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Blood specimens from 134 Oraon, a Dravidian-speaking tribe in Bihar, India, have been tested for haptoglobin, transferrin, ceruloplasmin, phosphoglucomutase, lactate dehydrogenase, albumin, and malate dehydrogenase types by starch gel electrophoresis. Low Hp1 and high TfD gene frequencies emerge.
Blood donor specimens from South-west Scotland were analysed for the following polymorphisms: ABO, Rhesus (D), Haptoglobin, Transferrin, Immunoglobulin (GM), RBC acid phophatase, RBC phosphoglucomutase and RBC adenylate kinase. Genetic differences exist between the regions in S.W. Scotland and between S.W. Scotland and other Irish and Irish Sea regions. This variability is detailed and discussed. The results are mapped by converting the data into distance values and by using a nonmetrical scaling technique. Overall the present S.W. Scotland data are similar to Cumbrian and Manx results and dissimilar to the Irish data.
During the Australian/British IBP studies on KarKar Island and at Lufa in the Eastern Highlands, Papua New Guinea, information was collected on the epidemiology and genetic constitution of the same subjects. Advantage of this special situation has been taken to determine whether any associations exist between the genetic markers and the disease states. Those found and which appear real include Rhesus D(u) with proteinuria; MN with splenomegaly and hepatomegaly; Ss with parotid enlargement; acid phosphatase, glucose-6-phosphate dehydrogenase, 6-phosphogluconate dehydrogense and haemoglobin J- Tongariki with presence of malarial parasites; phosphoglucomutase with proteinuria and parotid enlargement; haptoglobin with proteinuria and with splenomegaly and hepatomegaly. These associations are discussed in terms of the probabilities of their arising from heterogeneity in population structure, linkage disequilibrium and pleiotropy.
A sample of the Isle of Man population was tested for the following red cell antigens, serum proteins and red cell enzymes: ABH; MNSs He; Cc CwD Du Ee Ce; K k Kpa Kpb; Lua; P1; Fya Fyb; haptoglobin; transferrin; Ag; acid phosphatase; phosphoglucomutase; adenylate kinase; esterase D; adenosine deaminase and 6-phosphogluconate dehydrogenase. The study comprised 219 blood donors, 338 secondary school children and 116 females attending the only antenatal clinic. The results were studied for intra-island variation and for their their relationship with other Irish Sea Basin populations. The total sample results were compared with data for England, Cumbria, Eire, Northern Ireland, S.W. Scotland and Wales using a genetic distance measure.
Data are presented on the red cell acid phosphatase (ACP), phosphoglucomutase (PGM1), and adenylate kinase (AK) iso-enzyme distributions in a sample of gypsies (Roms) from Slovakia (Czechoslovakia). The findings of very low Pa (0.289) and PGM11 (0.656) gene frequencies as well as the complete absence of the Pc gene are in accordance with the generally accepted assumption of the Indian origin of European gypsies, and demonstrate that the rate of European admixture in Slovak gypsies is low. The finding of a very high AK1 gene frequency (0.984), on the other hand, contradicts this assumption, but with the limited available data on the iso-enzyme distribution in other gypsy and in Indian populations it cannot readily be explained.
A study was conducted to determine the distribution of phenotypes and gene frequencies of haptoglobin, phosphoglucomutase 1, esterase D, 6-phosphogluconate dehydrogenase and three monomorphic systems SOD, sMDH and NADH DIA I. Results obtained from two Basque regions and León were compared with those from other Spanish populations. Gene frequencies observed in the León sample were similar to those obtained from the other Spanish samples. The Basque samples differed from the other Spanish populations in the gene frequencies of esterase D.
Allele frequencies are presented for subtypes of phosphoglucomutase locus 1 and the group-specific component (Gc) in samples from a number of human populations. Compared with each other and with published data, continental samples are very similar in gene frequency to their reported distributions in the literature, but the small island populations are much more variable.
Haptoglobin, phosphoglucomutase 1 and 6-phosphogluconate dehydrogenase gene frequencies have been found for some Castillian provinces. The NADH diaphorase I, superoxide dismutase, lactate dehydrogenase, soluble oxaloacetate transaminase, soluble malate dehydrogenase, carbonic anhydrase I and carbonic anhydrase II are non-polymorphic red cell enzymes in Caucasoids and we have verified this in Castillian samples.
Phosphoglucomutase (PGM) is a ubiquitous highly conserved enzyme involved in carbohydrate metabolism. A number of recently discovered PGM-like proteins in a variety of organisms have been proposed to function in processes other than metabolism. In addition, sequence analysis suggests that several of these may lack PGM enzymatic activity. The best studied PGM-like protein is parafusin, a major phosphoprotein in the ciliate Paramecium tetraurelia that undergoes rapid and massive dephosphorylation when cells undergo synchronous exocytosis of their dense-core secretory granules. Indirect genetic and biochemical evidence also supports a role in regulated exocytotic membrane fusion. To examine this matter directly, we have identified and cloned the parafusin homologue in Tetrahymena thermophila, a ciliate in which protein function can be studied in vivo. The unique T. thermophila gene, called PGM1, encodes a protein that is closely related to parafusin by sequence and by characteristic post-translational modifications. Comparison of deduced protein sequences, taking advantage of the known atomic structure of rabbit muscle PGM, suggests that both ciliate enzymes and all other PGM-like proteins have PGM activity. We evaluated the activity and function of PGM1 through gene disruption. Surprisingly, DeltaPGM1 cells displayed no detectable defect in exocytosis, but showed a dramatic decrease in PGM activity. Both our results, and reinterpretation of previous data, suggest that any potential role for PGM-like proteins in regulated exocytosis is unlikely to precede membrane fusion.
