Sheep blood polymorphism and genetic divergence between French Rambouillet and Spanish Merino: role of genetic drift

Rambouillet sheep originating from Spanish Merino have been maintained in France as a small and closed flock since their importation. After 190 years of independent evolution, the flock has markedly differentiated from its Spanish parental population. The observed differences between them were characterized by the fixation in Rambouillet of the Mb and F30 alleles, which occurred in Spanish Merino with frequencies of 0.90 and 0.80 respectively (at two distinct blood group loci M and F30) and by the absence in Rambouillet of other alleles or phenogroups (at the Tf and the A, B, C blood group loci) which were observed in Spanish Merino with frequencies ranging from 0.10 to 0.28. On the basis of their phenotypic distributions at 11 blood polymorphic loci, the two populations differed significantly from each other (total chi 2 values = 352.62, 23 df, P less than 0.001). By comparing the observed magnitude of gene frequency differences between Rambouillet and Spanish Merino with the estimate of inbreeding coefficient for Rambouillet obtained from pedigrees, it appeared that the observed genetic differences could be attributed to the evolutionary change due to random drift in the small and closed flock of Rambouillet.     

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.     

Apolipoprotein A1 gene polymorphisms at the -75 bp and +83/ 84 bp polymorphic sites in healthy Omanis compared with world populations

The relative frequencies of the *A allele of the APOA1 gene at -75 bp (M1-) and the C or T +83/+ 84 bp allele (M2-) varied significantly between populations. We found the frequencies of M1- and M2- to be 0.22 and 0.067, respectively, in 150 healthy Omanis. These frequencies were compared to frequencies found in other world populations.     

Mitochondrial DNA variation in Moroccan and Spanish honey bee populations

The mitochondrial DNAs of 192 Moroccan and 173 Spanish honey bee colonies were characterized by a rapid test involving the restriction by DraI of a PCR-fragment of the COI-COII region. In Morocco, we found eight haplotypes, all characteristic of the African (A) lineage, suggesting that most if not all the maternal lineages of the colonies repeatedly imported from Europe over the last 150 years have not contributed mitochondrial genomes to the local population. Using two new genetic distances analogous to the shared allele distance defined for nuclear genes, we showed that Morocco was most probably colonized by two sublineages, one from the north-east and the other one from the south of the country and that the contact zone between them extends along both sides of the Atlas range. In Spain, we found eight haplotypes characteristic of lineage A (six in common with Morocco) and four of lineage M (the West European lineage). The distribution of haplotypes of both lineages forms a gradient with c. 10% of lineage M in the south of Spain (Seville) and up to 100% in the north (San Sebastian). Three hypotheses are presented to explain the large differences of haplotype frequencies between Moroccan and lineage A Spanish colonies: a non-Moroccan origin of lineage A in Spain, an ancient Moroccan origin or a recent Moroccan origin with a rapid shift of haplotype frequencies due to a founder effect.     

Orosomucoid (ORM1 and ORM2) types in the Spanish Basque Country, Galicia and northern Portugal

The genetic variation of orosomucoid (ORM1 and ORM2) in three south-western European populations (Galicia, Spanish Basque Country and northern Portugal) was investigated using hybrid isoelectric focusing. Three common ORM1 alleles were observed in these populations, the frequencies of ORM1 *S observed in Galicia and northern Portugal being the highest found among populations of European origin. Rare variants were observed for both the ORM1 and ORM2 loci.     

Analysis of the phenylalanine hydroxylase gene in the Spanish population: mutation profile and association with intragenic polymorphic markers.

