Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: EC:2.6.1.1 (aspartate aminotransferase)
21,665 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Kadazans, the largest indigenous group in Sabah, northern Borneo, were surveyed for glyoxalase I, phosphoglucomutase I, red cell acid phosphatase, esterase D, adenosine deaminase, soluble glutamate pyruvate transaminase, soluble glutamate oxaloacetate transaminase, 6-phosphogluconate dehydrogenase, uridine monophosphate kinase, adenylate kinase, peptidase B and D, superoxide dismutase, C5, group specific component, haptoglobin and transferrin. Kadazans were found to be polymorphic for GLO I, PGM I, RCAP, esterase D, ADA, s-Gpt, 6PGD, UMPK, Gc, C5, haptoglobin and peptidase B. Rare variants were found for transferrin and peptidase D. No variant was found for s-Got, SOD and AK.
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PMID:Biochemical genetic markers in the Kadazans of Sabah, Malaysia. 28 26

The hepatocyte and haematopoietic cell contents of the liver of the foetal guinea pig were measured over the latter half of gestation. Hepatocytes represented about 30% of liver volume at mid-gestation and this increased to 70-80% by term; cell volume remained fairly constant until 5-7 days before term, then more than doubled. Haematopoietic cells represented about 5% of liver volume at mid-gestation and this progressively fell to <1% by term. At 75% of gestation hepatocytes and haematopoietic cells were prepared from perfused foetal livers by collagenase digestion. Enzyme activity of the hepatocyte was, without exception, similar to that of the whole liver. In general, enzyme activity in the haematopoietic cells was similar to that in erythrocytes, with relatively low values for aldolase, glycerol 3-phosphate dehydrogenase, phosphoglycerate mutase, enolase, lactate dehydrogenase, phosphoenolpyruvate carboxykinase, fructose 1,6-bisphosphatase, isocitrate dehydrogenase, ;malic' enzyme, glutamate dehydrogenase and aspartate aminotransferase. The haematopoietic cell contribution to total enzyme activity in the foetal liver was usually much less than 10% and could thus not account for the major changes in hepatic enzyme activity over the latter half of gestation. Hepatocytes contained hexokinase isoenzymes I and III, aldolase isoenzymes A and B and pyruvate kinase isoenzymes 1, 2 and 4. The haematopoietic cells contained hexokinase isoenzyme I and two additional bands of activity with slightly greater mobility, aldolase isoenzyme A and pyruvate kinase isoenzymes 2 and 4.
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PMID:The distribution of enzyme and isoenzyme activities between parenchymal and haematopoietic cells in the liver of the foetal guinea pig. 43 88

1. The effects of protein concentration and ionic strength on the adsorption of the individual glycolytic enzymes to F-actin and F-actin--trypomyosin--troponin have been studied. 2. Appreciable association was demonstrated under conditions of physiological ionic strength and high protein concentration, and tropomyosin--troponin established as an important and generalized component of these interactions. 3. Phosphofructokinase, aldolase, pyruvate kinase, lactate dehydrogenase, glyceraldehyde-3-phosphate dehydrogenase and glucose-6-phosphate isomerase were strongly bound under these conditions, while triosephosphate isomerase, phosphoglycerate kinase, phosphoglycerate mutase, enolase and hexokinase displayed less adsorption to the structural proteins. 4. The influence of a number of parameters on the adsorption phenomena was examined. Ca2+ and fructose 1,6-diphosphate increased the adsorption of aldolase, lactate dehydrogenase and pyruvate kinase, while decreasing the adsorption of the enzymes of the constant-proportion group. 5. Of the other major enzymic components of skeletal muscle, creatine kinase, adenylate kinase and malate dehydrogenase showed no adsorption to F-actin--tropomyosin--troponin under the experimental conditions. Some adsorption was evident, however, in the case of aspartate aminotransferase, (NADP) isocitrate dehydrogenase and alpha-glycerolphosphate dehydrogenase. 6. These results have been discussed in relation to their functional significance and the roles of enzyme compartmentation in the cell.
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PMID:On the association of glycolytic enzymes with structural proteins of skeletal muscle. 111 88