In an effort to determine the subcellular localization of sodium- and potassium-activated adenosine triphosphatase (Na(+), K(+)-ATPase) in the pseudobranch of the pinfish Lagodon rhomboides, this tissue was fractionated by differential centrifugation and the activities of several marker enzymes in the fractions were measured. Cytochrome c oxidase was found primarily in the mitochondrial-light mitochondrial (M+L) fraction. Phosphoglucomutase appeared almost exclusively in the soluble (S) fraction. Monoamine oxidase was concentrated in the nuclear (N) fraction, with a significant amount also in the microsomal (P) fraction but little in M+L or S. Na(+), K(+)-ATPase and ouabain insensitive Mg(2+)-ATPase were distributed in N, M+L, and P, the former having its highest specific activity in P and the latter in M+L. Rate sedimentation analysis of the M+L fraction indicated that cytochrome c oxidase and Mg(2+)-ATPase were associated with a rapidly sedimenting particle population (presumably mitochondria), while Na(+), K(+)-ATPase was found primarily in a slowly sedimenting component. At least 75% of the Na(+), K(+)-ATPase in M+L appeared to be associated with structures containing no Mg(2+)-ATPase. Kinetic properties of the two ATPases were studied in the P fraction and were typical of these enzymes in other tissues. Na(+), K(+)-ATPase activity was highly dependent on the ratio of Na(+) and K(+) concentrations but independent of absolute concentrations over at least a fourfold range.
A procedure has been developed to phenotype eight erythrocytic enzymes, phosphoglucomutase (PGM1), adenylate kinase (AK), 6-phosphogluconate dehydrogenase (6PGD), adenosine deaminase (ADA), glyoxalase (GLO), esterase-D (EsD), acid phosphatase (AcP), and glutamic pyruvate transaminase (GPT) in one acrylamide gel and also to detect the presence of common abnormal hemoglobins. The agar overlay technic has been eliminated. This simplified procedure renders the phenotyping of erythrocytic enzymes practical in paternity testing.
A method for isoelectric focusing of phosphoglucomutase (PGM1) using agarose was found to have significant advantages over published acrylamide technics. Gene frequencies determined on samples from 1,780 Minnesota Caucasians were PGM1(1+) = 0.6118, PGM1(1-) = 0.1441, PGM1(2+) = 0.1910, PGM1(2-) = 0.0531. The use of the isoelectric focusing technics in 700 cases of disputed parentage resulted in an exclusion rate slightly in excess of the calculated probability of exclusion (P value) of 27%.. In addition, the proportions of direct exclusions was increased from 485 observed with the conventional starch technic to 75% with IEF.
Male mating success as a function of genotype is an important fitness component. It can be studied in wild populations, in species for which a given group of progeny has exactly one father, by determining genotypes of wildcaught mothers and of sufficient numbers of their progeny. Here, we study male mating success as a function of allozyme genotype at two glycolytic loci in Colias butterflies, in which sperm precedence is complete, so that the most recent male to mate fathers all of a female's subsequent progeny.--For the phosphoglucose isomerase, PGI, polymorphism, we predict mating advantage and disadvantage of male genotypes based on evaluation of their biochemical functional differences in the context of thermal-physiological-ecological constraints on the insects' flight activity. As predicted, we find major, significant advantage in mating success for kinetically favored genotypes, compared to the genotype distribution of males active with the sampled females in the wild. These effects are repeatable among samples and on different semispecies' genetic backgrounds.--Initial study of the phosphoglucomutase, PGM, polymorphism in the same samples reveals heterozygote advantage in male-mating success, compared to males active with the females sampled. This contrasts with a lack of correspondence between PGI and PGM genotypes in other fitness index or component differences.--Epistatic interactions in mating success between the two loci are absent.--There is no evidence for segregation distortion associated with the alleles of either primary locus studied, nor is there significant assortative mating.--These results extend our understanding of the specific variation studied and suggest that even loci closely related in function may have distinctive experience of evolutionary forces. Implications of the specificity of the effects seen are briefly discussed.
