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PubMed1988

Fructose 2,6-bisphosphate inhibition of phosphoglucomutase.

Fructose 2,6-bisphosphate inhibits phosphoglucomutase noncompetitively with respect to the cofactor glucose 1,6-bisphosphate. Previous studies from our laboratory had shown that phosphoglucomutase was activated by fructose 2,6-bisphosphate in the absence of added glucose 1,6-bisphosphate. The fructose 2,6-bisphosphate activation previously reported was due to the presence of glucose 1,6-bisphosphate in the commercial preparation of fructose 2,6-bisphosphate.

Journal Article↗

PubMedDate not supplied

Phosphoglucomutase genetic polymorphism of newborns.

An association of the phosphoglucomutase locus 1 (PGM1) genetic polymorphism with repeated spontaneous abortion (RSA), with intrauterine development in both normal and diabetic pregnancies, and with fertility has been reported in previous studies. In view of the evolutionary interest and of a possible clinical relevance of PGM1 selection during intrauterine life, this study considers healthy puerperae, consecutive newborns, and couples with RSA as well as two alleles (PGM1*1 and PGM1*2). The joint maternal-neonatal PGM1 distribution in a sample from an Italian rural population is significantly different from that expected assuming Hardy-Weinberg conditions for equilibrium. Deviation is dependent on maternal age and parity. The joint mother-newborn PGM1 genotype distribution is significantly associated with a positive history of previous spontaneous miscarriage, suggesting that the presence of the PGM1*2 allele in the father predisposes to spontaneous abortion. This hypothesis is also supported by the observation that in couples with RSA, the delivery of a live born infant within 5 years from the first episode of miscarriage is negatively associated with the presence of a PGM1*2 allele in the husband. Altogether these observations suggest the hypothesis of PGM1 maternal selection at the reproductive level involving a differential role of PGM1*1 and PGM1*2 alleles of paternal origin.

Abortion, Habitual↗

PubMed1982

Population genetics of the group specific component (Gc) and phosphoglucomutase (PGM1) studied by isoelectric focusing.

For the determination of the group-specific component (Gc) and phosphoglucomutase (PGM1) phenotypes, isoelectric focusing was performed on two samples, one of Jat Sikh of northwest India, the other of northeast English. The subtype frequencies of these two systems do not differentiate the two populations sampled. Synthesis of the existing data shows distinct PGM1 and Gc subtype frequencies in various ethnic and racial groups. The anthropological implication of these subtype frequencies is discussed.

Alleles↗

PubMed1988

Distribution of red cell phosphoglucomutase-1 subtypes in several Mongoloid populations of East Asia.

The distribution of red cell phosphoglucomutase (PGM) subtypes was determined by starch-gel electrophoresis and isoelectric focusing in a group of 2,484 unrelated individuals from ten Mongoloid populations of East Asia. The sample comprised 998 Chinese from various localities--Singapore, 325; Malaysia, 270; Taiwan, 276; Hong Kong, 67; Fouzhou, 60--as well as 342 Koreans; 252 Filipinos; 529 Thais; 336 Malays, and 27 Indonesians. Altogether 15 phenotypes controlled by four common and five rare alleles at the PGM1 locus were observed in these populations. The frequency of the most frequent allele (PGM1+) varied from 0.56 to 0.74, with the highest frequency observed in the Singapore Chinese and the lowest in the Malays. Within the Chinese from different localities a significant degree of heterogeneity was observed at the PGM1 locus. The rare allele (PGM17)6 was observed only among the Chinese, Thais, and Malays, while the PGM1 was lacking in the Filipinos. A new allele with ahigh pI (6.5) was observed in a low frequency in all the populations but the Malays.

Adult↗

PubMed1988

Subtyping of phosphoglucomutase 1 (PGM1) in microstains of different biological materials with subsequent species differentiation without further stain material consumption.