The erythrocytes of 350 pigtailed macaques (Macaca nemestrina) were examined for electrophoretic variation of hemoglobin and 26 enzymes. Seven enzymes showed variation in more than 1% of individuals: phosphoglucose isomerase, phosphoglucomutase-1, soluble NADP-dependent isocitric dehydrogenase, peptidase A, peptidase C, 2,3-diphosphoglycerate mutase, and acid phosphatase. Variation with lesser frequency was found in soluble glutamic-oxalacetic transaminase, phosphoglycerate kinase, lactic dehydrogenase, and hemoglobin. Only eight samples were tested for esterase D, and one of these had a variant phenotype. Enzymes with no clear variation were adenylate kinase, adenosine deaminase, phosphofructokinase, hexokinase, pyruvate kinase, glyceraldehyde 3-phosphate dehydrogenase, aldolase, phosphoglycerate mutase, phosphopyruvate hydratase (enolase), phosphoglucomutase-3, and superoxide dismutase. There was father-to-son transmission of PGI, PGM-1, peptidase C, 6PGD, 2,3-DPGAM, NADP-ICD, and acid phosphatase variants, suggesting that these loci are autosomal as in man.
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PMID:Intraspecific red cell enzyme variation in the pigtailed macaque (Macaca nemestrina). 114 87

Using a database of allozyme studies, correlations in heterozygosity between selected enzyme loci (MDH, alpha GPDH, IDH, 6PGDH, LDH, SOD, AAT, PGM, EST, PGI) were calculated across vertebrate species. Large and positive correlations were observed with untransformed heterozygosity values. However, after transformation to correct for mean species heterozygosity, correlations were substantially reduced and median values were closer to zero. Some enzymes were more often involved in significant correlations than others, and correlations calculated across species within vertebrate classes were significant for different enzyme pairs in different classes. There was no evidence that significant correlations occurred primarily between functionally related enzymes. It is suggested that the observed correlations are best explained by variation between enzyme loci in functional constraint and effective neutral mutation rate.
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PMID:A study of interlocus allozyme heterozygosity correlations: implications for neutral theory. 152 53

Genetic variants of leukocyte mitochondrial glutamate oxaloacetate transaminase, mitochondrial malic enzyme and phosphoglucomutase locus III were studied in the Galician population. There was no significant heterogeneity between 8 Galician subpopulations. The gene frequencies in the total population were: GOT(2)2 = 0.025; ME(2)2 = 0.408; PGM(2)3 = 0.333. No rare variants were found.
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PMID:A population study of leukocyte enzymes (GOT2, ME2 and PGM3) in Galicia (NW Spain). 213 19

To survey the genetic resources of Atlantic salmon (Salmo salar L.) stocks in Finland, an electrophoretic study was made of natural and hatchery stocks. The stocks were compared with the nearest stocks in the USSR, and the effects of hatchery rearing were evaluated. The genetic variation within and between stocks was measured from 20 samples, of which three (Kola, Neva and Onega) were from the USSR. Twenty-five enzyme loci were examined, of which six were polymorphic: AAT-4, IDH-3, ME-3, MDH-3, PGM-1, and SDH-1. The mean heterozygosity of all the populations was 4.2% (1.0-7.2). For the natural salmon stocks of the Arctic Ocean, the mean heterozygosity was 6.3%, for the natural stocks of Atlantic salmon in the Baltic 4.8%, for the hatchery stocks 3.6%, and for the lake salmon (Salmo salar m. sebago Girard) 1.8%. The results are in agreement with the hypothesis that the amount of variation depends on the effective population size and that culture diminishes variation by decreasing the effective population size. All the stocks originating from different rivers differed from each other with statistical significance. The most unique stocks were the River Kola stock and the lake salmon stock from Lake Saimaa. The genetic distances were consistent with the geographic distance between the rivers from which the stocks originated. Stress is laid on the importance in fish culture of maintaining separate stocks and using larger brood stocks.
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PMID:Electrophoretically detectable genetic variation in natural and hatchery stocks of Atlantic salmon in Finland. 277 27

