Structuring the genetic heterogeneity of the Basque population: a view from classical polymorphisms

In this study we analyze 18 classical polymorphisms (ABO, Rh, MNSs, Lewis, P, Duffy, Kell, ADA, ESD, PGM1, PGD, AK1, ACP1, GLO1, HP, GC, TF, and PI) in over 2000 autochthonous individuals from 14 natural districts in three provinces of the Basque Country (Alava, Guipuzcoa, and Biscay). Heterogeneity analysis via the chi2 test and a calculation of F(ST) indicate that there is significant genetic heterogeneity between the Basque districts. The R matrix informs us that this heterogeneity is not significantly concentrated in a single district or in the districts of a single province, but is rather distributed among several districts belonging to the three provinces analyzed. We undertake to assess the influence of various historical, geographical, and cultural factors on the genetic structure of the Basque population. Analysis suggests that allele distribution is geographically patterned in the Basque Country. The gradient distributions observed in the case of some alleles (ABO*O, RH*cDE, RH*cde, MNS*MS, and ACP1*C) on the basis of Moran's autocorrelation coefficient I, along with the influence of the two main travel routes through the Basque Country (western route through Bilbao and eastern route through Vitoria), suggest that the gene flow tends toward the coast. As regards other factors considered (administrative division, repopulation processes, linguistic heterogeneity, and north vs. south cultural heterogeneity), we detected only a certain influence exerted by an old tribal differentiation (2000 B.P.), which would diminish with the passage of time.     

Skin colour in the Basque population

Skin colour has been analysed in 352 males and 393 females of the Basques. Measurements of upper-arm reflectance were taken using 9 filters of an EEL reflectance spectrophotometer. Regional differences are not found. Sexual dimorphism is not equally revealed in all filters in the same manner, but females are, on average, lighter skinned than males. By means of Penrose's size ans shape distance comparisons were made with several European populations.     

Paternal population history of East Asia: sources, patterns, and microevolutionary processes

Asia has served as a focal point for human migration during much of the Late Pleistocene and Holocene. Clarification of East Asia's role as a source and/or transit point for human dispersals requires that this region's own settlement history be understood. To this end, we examined variation at 52 polymorphic sites on the nonrecombining portion of the Y chromosome (NRY) in 1,383 unrelated males, representing 25 populations from southern East Asia (SEAS), northern East Asia (NEAS), and central Asia (CAS). The polymorphisms defined 45 global haplogroups, 28 of which were present in these three regions. Although heterozygosity levels were similar in all three regions, the average pairwise difference among haplogroups was noticeably smaller in SEAS. Multidimensional scaling analysis indicated a general separation of SEAS versus NEAS and CAS populations, and analysis of molecular variance produced very different values of Phi(ST) in NEAS and SEAS populations. In spatial autocorrelation analyses, the overall correlogram exhibited a clinal pattern; however, the NEAS populations showed evidence of both isolation by distance and ancient clines, whereas there was no evidence of structure in SEAS populations. Nested cladistic analysis demonstrated that population history events and ongoing demographic processes both contributed to the contrasting patterns of NRY variation in NEAS and SEAS. We conclude that the peopling of East Asia was more complex than earlier models had proposed-that is, a multilayered, multidirectional, and multidisciplinary framework is necessary. For instance, in addition to the previously recognized genetic and dental dispersal signals from SEAS to NEAS populations, CAS has made a significant contribution to the contemporary gene pool of NEAS, and the Sino-Tibetan expansion has left traces of a genetic trail from northern to southern China.     

A genetically homogenous population of Fusarium circinatum causes pitch canker of Pinus radiata in the Basque Country, Spain

Pitch canker, caused by Fusarium circinatum, is a destructive disease of Pinus species and has recently been shown to represent a substantial threat to natural and commercial forests in northern Spain. The genetic diversity of F. circinatum in the Basque Country of Spain was assessed by characterising 96 isolates based on vegetative compatibility groups (VCGs), mating type assays, polymorphic DNA-markers and amplified fragment length polymorphism (AFLP) analyses. For this purpose, F. circinatum isolates were collected from diseased Pinus radiata as well as from insects associated with this host. Overall, a low level of diversity was detected in the population. The isolates represented only two VCGs and they were all of the same mating type. AFLP analyses revealed three genotypes and polymorphic DNA-markers specific for F.?circinatum showed nine genotypes. The most common genotypes represented 97% of all isolates for AFLP analysis and 68% of isolates for the polymorphic DNA-marker sets. Over all, this indicates that pitch canker in the Basque Country of Spain is caused by a clonally propagating population of F. circinatum, typical of a recently introduced pathogen.     