The polymorphic phosphoglucomutase (PGM) and glucose-6-phosphate dehydrogenase (G6PD) loci have been studied in parallel to experimental work on the phosphoglucose isomerase (PGI) polymorphism in Colias butterflies. PGI, PGM and G6PD are also autosomal in Colias. PGM and G6PD are loosely linked (and represent the first identified autosomal linkage group in Colias); they assort independently from PGI. Recombination occurs in both sexes. Neither PGM nor G6PD shows large, consistent differences in flight capacity through the day among its genotypes, as PGI does. PGM shows some change of allele frequencies, and match to Hardy-Weinberg expectation, with air temperature in middle and latter parts of the season, but not early in the season. G6PD may show some heterozygote excess over Hardy-Weinberg expectation early in the day, but more testing is needed. No evidence for differential survivorship was seen at PGM or G6PD, in contrast to PGI. At the PGM and G6PD loci, male heterozygotes are advantaged in mating with females, but without the evidence of female choice which occurs for PGI. These effects are not correlated among the three loci. There is no assortative mating at G6PD (nor at PGI). There is minor positive assortative mating of PGM heterozygotes, but it is too weak to account for the PGM-genotype-specific male mating advantage. No trends of multilocus genotype frequencies involving PGI are seen. Certain PGM-G6PD two-locus genotypes are over-represented, and others under-represented, in wild adult samples, particularly among males and uniformly among successfully mating males. Our results emphasize that enzyme loci sharing a substrate need not have common experience of the existence or strength of natural selection, and suggest initial food-resource processing and allocation as a possible context for fitness-related effects of the PGM and G6PD polymorphisms.
Clinal variation is common for enzymes in the glycolytic pathway for Drosophila melanogaster and is generally accepted as an adaptive response to different climates. Although the enzyme phosphoglucomutase (PGM) possesses several allozyme polymorphisms, it is unique in that it had been reported to show no clinal variation. Our recent DNA sequence investigation of Pgm found extensive cryptic amino acid polymorphism segregating with the allozyme alleles. In this study, we characterize the geographic variation of Pgm amino acid polymorphisms at the nucleotide level along a latitudinal cline in the eastern United States. A survey of 15 SNPs across the Pgm gene finds significant clinal differentiation for the allozyme polymorphisms as well as for many of the cryptic amino acid polymorphisms. A test of independence shows that pervasive linkage disequilibrium across this gene region can explain many of the amino acid clines. A single Pgm haplotype defined by two amino acid polymorphisms shows the strongest correlation with latitude and the steepest change in allele frequency across the cline. We propose that clinal selection at Pgm may in part explain the extensive amino acid polymorphism at this locus and is consistent with a multilocus response to selection in the glycolytic pathway.
The Standard and Sex Ratio gene arrangements of the X chromosome of D. pseudobscura differ from each other in allele frequencies at the four X chromosome loci, esterase-5, adult acid phosphatase-6, phosphoglucomutase-1 and octanol dehydrogenase-3. The Standard arrangement which is the common arrangement in all populations is polymorphic at these loci in varying degrees, the geographically less widespread Sex Ratio arrangement has little polymorphism and is genically predominantly E-5(1.04) AP-6(-) Pgm1(1.0) ODH-3(1.0). The Sex Ratio arrangement from different populations is alike at all of the four loci, the Standard arrangement shows some gene frequency differences among populations. The Standard and Sex Ratio arrangements differ from each other by three inversions which suggests that the two arrangements are "old". Gene differences between these two chromosome arrangements can be explained due to differential natural selection of alleles in the Standard and Sex Ratio arrangments.-The order and percent recombination among these four loci in the Standard arrangement are: E-5-.294-AP-6-.335-Pgm-1-.024-ODH-3. The Standard X chromosomes from four different wild populations were analyzed for evidence of linkage disequilibrium between pairs of loci at these four loci. No evidence of linkage disequilibrium between pairs of loci was obtained. However, when linkages involving simultaneously three loci, E-5, AP-6 and Pgm-1 are considered, then significant departure from linkage equilibrium is observed.
The dynamical behavior of chromosomal segments undergoing strong selection was investigated in four replicate populations of Drosophila melanogaster. This was accomplished by following the joint behavior of allozyme markers at the loci phosphoglucomutase and esterase C, adjacent to the recessive lethal locus Glued, during and following the course of selection against Glued. The results show strong selection at other loci in the region of the marked segment. Examination of the joint dynamic of the two markers indicates that there must be more than one, and probably several, selected loci in the region under observation, with large epistatic effects. The mode of selection on the segment often results in excess heterozygosity at the markers, but does not appear to be constant in time. It is concluded that the density of selective effects in the region under study is substantial.
Analysis of 71 strains of Neisseriaceae by starch-gel electrophoresis of hexokinase, phosphoglucomutase, glucose phosphate isomerase, and L-malate-nicotinamide adenine dinucleotide phosphate oxidoreductase showed that all gonococci and all memingococci have a characteristic hexokinase isoenzyme that is specific for each species and clearly distinguishes meningococci and gonococci from each other and from other species of Neisseriaceae. Strains of gonococci that were transformed into maltose utilizers by DNA from Neisseria lactamica and Neisseria meningitidis showed no change in the isoenzymes so that they could still be differentiated from meningococci and other Neisseriaceae by isoenzyme electrophoresis. In view of the limited sensitivity and specificity of conventional tests for the identification of gonococci and the possibility that gonococci may be transformed into maltose utilizers by DNA from normal throat flora, electrophoresis of hexokinase isoenzymes should be useful for the precise laboratory identification of the pathogenic neisseriae, especially those from atypical sites and those giving indeterminate reactions.