The aim of this study was to characterize the phenylketonuria (PKU) alleles in the Spanish population, by both identifying the causative mutations and analyzing the RFLP haplotypes and the VNTR and short-tandem-repeat alleles associated with the phenylalanine hydroxylase (PAH) gene. We have investigated 129 independent mutant chromosomes, using denaturing gradient gel electrophoresis (DGGE) and direct sequencing. Ninety percent of the alleles were identified, and a total of 40 different mutations were detected. The mutational spectrum includes seven previously unreported mutations: P122Q, D129G, P147S, D151G, A165T, S196fs, and P407S. Seven mutations represent 43% of the Spanish PKU alleles, the most common being IVS10nt-11g-->a (14.7%), I65T (8.5%), and V388M (6.2%). The remaining 33 mutations are rare. The mutation profile and relative frequencies are markedly different from those in northern Europe, also showing unique features compared with those in other, southern European populations. The association analysis with polymorphic markers in the PAH gene provides valuable information for population-genetic studies and investigation of the origins of the mutations. This study may serve as reference in the analysis of the contemporary distributions and frequencies of the PKU mutations in related populations, with particular relevance in Latin American countries.     

Electrophoretic markers of Andalusian horses: comparison of Spanish and Lusitanian lineages

Genetic variants at eight blood loci were analysed, disclosing in Andalusian breed six rare markers: variants J of transferrin, H of esterase, D and S of Xk, M and W of prealbumin. Two of these, TfJ and PrM appear as characteristic markers of Andalusian breed. Allelic frequencies showed minor differences between Spanish (300 horses) and Lusitanian (100 horses) populations. Comparison was established with historically related breeds, Thoroughbreds or Connemara, and with Arab horses because of a presumed relationship. No visible similarities in genetic profiles were found with two former breeds, nor with Arab horses. Unpredicted similarities were found however between Tarpans and Andalusian horses, appearing rather as convergences than witnessing a common ancestry.     

Frequency of the ESD*5 allele in a Spanish population

The red blood cell esterase D (ESD) polymorphism was studied by means of IEF in a North-East Spanish population (Barcelona). Gene frequencies in 430 unrelated individuals were ESD*1: 0.888, ESD*2: 0.091 and ESD*5: 0.021. Our data confirm previous results showing that ESD*5 occurs in polymorphic frequency and has a Caucasian origin.     

Distribution of transferrin subtypes in Tarragona (east Spain).

The distribution of transferrin (TF) subtypes was determined by isoelectric focusing of sera from 284 unrelated individuals from Tarragona (south of Catalonia). The allele frequencies observed, TF*C1 = 0.805, TF*C2 = 0.162, TF*C3 = 0.026 and TF*B = 0.007 were similar to those reported for other Spanish populations.     

Visual afferences to flight steering muscles controlling optomotor responses of the fly

Summary In tethered flying house-flies (Musca domestica) visually induced turning reactions were monitored under open-loop conditions simultaneously with the spike activity of four types of steering muscles (M.b1, M.b2, M.I1, M.III1). Specific behavioral response components are attributed to the activity of particular muscles. Compensatory optomotor turning reactions to large-field image displacements mainly occur when the stimulus pattern oscillates at low frequencies. In contrast, turning responses towards objects are preferentially induced by motion of relatively small stimuli at high oscillation frequencies. The different steering muscles seem to be functionally specialized in that they contribute to the control of these behavioral responses in different ways. The muscles I1, III1 and b2 are preferentially active during small-field motion at high oscillation frequencies. They are much less active during small-field motion at low oscillation frequencies and large-field motion at all oscillation frequencies which were tested. M.b2 is most extreme in this respect. These steering muscles thus mediate mainly turns towards objects. In contrast, M.b1 responds best during large-field motion at low oscillation frequencies and, thus, is appropriate to control compensatory optomotor responses. However, the activity of this muscle is also strongly modulated during small-field motion at high oscillation frequencies and, therefore, may be involved also in the control of turns towards objects. These functional specializations of the different steering muscles in mediating different behavioral response components are related to the properties of two parallel visual pathways that are selectively tuned to large-field and small-field motion, respectively.Abbreviations FD (cell) figure detection (cell) - HS (cell) horizontal (cell)     

HLA phenotype and haplotype frequencies in the Cantabria (middle north Spain) population.