Invasion history and genetic population structure of riverine macroinvertebrates

Macroinvertebrate communities of large rivers have experienced dramatic species turnovers in the last decades, which still go on. The analysis of genetic population structure plays a central role in understanding and predicting these biological invasions. Two points of view are considered: the influence of the invasion history on the genetic structuring and the potential implications of genetic structure for future invasibility. Expectations about selectively neutral genetic variation in simple invasion models are compared to case studies of amphipods and Dreissena. The genetic patterns of one amphipod species of the Gammarus fossarum complex yield strong evidence for a stepwise regional colonisation. Other invasive amphipods show similar, but less clear genetic characteristics. Long-distance colonisation is probably common in Dreissena polymorpha, but subsequent downstream swamping of larvae obscures the expected genetic pattern by homogenising neighbouring populations.

First, a brief review of general characteristics of riverine invasions is followed by a discussion of the utility of genetic tools for inferring taxon and source population identity.     

a-b palmar interdigital ridge-count in the Basque population

The a-b palmar interdigital ridge count was analyzed in a sample of 841 males and 911 females of Basque origin. Bimanual differences were not found, against that a significant sexual dimorphism. The mean ridge count value is in the lower lange of the variability among White populations.     

Incidence of red-green color blindness in the Basque population

The incidence of red-green colour vision defects was studied in a sample of 392 Basque students (174 males and 218 females), using the Ishihara test cards (1987). The frequency of red-green colour blindness was 4.02 percent in the males and 0.46 percent in the females. The colour blindness frequencies found among males are within the range of other Spanish samples. Nevertheless they are lower than the values reported in other European populations.     

Hand clasping and arm folding in the Basque population

Hand clasping and arm folding have been analysed in 286 males and 455 females of the Basques. The results are compared with those from other Spanish populations. Examination of the association between hand clasping and arm folding shows a strong correlation between the right type of one and the left type of the other.     

Quantitative and qualitative finger dermatoglyphics in the Basque Valley of Urola, Spain

Digital dermatoglyphics of an indigenous sample of 87 males and 101 females from the Urola Valley in the Spanish Basque Country are compared with those from the nine other Basque valleys previously analyzed. In both sexes of the Urola Valley, there is a very high frequency of radial loops; the mean found in this valley extends the range of variation for South European-Mediterranean populations, and it is in the superior limit of all Caucasian populations. There are bimanual and sex differences in the frequencies of whorls and loops. Contrary to what occurs normally in populations, in the Urola Valley the frequency of whorls is higher in females and the quantitative value of digital patterns is lower in males. The results of this study show the existence of heterogeneity among valleys for digital trait frequencies and for finger ridge count, and this heterogeneity is more marked in females.     

Paternal effects on haddock early life history traits

Paternal effects on haddock Melanogrammus aeglefinus early life history traits were examined by crossing eggs and sperm in a nested design and analysing the progeny at 0, 5 and 10 days post‐hatch (dph). The proportion of the variance in early life history traits that was due to paternity was significant for hatching success, larval standard length, myotome height, jaw length and yolk size, but not eye diameter or yolk utilization efficiency. Some morphological traits were influenced more by paternity than maternity. The findings suggest that the importance of males in the early life history success of marine fishes be reconsidered.     

