Glyoxalase 1 (GLO) in the chicken: Genetic variation and lack of linkage to the MHC

Electrophoretic variation of glyoxalase 1 (GLO) has been detected in chicken red-cell lysates. Three phenotypes are shown to be inherited through a diallelic system, just as in humans and mice. The chicken GLO phenotypes differ from their mammalian counterparts in that one of the homozygotes is devoid of GLO activity. The heterozygote produces two bands, while the other homozygote yields a single band of GLO activity with mobility equal to the faster of these two bands. In noninbred White Leghorn birds, the GLO ^*2 allele occurred significantly more often in birds homozygous for the B ^*1 allele at the chicken MHC than in those homozygous for B ^*19, suggesting that the products of these loci may have population associations in the chicken. Absence of close linkage between the GLO and B loci was, however, demonstrated by appropriate test crosses.     

On the population genetics of the red cell glyoxalase I (GLO)

Summary The GLO phenotype distribution was studied in the population from the Rostock area (n=233). The gene frequencies of GLO alleles were estimated to be GLO¹=0.4249, GLO²=0.5751. The electrophoretic separation was achieved on horizontal starch gel.     

Rapid detection of glyoxalase I (GLO) on cellulose acetate gel and the distribution of GLO variants in a Dutch population

Summary A rapid electrophoretic procedure is described for detecting the human red cell glyoxalase I variants (GLO 1, GLO 2-1, and GLO 2) on cellulose acetate gel (cellogel) on which the sites of enzymed activity are visualized as purple bands against white background. The frequency of GLO ¹ gene in a Dutch population living in and around Leiden was found to be 0.4544.     

Erythrocyte glyoxalase I polymorphism in the owl monkey,Aotus

Three erythrocyte glyoxalase I phenotypes were observed in a sample of 235 karyotypically defined New World owl monkeys, Aotus. The selective distribution of glyoxalase I allele (GLO¹, GLO²) is related to the karyotype of each animal. Owl monkeys with a karyotype VI had an equal distribution of GLO¹ and GLO² genes in the population. Aotus with karyotype II, III, IV, or V had, exclusively, the GLO² allele (expressed as the fast electrophoretic phenotype), in contrast with monkeys with karyotype I or VII, which had only the GLO¹ allele (expressed as the slow electrophoretic phenotype).     

Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis

Summary We describe a genetic polymorphism of cytosol polypeptide with mol.wt. of 20,000 detected in lymphocytes the arythrocytes by two-dimensional gel electrophoresis. Three different electrophoretic phenotypes (type 1-1, 2-1, and 2-2) of the polypeptide have been identified in a Japanese population. Family studies indicate that the phenotypes are determined by two common alleles at a single autosomal locus. The polypeptide is present in the cytosol of various kinds of cells and is abundant in erythrocytes. The data on a gel filtration of the erythrocyte cytosol proteins on a Sephadex G-100 column suggest that the polypeptide exists as a dimer in cells. In nine out of 79 individuals, the phenotypes of the polypeptide were different from those of glyoxalase 1 (GLO1) which has similar properties in subunit size, cell distribution, and allele frequencies. These date indicate that the polypeptide with mol. wt. of 20,000 is a new polymorphic cellular polypeptide. We propose that the polypeptide be temporarily designated as cytosol polypeptide with mol. wt. of 20,000 (CP20) and that the gene for CP20 be designated as CP20. The gene frequencies of two common alleles (CP20 ¹ and CP20 ²) are 0.955 and 0.045, respectively, in a Japanese population.     

Evidence for a ‘silent allele’ GLO 0 at the glyoxalase I locus

Summary In a three-generation family, the segregation of an apparent silent allele at the GLO I locus in association with the rare HLA haplotype AW30-CW4-BW35 was observed in four members. In two cases the assumption of homozygosity at the GLO locus would lead to mother-child exclusions. Phenotypically, the GLO activity in the GLO ⁰ carriers is clearly diminished.With rechnical assistance of Mrs. C. Walter and Mrs. M. MuellerSupported by the Deutsche Forschungsgemeinschaft (Ri 164/12)     

Gene diversity in Indian populations

Summary The phenotypes of glyoxalase I (GLO) were determined in a random population from Hessen (Germany) by high-voltage agarose gel electrophoresis. The gene frequencies in 1150 unrelated individuals were 0.4391 for GLO¹ and 0.5609 for GLO². Rare phenotypes were not observed. The segregation of phenotypes in 50 families and 32 mother-child combinations supports the assumed autosomal codominant inheritance. The possibility of a simultaneous typing for GLO, esterase D (EsD), and carbonic anhydrase₂ (CA₂) on one gel is discussed.     

