- 1990s, but is likely to be smaller than it was in the 1970s. Population size in January is estimated to be between 25 000 and 30 000 individuals. In winter, the Red-crested Pochard is concentrated at a small number of sites. In the period 1985–94, 75% of the population were observed at the six main sites: Laguna de Gallocanta, Albufera de Valencia, Delta del Ebro, Marismas del Guadalquivir (all in Spain), Camargue (France) and Lac de Neuchâtel (Switzerland). In January, 39 sites held ≥1% of the population at least once between 1975 and 1994. The Red-crested Pochard has recently shown a marked change in its winter distribution, and two patterns emerged: (1) a shift from the western Mediterranean to the region north of the Alps; and (2) the use of a greater number of sites.     

Reconstructing population history using JC virus: Amerinds, Spanish, and Africans in the ancestry of modern Puerto Ricans.

The roots of the Hispanic populations of the Caribbean Islands and Central and South America go back to three continents of the Old World. In Puerto Rico major genetic contributions have come from (1) Asians in the form of the aboriginal Taino population, an Arawak tribe, present when Columbus arrived on the Island, (2) Europeans, largely Spanish explorers, settlers, government administrators, and soldiers, and (3) Africans who came as part of the slave trade. Since JC virus (JCV) genotypes characteristic of Asia, Europe, and Africa have been identified, and excretion of JCV in urine has been proposed as a marker for human migrations, we sought to characterize the JCV strains present in a Caribbean Hispanic population. We found that the strains of JCV present today in Puerto Rico are those derived from the Old World populations represented there: Types 1B and 4 from Spain, Types 3A, 3B, and 6 from Africa, and Type 2A from Asia. The Type 2A genotype represents the indigenous Taino people. This JCV genotype was represented much more frequently (61%) than would be predicted by the trihybrid model of genetic admixture. This might be attributable to characteristics of JCV Type 2A itself, as well as to the nature of the early relationships between Spanish men and native women. These findings indicate that the JCV strains carried by the Taino Indians can be found in today's Puerto Rican population despite the apparent demise of these people more than two centuries ago. Therefore, molecular characterization of JCV provides a tool to supplement genetic techniques for reconstructing population histories including admixed populations.     

A large testudinid with African affinities in the post-Messinian (lower Pliocene) record of south-eastern Spain

Herein, we describe Alatochelon myrteum gen. et sp. nov., a large tortoise from the post-Messinian (lower Pliocene) of the area of Puerto de la Cadena (Region of Murcia), Spain. The new taxon cannot be attributed to Titanochelon, which represented the only lineage of large tortoises previously recognized in the Neogene record of Europe. Alatochelon myrteum shows African affinities, especially with the extant African spurred tortoise Centrochelys sulcata. Although close phylogenetic relationships have previously been recognized among some tortoises of both continents, the dispersal of this lineage had always been proposed as having occurred in only one direction: from Europe to Africa. The dispersal of the lineage including the new Spanish form and Centrochelys sulcata from Africa to Europe is proposed here. This proposal is compatible with those previously recognized for some lineages of mammals also found in Puerto de la Cadena, identified as African lineages that probably reached Europe during the Messinian Salinity Crisis event. An African origin is also proposed for the lineage of Titanochelon. Therefore, the two lineages of large derived testudinids (i.e. Geochelona) recognized in the European record experienced diachronic dispersal events from Africa to Europe: that to which Alatochelon belongs probably during the Messinian and the other much earlier, at the beginning of the Miocene or before.