The ontogenetic trends in the expression of 25 isozymes in liver, gizzard, heart, and pectoralis muscle of White Leghorn chickens were examined using starch gel electrophoresis. Little change in expression during development was evident in liver S-AAT-A, GPI-A, S-ICDH-A, S-MDH-A and M-MDH-A, in gizzard S-ACON-A, ADH-A, GPI-A, HK-1, HK-3, ME-A PEP-1, and PGM-A, in heart ADH-A, HK-1, HK-3, ME-A, PEP-2, PGM-A, and LDH-A, in pectoralis M-ACON-A, S-ACON-A, ADH-A, HK-1, HK-3, ME-A, PEP-2, and PGM-A, and in liver, gizzard, and heart M-ACON-A, ALD-A, CK-A, G3PDH-A, HK-1, and PGDH-A. Increasing levels of activity were demonstrated in liver ADH-A, ME-A, and PEP-2, in heart M-MDH-A, S-ICDH-A, M-ICDH, and M-AAT-A, and in pectoralis LDH-A, LDH-B, G3PDH-3, ALD-A, CK-A, HK-2, and PGM-B. There was a decrease in the activity of HK-1 in liver and in PEP-1 and PGDH-A in pectoralis muscle throughout development. While CK-C is active in the embryonic pectoralis, CK-A is restricted to later developmental stages. Isozyme expressions in regions of the pectoralis containing fast and slow muscle fibers in 7-month-posthatch individuals were noted and found to be identical. The results underscore the need to use similar developmental stages and tissue samples in comparative electrophoretic studies of birds.
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PMID:A survey of tissue-specific isozyme expressions during chicken ontogeny. 360 63

Linkage relationships among five polymorphic enzyme-coding gene loci in the marine copepod Tigriopus californicus have been determined using electrophoretic analysis of progeny from laboratory matings. Phosphoglucose isomerase (PGI; EC 5.3.1.9) was found to be tightly linked to glutamate-pyruvate transaminase (GPT; EC 2.6..1.2), with only one recombinant observed in 364 progeny; glutamate-oxaloacetate transaminase (GOT; EC 2.6.1.1) is linked to the PGI-GPT pair, with a recombination fraction of approximately 0.20 in male double heterozygotes. Phosphoglucomutase (PGM; EC 2.7.5.1) and an esterase (EST; EC 3.1.1.1) are not linked to the PGI, GPT, GOT grouping, which has been designated linkage group I. Reciprocal crosses have revealed that no recombination occurs in female T. californicus; this observation confirms a previous report that meiosis in female Tigriopus is achiasmatic.
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PMID:Linkage relationships among five enzyme-coding gene loci in the copepod Tigriopus californicus: a genetic confirmation of achiasmiatic meiosis. 646 28

Trisomy 19 (Ts19), the only murine trisomy compatible with survival beyond birth, allows systematic studies on the effect of an additional chromosome upon postnatal development. In this review, developmental consequences of murine Ts19 are presented. In Ts19 mice, viability is limited to a few weeks postpartum. Body weight is markedly reduced. The occurrence of malformations of the cardiovascular, skeletal and central nervous systems depends on the parental genetic background. In all organ systems examined, development is delayed by 1-2 days. Ts19 hematopoietic cells exhibit the same survival rate in lethally irradiated hosts as controls. In the CNS, morphological and morphometric studies fail to detect cytoarchitectonic abnormalities: the orderly pattern of development is not disturbed in the visual cortex, cerebellum, locus coeruleus (LC), optic nerve and retina; but neurogenesis, gliogenesis, myelination and invasion of blood vessels are each delayed by 1-2 days. In addition, size and cell number of different brain regions are reduced to a variable degree: the telencephalon and the cerebellar vermis are markedly hypoplastic, whereas the LC, the optic nerve and the retina are hardly reduced in size. Choline acetyltransferase activity is selectively reduced in the Ts19 telencephalon, whereas the activity of the marker enzyme of the GABAergic system is decreased in all brain regions examined. In behavioral tests, visual capacities and orientation ability of Ts19 mice develop with a 2-day delay, while motor coordination is more severely retarded; there is no response to auditory stimulation. Fetal Ts19 ovaries show excessive oocyte degeneration. Development of the testes is only disturbed postnatally: differentiation of gonocytes to A spermatogonia and formation of B spermatogonia are severely disrupted, resulting in a striking reduction in germ cell number and a predominance of Sertoli cells. Histopathological changes exhibit marked intra- and interindividual variations. In addition, growth and lumen formation are impaired in the seminiferous tubules. The proliferative capacity of cultured Ts19 cells is not altered. The activities of glutamate oxaloacetate transaminase-1 and phosphoglycerate mutase-1 are increased by 50%, compatible with a gene dosage effect of these two enzymes. Ganglioside composition is altered in the Ts19 liver, but not in the brain, spleen and heart. Two-dimensional protein patterns show both chromosome-specific and chromosome-nonspecific changes, their frequency being far lower than expected from the number of proteins coded on chromosome 19. Possible pathogenetic mechanisms are discussed.
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PMID:Developmental characteristics of trisomy 19 mice. 781 12


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