Localization of the human GLO gene locus

Summary Data on the linkage relation between the GLO locus and the HLA, Bf, and PGM ₃ loci are presented. The family material includes 49 GLO/HLA-B (and/or Bf) segregating matings with 134 children informative on 199 parental meioses. Of phase-known meioses, 3 are recombinants and 75 nonrecombinants; linkage is therefore proven. From the total material a distance of 2.5 cM between GLO and HLA-B/Bf is calculated; and from the segregation in some informative family groups it is shown that GLO is situated between PGM ₃ and HLA-B/Bf.     

Genetic Polymorphism of the Blood Groups and Erythrocytic Enzymes in Three Ethnic Territorial Groups from the North of European Russia

Using the data on five red cell markers (AB0, PGM1, ACP1, GLO1, and ESD) polymorphisms, the population genetic structure of three ethnic territorial groups from the north of European Russia (Continental Nentsy, Kola Saami, and Russian Coast-dwellers) was described. In general, the groups studied a Caucasoid pattern of the frequency distribution of erythrocytic marker alleles. However, a substantial contribution of a Mongoloid component to the Nenets gene pool, expressed as a high frequency of the PGM1*1allele along with a low frequency of the GLO1*1allele, was observed. Three ethnic territorial groups examined were close to one another with respect to the distribution of classical biochemical markers. The interpopulation diversity was low (the mean F _ST= 0.015). The differences observed were for the most part caused by the genetic characteristics of Nentsy. The maximum interpopulation diversity was observed for the GLO1*locus (F _ST= 0.056).     

Chinook salmon NADP+-dependent cytosolic isocitrate dehydrogenase: Electrophoretic and genetic dissection of a complex isozyme system and geographic patterns of variation

Species in the genus Oncorhynchus express complicated isocitrate dehydrogenase (IDHP) isozyme patterns in many tissues. Subcellular localization experiments show that the electrophoretically distinct isozymes of low anodal mobility expressed predominantly in skeletal and heart muscle are mitochondrial forms (mIDHP), while the more anodal, complex isolocus isozyme system predominant in liver and eye is cytosolic (sIDHP). The two loci encoding sIDHP isozymes are considered isoloci because the most common allele at one of these loci cannot be separated electrophoretically from the most common allele of the other. Over 12 electrophoretically detectable alleles are segregating at the two sIDHP* loci in chinook salmon. Careful electrophoretic comparisons of the sIDHP isozyme patterns of muscle, eye, and liver extracts of heterozygotes reveal marked differences between the tissues with regard to both relative isozyme staining and the expression of several common alleles. Presumed single-dose heterozygotes at the sIDHP isolocus isozyme system exhibit approximate 9:6:1 ratios of staining intensity in liver and eye, while they exhibit approximate 1:2:1 ratios in skeletal muscle. The former proportions are consistent with the equal expression of two loci (isolocus expression), while the latter are consistent with the expression of a single locus. Screening of over 10,000 fish from spawning populations and mixed-stock fishery samples revealed that certain variant alleles (*127, *50) are detectable only in liver and eye, while other alleles (*129, *94, and *74) are strongly expressed in muscle, eye, and liver. The simplest explanation for these observations is that the "isolocus" sIDHP system of chinook salmon (and that of steelhead and rainbow trout) results from the expression of two distinct loci (sIDHP-1* and sIDHP-2*) that have the same common allele (as defined by electrophoretic mobility). IDHP expression in skeletal muscle is due to the nearly exclusive expression of the sIDHP-1* locus, while IDHP expression in eye and liver tissues is due to high levels of expression of both sIDHP-1* and sIDHP-2*--giving rise to the isolocus situation in these latter tissues. Direct inheritance studies confirm this model of two genetically independent (disomic) loci encoding sIDHP in chinook salmon. Extensive geographic surveys of chinook salmon populations from California to British Columbia reveal marked differences in allele frequencies at both sIDHP-1* and sIDHP-2* and considerably more interpopulation differentiation than was recognized previously when sIDHP was treated as an isolocus system with only five recognized alleles.(ABSTRACT TRUNCATED AT 400 WORDS)     

Genetic variability inCebus appella paraguayanus: Biochemical analysis of seven loci and variation in Glyoxalase I (E.C.4.4.1.5)

An analysis of seven loci inCebus apella paraguayanus showed that Glyoxalase I was polymorphic due the appearance of two alleles (GLO*2 andGLO*3) with frequencies of 0.955 and 0.045, respectively. Of the two alleles,GLO*2 was electrophoretically similar to the most common allele found in the human andAotus. These results confirmed our previous findings in the same population sample showing that this subspecies has a very low genetic variation among New World primates.     