Micromethods for subtyping of phosphoglucomutase 1 (PGM 1) in small amounts of biological stain material are described, using an applicator for highly diluted stain extracts. With the aid of this applicator strip blood and semen micro-stains as well as single hair-roots could be extracted by electroelution directly on the PGM1 isoelectric focusing gel. Species differentiation was also possible either by radial immunodiffusion using the extract remaining in the applicator strip after isoelectric focusing or by interpretation of the PGM pattern itself.

Blood Stains↗

PubMed1995

A novel human phosphoglucomutase (PGM5) maps to the centromeric region of chromosome 9.

The phosphoglucomutases (PGM1-3) in humans are encoded by three genes, PGM1, PGM2, and PGM3. These enzymes are central to carbohydrate metabolism. All three isozymes show genetic variation, and PGM1 has achieved prominence as a key marker in genetic linkage mapping and in forensic science. The human PGM genes are assumed to have arisen by gene duplication since their products are broadly similar in structure and function; however, direct proof of their evolutionary relationship is not available because only PGM1 has been cloned. During a search for other members of the PGM family, a novel sequence with homology to PGM1 was identified. Mapping using fluorescence in situ hybridization and somatic cell hybrids locates this gene to the centromeric region of chromosome 9. RT-PCR and Northern analysis indicate that this is an expressed PGM gene with widespread distribution in adult and fetal tissues. We propose that this gene be designated PGM5 and that it represents a novel member of the PGM family.

Adult↗

PubMed2000

Functional recombinant rabbit muscle phosphoglucomutase from Escherichia coli.

The gene coding for phosphoglucomutase (PGM) from Oryctolagus cuniculus (rabbit) has been expressed in Escherichia coli under a T7 expression system with a His-tag. About half of the expressed PGM protein was present in inclusion bodies, but this protein was inactive when solubilized. The protein in the soluble cell fraction was isolated and purified in one step on a Ni-NTA column. The eluate from this column was adjusted to 95% saturated ammonium sulfate, and the resulting protein precipitate was resuspended in sodium phosphate buffer and dialyzed against 2.5 M ammonium sulfate. The final yield of protein was about 10 mg per liter of LB medium. The protein was judged to be greater than 90% pure on the basis of gel electrophoresis and activity measurements (128 U per milligram). Our motivation for developing this bacterial production system for PGM has been to prepare sufficient quantities of stable-isotope-labeled protein for experiments that utilize recently developed NMR technologies suitable for proteins the size of PGM (61.6 kDa). Preliminary NMR studies indicate that the current level of purity is adequate for this work. The construct described here was designed to incorporate an N-terminal His-tag for ease of isolation. Although PGM is a metalloprotein, the His-tag does not appear to interfere with activity. The presence of the His-tag should not pose a problem for proposed (31)P NMR investigations of the protein and its complexes in aqueous solution or incorporated into reverse micelles. However, we plan to design a cleavable His-tag for later (1)H, (13)C, (15)N studies of the active site, which includes essential histidine residues.

Amino Acid Sequence↗

PubMed1975

A contribution to the phenotype distribution of phosphoglucomutase in Czechoslovakia (the district of Ceské Budĕjovice).

A population sample of 416 unrelated donors from Ceske Budejovice (southern Bohemia) was investigated for the phenotypes of phosphoglucomutase (PGM). The calculated frequencies of the alleles PGM1-1 and PGM2-1 0.770 and 0.230, respectively, correspond to the expected frequencies of the phenotypes PGM 1 equals 0.593, PGM 2--1 equals 0.354, and PGM 2 equals 0.0529. No rare phenotype was detected.

Alleles↗

PubMed1983

Some genetic implications of isoelectric focusing of human red cell phosphoglucomutase (PGM1) and serum protein group specific component (Gc): genetic diversity in the populations of Himachal Pradesh, India.