The gene and haplotype frequencies of the HLA-A and -B locus antigens were determined in 502 unrelated individuals from Cantabria (middle North Spain). Our results were compared with those reported for other European and Spanish populations. The haplotypes with significant linkage disequilibrium were also analyzed in various Spanish population samples in order to establish possible relationships with geographic situation and historical events.     

Rad51C-deficient CL-V4B cells exhibit normal levels of mitomycin C-induced SCEs but reduced levels of UVC-induced SCEs

The mechanisms of sister chromatid exchanges (SCEs) are not known. One hypothesis is that SCE is a manifestation of Rad51-dependent homologous recombination repair. In order to test this hypothesis, we have compared the frequencies of SCEs induced by mitomycin C (MMC) and 254nm ultraviolet radiation (UVC) in wt V79B and the Rad51C-deficient CL-V4B cells. SCEs were analysed in the first (M1) and second (M2) post-treatment mitoses. In M1 MMC induced the same frequencies of SCEs in CL-V4B and V79B cells, while the UVC-induced SCE frequencies were lower in CL-V4B than V79B cells. In CL-V4B cells, MMC-induced SCEs were higher in M2 than in M1, suggesting that interstrand cross-links (ICL) are either not removed completely or are transformed into another form of DNA damage that persists until the next cell cycle. We suggest that SCEs may represent a mechanism to bypass MMC-induced ICL without their removal.     

Acyl coenzyme A synthetase long-chain 1 (ACSL1) gene polymorphism (rs6552828) and elite endurance athletic status: a replication study

The aim of this study was to determine the association between the rs6552828 polymorphism in acyl coenzyme A synthetase (ACSL1) and elite endurance athletic status. We studied 82 Caucasian (Spanish) World/Olympic-class endurance male athletes, and a group of sex and ethnically matched healthy young adults (controls, n=197). The analyses were replicated in a cohort of a different ethnic origin (Chinese of the Han ethnic group), composed of elite endurance athletes (runners) [cases, n=241 (128 male)] and healthy sedentary adults [controls, n=504 (267 male)]. In the Spanish cohort, genotype (P=0.591) and minor allele (A) frequencies were similar in cases and controls (P=0.978). In the Chinese cohort, genotype (P=0.973) and minor allele (G) frequencies were comparable in female endurance athletes and sedentary controls (P=0.881), whereas in males the frequency of the G allele was higher in endurance athletes (0.40) compared with their controls (0.32, P=0.040). The odds ratio (95%CI) for an elite endurance Chinese athlete to carry the G allele compared with ethnically matched controls was 1.381 (1.015-1.880) (P-value=0.04). Our findings suggest that the ACSL1 gene polymorphism rs6552828 is not associated with elite endurance athletic status in Caucasians, yet a marginal association seems to exist for the Chinese (Han) male population.     

PPARGC1A genotype (Gly482Ser) predicts exceptional endurance capacity in European men.

Animal and human data indicate a role for the peroxisome proliferator-activated receptor-gamma coactivator 1alpha (PPARGC1A) gene product in the development of maximal oxygen uptake (V(O2 max)), a determinant of endurance capacity, diabetes, and early death. We tested the hypothesis that the frequency of the minor Ser482 allele at the PPARGC1A locus is lower in World-class Spanish male endurance athletes (cases) [n = 104; mean (SD) age: 26.8 (3.8) yr] than in unfit United Kingdom (UK) Caucasian male controls [n = 100; mean (SD) age: 49.3 (8.1) yr]. In cases and controls, the Gly482Ser genotype met Hardy-Weinberg expectations (P > 0.05 in both groups tested separately). Cases had significantly higher V(O2 max) [73.4 (5.7) vs. 29.4 ml x kg(-1) x min(-1) (3.8); P < 0.0001] and were leaner [body mass index: 20.6 (1.5) vs. 27.6 kg/m2 (3.9); P < 0.0001] than controls. In unadjusted chi2 analyses, the frequency of the minor Ser482 allele was significantly lower in cases than in controls (29.1 vs. 40.0%; P = 0.01). To assess the possibility that genetic stratification could confound these observations, we also compared Gly482Ser genotype frequencies in Spanish (n = 164) and UK Caucasian men (n = 381) who were unselected for their level of fitness. In these analyses, Ser482 allele frequencies were very similar (36.9% in Spanish vs. 37.5% in UK Caucasians, P = 0.83), suggesting that confounding by genetic stratification is unlikely to explain the association between Gly482Ser genotype and endurance capacity. In summary, our data indicate a role for the Gly482Ser genotype in determining aerobic fitness. This finding has relevance from the perspective of physical performance, but it may also be informative for the targeted prevention of diseases associated with low fitness such as Type 2 diabetes.     