Polymorphism of red cell glyoxalase I (EI: 4.4.1.5); a new genetic marker in man. Investigation of 169 mother-child combinations.

The polymorphism of glyoxalase I was investigated in 169 mother-child combinations from southwestern Germany. Glyoxalase I (GLO) has 3 common phenotypes: GLO 1, GLO 2-1, and GLO 2. The results are in good agreement with the formal hypothesis: Two alleles GLO1 and GLO2 at an autosomal locus. The GLO1 gene frequency was estimated to be 0.39. From the electrophoretic pattern the GLO-molecule appears to consist of two subunits.     

Glyoxalase I polymorphism in South African Bantu-speaking Negroids

Summary The newly described genetic polymorphism of glyoxalase I (GLO) is studied in seven ethnically defined Negroid samples from South Africa (total: n=843). The allele frequencies between the different Negroid samples studied vary only marginally. However, the allele frequency of GLO¹ for the South African Negroid samples combined (i.e., p=0.259), is highly significantly lower than that for Caucasoid samples.Supported by the Deutsche Forschungsgemeinschaft (DFG), Bonn-Bad GodesbergSupported by a research fellowship (1975/76) awarded by the Alexander-von-Humboldt-Stiftung, Bonn-Bad Godesberg     

Biophysical characterization of peyer’s patch lymphocytes in the B-cell deficient CBA/N mice and in their F1 hybrids

CBA/N mice bear an X-linked immunodeficiency involving abnormalities of their B lymphocytes. We investigated the electrophoretic mobility (EPM) distribution and the electronic volume of the Peyer's patch (PP) cells of these mice in comparison with those of the immunologically normal CBA/J mice. The same studies were also carried out on PP cells from the CBA/N×DBA/2 (CND2) F1 hybrid males and females that are, respectively, B-cell defective and normal. In all types of mice, PP cells could be separated by free-flow electrophoresis into a low-mobility (LM) population corresponding mainly to B cells and high-mobility (HM) population containing mostly T cells. However, while in the control mice LM (B) cells accounted for around 60–67% of PP lymphocytes, this population did not exceed 40% in the defective animals. Furthermore, LM (B) cells, but not HM (T) cells, of CBA/N and CND2 male mice were found to display abnormal physical characteristics. Thus, they possessed a higher anodic EPM (two electrophoretic fractions faster) and a slightly larger model size (134 μm³) than normal adult B cells (122–124 μm³). Similar differences were observed with PP lymphocyte preparations enriched for B cells by nylon wool adherence. These data suggest that CBA/N mice and their defective hybrids lack a population of small B lymphocytes with low anodic EPM.     

Separation of T and B lymphocytes from various mouse strains by density gradient electrophoresis

T and B mouse spleen lymphocytes were separated by density gradient electrophoresis on the basis of their surface charge. In all strains examined, the T lymphocytes were found in the high mobility fractions and the B in the low. The T and B cells were separated completely in most fractions, with some overlapping in the middle. Significant differences were found in the electrophoretic distribution profiles between the strains: C57BL/6j, C57BL/10j, (BALB/cXC57BL/6j)F₁, and all the following: B₆·C-H-2^d/cBy (congenic to C57BL/6j), BALB/c, CBA/H/T6j, C57BL/10Sn, and C3H. The C57BL/6j and the (BALB/cXC57BL/6j)F₁ cells appear more heterogeneous as far as electrophoretic mobility is concerned. Almost all the other strains give two major peaks. Moreover, the high mobility areas are less populated in the C57BL/6j and the (BALB/cXC57BL/6j)F₁ animals than in all the others. The above differences were found consistently when cells prepared by different methods were electrophoresed. It is concluded that the surface charge of lymphocytes may be genetically determined. Possible dependency on the H-2 complex or non-H-2 areas is discussed.     