For the study of group specific component (Gc) and phosphoglucomutase (PGM1) polymorphism, isoelectric focusing was performed on eleven tribal and non-tribal populations of Himachal Pradesh, India. They were chosen to illustrate interregional and intraregional variations. The subtype frequencies of these two systems showed clear differences in the genetic constitution of these populations of Himachal at both levels. There is a large increase in the mean heterozygosity (H) for each system by isoelectric focusing over that shown by electrophoresis. Discriminant and distance analyses both suggest that the subtype frequencies provide greater potential for the study of genetic diversity among populations. The data on these additional alleles found by isoelectric focusing are examined for some of their genetic and anthropological implications.

Carrier Proteins↗

PubMed1984

Erythrocyte phosphoglucomutase: a family study of a PGM1 deficient allele.

We have observed a large Mexican American family segregating for a low activity allele at the phosphoglucomutase-1 locus. The deficient allele is detectable by starch gel electrophoresis and by direct activity determination. The presence of the deficient allele in either the homozygous or heterozygous condition is not associated with any other phenotypic finding.

Alleles↗

PubMed1982

Isoelectric focusing of human red cell phosphoglucomutase (PGM1). Phenotype distribution in the population of Tuscany and two hereditary variants.

Phosphoglucomutase (PGM1) phenotypes were determined in a population sample of Tuscany, Italy, by isoelectric focusing. The frequencies observed for the four alleles are: PGM1+1 = 0.6012, PGM1-1 = 0.1059, PGM2+1 = 0.2495, PGM2-1 = 0.0434. Two variants were detected and it was possible to study the parentage of both of them. The pedigree of the propositus of the first variant shows that the variant occurs in combination with the common alleles PGM1 1+ and PGM1 2+ and that it has an autosomal dominant inheritance. The second variant has been shown to be a product of the PGM2 locus, although its PAGIF pattern is included between 2- and 1+ isoenzymes.

Gene Frequency↗

PubMed1979

Characterisation of the isoenzymes of phosphoglucomutase (PGM) determined by the first (PGM1) and second (PGM2) locus observed by isoelectric focusing.

The existence of four alleles of phosphoglucomutase (PGM1) in human red cell lysates has previously been demonstrated by isoelectric focusing (Bark et al., 1976; Kühnl et al., 1977; Sutton and Burgess, 1978). Experiments are now described in which the position of each of the first-locus (PGM1) and second-locus (PGM2) isoenzymes is defined, thus extending and confirming the original proposal made by Bark et al.

Alleles↗

PubMed1978

Investigations on the PGMa1 polymorphism (phosphoglucomutase--EC 2.7.5.1) by isoelectric focusing.

The determination of phosphoglucomutase (PGM1) phenotypes was performed by isoelectric focusing on samples from 1678 unrelated individuals from Hessen, Germany. Ten common phenotypes are considered as gene products of four alleles at the PGM1 locus with the following frequencies: PGMa1(1) = 0.6305, PGMa2(1) = 0.1844, PGMa3(1) = 0.1320, and PGMa4(1) = 0.0530. Twenty-two different mating types were observed in 113 families with 202 children. The segregation of the phenotypes in the offspring supports the assumed way of autosomal codominant inheritance. The example of a silent allele (PGM0(1)) as well as a rare variant (PGM7(1)) is reported.

Alleles↗

PubMed1981

Red cell phosphoglucomutase (PGM)-deficiency: hereditary defect of the PGM1-locus.

Reduced phosphoglucomutase (PGM) activity (approximately 25% of normal) was found in erythrocytes from a healthy newborn infant. The PGM activity was also diminished (approximately 50% of normal) in the erythrocytes of the parents. No PGM1 isoenzymes were found in the erythrocytes of the propositus, as demonstrated by the starch gel electrophoresis. Both parents showed a normal distribution of the PGM1 isoenzymes. We propose a heterozygous state in the parents for a gene determining the activity of the PGM1 isoenzymes and that no activity of the PGM1 isoenzyme could be detected in erythrocytes of the propositus because of his homozygous state. In neonatal screening for galactosaemia red cell PGM deficiency gives false positive results, as does glucose-6-phosphate dehydrogenase deficiency.