The Y-STR genetic diversity of an Idaho Basque population, with comparison to European Basques and US Caucasians

Fifty unrelated Basque males from southwest Idaho were typed for the 17 Y-STR loci in the Yfiler multiplex kit (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, YGATA H4.1 and DYS385a/b). In total, 42 haplotypes were identified, with no more than two individuals sharing a single haplotype. The haplotype diversity (HD) was 0.9935, and gene diversity (D) over loci was 0.457 ± 0.137. The Idaho Basque population was compared to the source population from the Basque autonomous region of Northern Spain and Southern France, as well as a United States Caucasian population. The haplotype diversity for the immigrant Basque sample is within 0.4% of the haplotype diversity of the European Basques (0.9903); thus the power of discrimination is similar for each population. The Idaho Basque population has less diversity in 9 out of 16 loci (considering DYS385a/b together) and 3% less diversity across all loci, compared to the European Basque population. A multidimensional scaling analysis (MDS) was created using pairwise R(ST) values to compare the Idaho Basques to other populations. Based upon R(ST) and F(ST) measures, no significant differentiation was found between the Idaho and source European Basque population.     

Seasonal succession of tintinnids in the Nervion River estuary, Basque Country, Spain

The seasonal succession of tintinnids was examined in the outerpart of the Nervión River estuary. Sampling was carriedout at monthly intervals from March 2000 to March 2002. In thisperiod, 21 species, belonging to 12 genera, were recorded, amongwhich Tintinnopsis was the most abundant genus, contributingup to 86% of the total ciliate abundance. The maximum abundancewas recorded in summer, with 7.4 x 10³ individuals L^-1 in July2001, while the lowest value occurred in winter. A significantand positive correlation was found between temperature and tintinnidabundance. Most of the species showed a distinct seasonal occurrenceand on this basis five different groups were differentiated.Two main changes in the species composition were recorded, onein March–April and the second in October–November.In this paper, the seasonal dynamics and the spatial distribution,as well as remarks on the morphology and ecology, of the mostimportant tintinnid species in the estuary are given.     

Risk factors associated with ixodid tick species distributions in the Basque region in Spain

Ixodid tick abundance was investigated in the Basque region in Spain in two 1-year longitudinal studies, in 1992-1993 and 2003-2004. Forty zones were visited monthly and 162 672 ticks (87% larvae, 12% nymphs and 1% adults) were collected by blanket dragging. Eleven tick species belonging to the genera Ixodes, Haemaphysalis, Rhipicephalus and Dermacentor were identified including Haemaphysalis concinna Koch, which had not previously been reported in Spain. Tick species abundance differed between zones, studies and seasons. In 1992-1993, Haemaphysalis punctata Canestrini & Fanzago was the predominant species and distinct spring-summer and autumn-early winter peaks of activity were observed. In 2003-2004, Ixodes ricinus (Linneaus) was the most common species and was active throughout the winter. Larval and nymph seasonal activity patterns coincided in both 1993 and 2003 and this could facilitate co-feeding transmission of pathogens. Higher tick abundance was associated with increased livestock abundance in 1992-1993 and milder winter temperatures in 2003-2004. Tick collection rates in areas with moderate and high tick density were positively associated with the interaction between ambient temperature at sampling and rainfall 7 days prior to sampling. Collection rates were also significantly higher at medium rather than higher altitude, in forested areas than in open grasslands and lower in recreational areas frequented by people and with wet vegetation at sampling.     

Paternal phylogeography and genetic diversity of East Asian goats

This study was a first analysis of paternal genetic diversity for extensive Asian domestic goats using SRY gene sequences. Sequencing comparison of the SRY 3′‐untranslated region among 210 Asian goats revealed four haplotypes (Y1A, Y1B, Y2A and Y2B) derived from four variable sites including a novel substitution detected in this study. In Asian goats, the predominant haplotype was Y1A (62%) and second most common was Y2B (30%). Interestingly, the Y2B was a unique East Asian Y chromosomal variant, which differentiates eastern and western Eurasian goats. The SRY geographic distribution in Myanmar and Cambodia indicated predominant the haplotype Y1A in plains areas and a high frequency of Y2B in mountain areas. The results suggest recent genetic infiltration of modern breeds into South‐East Asian goats and an ancestral SRY Y2B haplotype in Asian native goats.     