Genetic markers in the blood of Spanish goat breeds

Biochemical variation of four genetic markers (Hb, Al, Tf, 'X' protein) in the blood of four Spanish goat breeds was analysed with starch gel electrophoresis. The frequencies at all of these loci have been calculated for the Spanish goats and compared with some of the goat breeds studied so far by other authors.     

Inbreeding in Southeastern Spain

In this paper, the structure of a southeastern Spanish population was studied for the first time with respect to its inbreeding patterns and its relationship with demographic and geographic factors. Data on consanguineous marriages (up to second cousins) from 1900 to 1969 were taken from ecclesiastic dispensations. Our results confirm that the patterns and trends of inbreeding in the study area are consistent with those previously observed in most non-Cantabrian Spanish populations. The rate of consanguineous marriages was apparently stable between 1900 and 1935 and then sharply decreased since 1940, which coincides with industrialization in Spain. A marked departure from Hardy-Weinberg expectations (0.25) in the ratio of first cousin (M22) to second cousin (M33) marriages in the study population (0.88) was observed. The high levels of endogamy (>80%) and its significant steadiness throughout the twentieth century is noteworthy. Accordingly, our results show that exogamous marriages were not only poorly represented but also that this reduced mobility (<6 km) suggests that the choice of a mate was preferentially local. We found higher mobility in M22 with respect to M33 cousin mating. The relationships between population size and consanguinity rates and inbreeding fit power-law distributions. A significant positive correlation was observed between inbreeding and elevation. Many Spanish populations have experienced a prolonged and considerable isolation across generations, which has led to high proportions of historical and local endogamy that is associated, in general, with high \( \overline{F} \) values. Thus, assessing genomic inbreeding using runs of homozygosity (ROH) in current Spanish populations could be an additional pertinent strategy for obtaining a more refined perspective regarding the population history inferred from the extent and frequency of ROH regions.     

Mutant allele frequencies in domestic cat populations on the Spanish Mediterranean coast,and their genetic distances from other European and North African cat populations

New genetic profiles of domestic cat populations were studied in different parts of the Spanish Mediterranean coast. The t ^b frequency is the most outstanding differentiated factor between the populations analyzed. The low t ^b frequencies found in Barcelona and other Catalan localities are the most important characteristic of these populations and, probably, find an explanation in the extraordinarily high historical and commercial relationships between Barcelona and the Eastern Mediterranean (Greece, especially) during the 14th and 15th centuries. In other Spanish Mediterranean littoral cities the t ^b frequencies reach higher values and are more similar to those found in other Western European cat populations. Significant differences found in certain allelic frequencies (Orange and Blotched) caused by the urban-rural effect are discovered between Barcelona and two nearby rural cat populations.     