Diagnosis, Differential↗

PubMed1975

Sexual differentiation in Aspergillus nidulans: the requirement for manganese and the correlation between phosphoglucomutase and the synthesis of reserve material.

Aspergillus nidulans was completely devoid of fruit bodies when grown on manganese deficient cultures. This result was shown earlier to be due to a lack of alpha-1,3 glucan in the cell wall. Several enzymes of carbon and nitrogen metabolism were investigated in an attempt to explain the absence of this reserve material. Synthesis of glucose-6-phosphate dehydrogenase, phosphoglucoisomerase and aldolase, were not strongly affected by manganese deficiency. However, phosphoglucomutase showed only 60% of the activity of the control cultures and it was argued that this was connected with the low amounts of alpha-1,3 glucan synthesized. Malate dehydrogenase was the enzyme the least affected by manganese deficiency and the two to threefold higher activity measured after glucose depletion might indicate the induction of the glyoxylate cycle. An impaired glutamine synthetase could explain the increase in activity observed for NAD-glutamine dehydrogenase.

Aspergillus↗

PubMed1982

Description and genetics of glucose phosphate isomerase (GPI) and phosphoglucomutase (PGM) polymorphisms in Asellus aquaticus (L.).

Analysis of Western European populations of Asellus aquaticus uncovered 10 electrophoretic phenotypes of glucose phosphate isomerase (GPI) and 7 of phosphoglucomutase (PGM). Breeding studies indicate that the variation is controlled by codominant alleles at two autosomal loci. Genotype frequencies in the two sexes do not differ significantly, mating between genotypes is random, and no structural linkage is detectable between the two loci. PGM shows nongenetic, "secondary" banding, particularly in animals stored at -20 degrees C prior to electrophoresis. This secondary banding confounds the identification of the genetic variation but can be controlled by the reducing agent 2-mercaptoethanol.

Alleles↗

PubMed1981

Linkage of Pgm-3 in the house mouse and homologies of three phosphoglucomutase loci in mouse and man.

The discovery of a third phosphoglucomutase locus (Pgm-3) in the house mouse is reported. Three alleles are recognized on the basis of differences in electrophoretic mobility and enzymatic activity. Pgm-3A (fast mobility and high activity) is present in inbred strain C57BL/10J and 24 other strains; Pgm-3b (slow mobility and high activity) is present in LP/Pas and six other strains; and Pgm-3c (no detectable activity in any tissue tested) is present in strain DBA/2J and 14 other strains. Seventy-four recombinant inbred strains derived from progenitors that differed at Pgm-3 were used to study genic linkage. Pgm-3 is on chromosome 9 and is linked to Sep-1, d, Mod-1, and Ltw-3. Gene order and recombination frequencies are estimated as d 3.8 +/- 1.8%. Pgm-3 2.3 +/- 1.2% Mod-1. Substrate specificities and cofactor requirements show that mouse Pgm-1 is homologous with human Pgm-2, mouse Pgm-2 with human Pgm-1, and mouse Pgm-3 with human Pgm-3.

Alleles↗

PubMed1983

Inheritance, intracellular localization, and genetic variation of phosphoglucomutase isozymes in maize (Zea mays L.).

Phosphoglucomutase (PGM; EC 2.7.5.1) isozyme variants were studied in a large number of inbred lines, crosses, and races of maize (Zea mays L.). Patterns of Mendelian inheritance demonstrated for PGM isozyme variants indicated that they are encoded by nuclear genes. Two unlinked loci, Pgml and Pgm2, located on the long arm of chromosome 1 and the short arm of chromosome 5, respectively, specify the observed electrophoretic variation on starch gels. No intra- or interlocus hybrid bands were found, suggesting that each isozyme band consists of a single polypeptide. PGM isozymes were present in all plant parts studied and the activity specified by both loci appears to reside in the cytoplasm. In studies of 520 racial collections of maize from Latin America, a single allele at each locus predominated in most collections. Likewise, the same alleles predominated in a set of 406 inbred lines of maize from the United States and Canada.

Genetic Variation↗