Autosomal STR variation in a Basque population: Vizcaya Province

We have characterized 68 unrelated Basque individuals from Vizcaya, Spain, for 13 tetrameric short tandem repeat (STR) loci: CSF1PO, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11, FGA, TH01, TPOX, and VWA. Interpopulational analyses were also performed for 21 European and North African population data sets for nine of the STRs typed in the Basque sample. Heterozygosity values for the Vizcayan Basques were found to be high, ranging from 0.662 to 0.882, and none of the STR loci significantly deviated from Hardy-Weinberg equilibrium. Based on the comparative population data set, the average G(ST) score is 0.7%, indicating a low degree of genetic differentiation. However, neighbor-joining trees and multidimensional-scaling plots of D(A) genetic distances indicate that the Vizcayan Basques are an outlier relative to both neighboring Iberians and North African populations.     

Paternal indirect genetic effects on offspring viability and the benefits of polyandry

Although females are expected to maximize their reproductive success with only one or a few matings, the females of many species mate with multiple partners. Experimental studies have found evidence for an increase in egg or embryo viability when females mate polyandrously. These studies have been interpreted in the context of genetic-benefit models that propose that multiple mating increases offspring viability because it allows females to select male genotypes that influence viability directly or because it allows females to avoid genetic incompatibility. However, no studies have examined directly the precise mechanisms by which parents influence embryo viability. Using a morphological marker that enabled us to determine paternity and survival of embryos sired by individual male crickets in both sperm-competitive and -noncompetitive situations, we show that males inducing high embryo viability enhance the viability of embryos sired by inferior males. These results indicate that paternal effects and interacting phenotypes determine embryo viability. They show that a male's reproductive success is modified by the interaction between indirect genetic effects of sperm competitors. Importantly, our findings show that the benefits accruing to offspring of multiply mated females need not be transmitted genetically.     

Selection on life‐history traits and genetic population divergence in rotifers

A combination of founder effects and local adaptation – the Monopolization hypothesis – has been proposed to reconcile the strong population differentiation of zooplankton dwelling in ponds and lakes and their high dispersal abilities. The role genetic drift plays in genetic differentiation of zooplankton is well documented, but the impact of natural selection has received less attention. Here, we compare differentiation in neutral genetic markers (F_ST) and in quantitative traits (Q_ST) in six natural populations of the rotifer Brachionus plicatilis to assess the importance of natural selection in explaining genetic differentiation of life‐history traits. Five life‐history traits were measured in four temperature × salinity combinations in common‐garden experiments. Population differentiation for neutral genetic markers – 11 microsatellite loci – was very high (F_ST = 0.482). Differentiation in life‐history traits was higher in traits related to sexual reproduction than in those related to asexual reproduction. Q_ST values for diapausing egg production (a trait related to sexual reproduction) were higher than their corresponding F_ST in some pairs of populations. Our results indicate the importance of divergent natural selection in these populations and suggest local adaptation to the unpredictability of B. plicatilis habitats.     

Ecological and life history characteristics predict population genetic divergence of two salmonids in the same landscape

Ecological and life history characteristics such as population size, dispersal pattern, and mating system mediate the influence of genetic drift and gene flow on population subdivision. Bull trout (Salvelinus confluentus) and mountain whitefish (Prosopium williamsoni) differ markedly in spawning location, population size and mating system. Based on these differences, we predicted that bull trout would have reduced genetic variation within and greater differentiation among populations compared with mountain whitefish. To test this hypothesis, we used microsatellite markers to determine patterns of genetic divergence for each species in the Clark Fork River, Montana, USA. As predicted, bull trout had a much greater proportion of genetic variation partitioned among populations than mountain whitefish. Among all sites, FST was seven times greater for bull trout (FST = 0.304 for bull trout, 0.042 for mountain whitefish. After removing genetically differentiated high mountain lake sites for each species FST, was 10 times greater for bull trout (FST = 0.176 for bull trout; FST = 0.018 for mountain whitefish). The same characteristics that affect dispersal patterns in these species also lead to predictions about the amount and scale of adaptive divergence among populations. We provide a theoretical framework that incorporates variation in ecological and life history factors, neutral divergence, and adaptive divergence to interpret how neutral and adaptive divergence might be correlates of ecological and life history factors.