ACE and LRPAP1 insertion-deletion polymorphisms in a northern Ivory Coast population

The ACE and the LRPAP1 gene insertion-deletion polymorphisms were determined in 133 healthy individuals sampled from Ouangolodougou, a village located in northern Ivory Coast. No sex differences were found in ACE and LRPAP1 gene frequencies. The ACE insertion and deletion alleles had frequencies of 0.346 and 0.654, respectively. The ACE gene was not in Hardy-Weinberg equilibrium because of an excess of heterozygote genotypes and a deficiency of I/I genotypes compared to the expected values. Statistical analysis showed a significantly lower frequency of I/I genotypes in the Ivory Coast population compared to Sudan, Kenya, African Americans, and African Brazilians (p < 0.05), whereas no differences were found with respect to Somalia. Conversely, the frequencies of the insertion and deletion alleles in the Ivorian population did not differ from those of other African populations. The LRPAP1 insertion and deletion allele frequencies found in our study (0.192 and 0.808, respectively) did not differ significantly from the Czech and Spanish populations, the only two populations previously characterized for this polymorphism. However, the frequency of the I/I genotype was significantly lower than the frequencies observed in the European samples. Because of the limited information on the LRPAP1 gene polymorphism distribution in worldwide populations, it was not possible to draw any conclusion.     

Frequency of sister-chromatid exchanges depending on the amount of 5-bromodeoxyuridine incorporated into parental DNA

Chinese hamster D-6 cells were grown for two cell cycles. The effect of 5-bromodeoxyuridine (BrdU) on the frequencies of sister-chromatid exchanges (SCEs) in these cells was investigated by the BrdU-labeling method. A low concentration (5 μM) of BrdU was inoculated in the first cell cycle for SCE counting. When excess concentrations (100–1000 μM) of BrdU were added subsequently in the second cell cycle, a 1–2-fold increase of SCE frequencies was observed. When excess thymidine (dT) (100–1000 μM) was supplied instead of BrdU, the incidence of SCE also increased. When cells were exposed to high concentrations (50–200 μM) of BrdU in the first cell cycle, a 1–4-fold increase in SCE frequencies was observed. This incidence of SCE was largely dependent on the concentration of BrdU and dT used in the second cell cycle. These results suggest that efficient SCE induction by BrdU is related to the BrdU residue incorporated into parental DNA strands.     

Las Alpujarras region (South East Spain) HLA genes study: evidence of a probable success of 17th century repopulation from North Spain

Conquest of Granada Muslim Kingdom (1492 AD) finished with Muslim occupation; they were mostly North African Berbers who had reached Iberia by 711 AD. A politics of Iberian Christianization followed after this date: Jewish were expelled in 1492 and Moriscos (Spaniards practicing Muslim religion or speaking Arab) were expelled from all Spanish territory on 1609 AD. Las Alpujarras is a southern Spain mountainous secluded region, which underwent a repopulation from North Spain and a specific Muslim (Moriscos)–Christian war took place according to historical records. Both Las Alpujarras repopulation by northern Iberians and Moriscos expulsion success have been debated and are regarded as non-clarified episodes. In this study, we have addressed the question whether the repopulation succeeded by determining HLA genes of present day Las Alpujarras inhabitants and compared with those of other Mediterranean populations HLA frequencies and genealogies. HLA frequencies show ambiguous results because of extant HLA similar gene frequencies there exist in North Africa and Spain. This is reflected by the finding of North and South western Mediterraneans close relatedness of HLA dendrograms and correspondence analyses. However, the genealogical study of extended HLA haplotypes particularly Alpujarran high frequency of HLA-A29-B44-DRB1*0701-DQA1*02-DQB1*02 (not found in Algerians but frequent in North and Central Spain) and Alpujarran low frequency extended haplotype HLA-A3-B7-DRB1*1501-DQA1*0102-DQB1*0602 (frequent in North Europe) reveals that a significant HLA gene flow from North Spain is observed in present day Alpujarrans: both haplotypes are characteristic of North Spain and North Europe, respectively. This may indicate that enforced Alpujarran repopulation from North Spain may have been a success, which was started by Spanish King Philip II in 1571 AD.