Studies of esterase 6 in Drosophila melanogaster. I. The genetics of a posttranslational modification

A locus has been found, an allele of which causes a modification of some allozymes of the enzyme esterase 6 in Drosophila melanogaster. There are two alleles of this locus, one of which is dominant to the other and results in increased electrophoretic mobility of affected allozymes. The locus responsible has been mapped to 3-56.7 on the standard genetic map (Est-6 is at 3-36.8). Of 13 other enzyme systems analyzed, only leucine aminopeptidase is affected by the modifier locus. Neuraminidase incubations of homogenates altered the electrophoretic mobility of esterase 6 allozymes, but the mobility differences found are not large enough to conclude that esterase 6 is sialylated.This work was supported by NIH Grant No. GM23706 and PHS Grant SO7RR7031 to Rollin C. Richmond and by NIH Genetics Training Grant No. 82 to Indiana University.     

Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis

Summary We describe a genetic polymorphism of cytosol polypeptide with mol. wt. of 38,000 detected in phytohemagglutinin (PHA)-stimulated peripheral blood lymphocytes by two-dimensional gel electrophoresis. Three different electrophoretic phenotypes (type 1-1, 2-1, 2-2) of the polypeptide have been identified in a Japanese population. Family and population studies indicate that three phenotypes are determined by two common alleles at a single autosomal locus. Since the polypeptide is mainly present in cytosol of cells, we propose that the polypeptide be temporarily designated as cytosol polypeptide with mol. wt. of 38,000 (CP 38) and that the gene for CP 38 be designated as CP 38. The gene frequencies of two common alleles (CP 38 ¹ and CP 38 ²) are 0.899 and 0.101, respectively, in a Japanese population. The data on gel filtration of cytosol proteins on a Sephadex G-100 column suggest that CP 38 exists as a dimer in the cytosol. CP 38 was observed in the wide range of different cells, including B-lymphoblastoid cells, adult skin fibroblasts, HeLa cells, and erythrocytes. In 11 out of 72 individuals, the phenotypes of CP 38 were different from those of adenosine deaminase which is similar to CP 38 in subunit size, cell distribution, and allele frequencies. These data indicate that CP 38 is a new polymorphic polypeptide encoded by an autosomal locus.     

Electrophoretic mobility distributions of normal human T and B lymphocytes and of peripheral blood lymphoblasts in acute lymphocytic leukemia: effects of neuraminidase and of solvent ionic strength.

Human T and B lymphocytes were found to be distinguishable on the basis of electrophoretic mobility, with the T cells having the higher mobility, in agreement with previous reports. The effects of the enzyme neuraminidase on the electrophoretic mobilities of T and B lymphocytes were determined. T lymphocytes showed a greater decrease in electrophoretic mobility after neuraminidase treatment; the relative mobilities of T and B cells were reversed by neuraminidase treatment, and the electrophoretic distinguishability was enhanced. The electrophoretic mobility distributions of lymphoblasts from patients with acute lymphocytic leukemia were found to differ from those of normal cells in their response to neuraminidase treatment and to changes in solution ionic strength. These results imply that the surface structure of the leukemic cells differs from that of either T or B lymphocytes from normal donors.     

Esterase polymorphisms in Microtus ochrogaster: interaction and linkage

Three polymorphic loci have been identified in the prairie vole, Microtus ochrogaster. Together they control a group of plasma esterases which can be separated using starch gel electrophoresis. A structural locus, Es-1, produces an enzyme which from genetic evidence appears to be a dimer. The allele Es-1 ^a produces a wholly active subunit, and homozygotes give a single enzyme band. The product of the second allele, Es-1 ^o, cannot form active enzyme on its own but will dimerize with the Es-1 ^a subunit, giving a hybrid enzyme with a slower electrophoretic mobility than the pure Es-1 ^a enzyme. The third allele, Es-1 ^–, has no detectable product. A second structural locus, Es-2, is linked to Es-1. The allele Es-2 ^a produces a single enzyme band, but the second allele Es-2 ^– has no detectable product. A modifier locus, Me, changes the mobility of the Es-1 enzymes. Me ^f is dominant over me ^s, and in homozygotes for me ^s the mobility is reduced.This work was supported by National Science Foundation Grant GB6273.This is contribution No. 869 from that Department.     

A mannose phosphate isomerase polymorphism in the Isopod Asellus aquaticus

A mannose phosphate isomerase locus in Asellus aquaticus is highly polymorphic in two populations examined in Britain. Breeding studies indicate four classes of electrophoretic alleles based on mobility differences, a further null allele, and probable genetically determined variation in enzyme activity between individuals with the same electrophoretic alleles. No linkage with the polymorphic glucose phosphate isomerase and phosphoglucomutase loci was detectable.