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)

Most chromosome aberrations in gliomas are numerical, resulting in either gains or deficiencies of whole chromosomes. In tumors of low malignancy, the karyotype is frequently normal or exhibits a loss of sex chromosome and a gain of chromosome 7. These two anomalies may not be directly related to malignancy. In the highly malignant cases, the two most frequent aberrations are the gain of chromosome 7 and the loss of chromosome 10, other anomalies such as losses or deletions of chromosomes, 9, 22, 6, 13 and 14 being detected at various frequencies. Several of these chromosomes carry important genes of adenine metabolism: AK1 and AK3 (adenylate kinase) and MTAP (methylthioadenosine phosphorylase) for chromosome 9; ADK (adenosine kinase) and mitochondrial ATPase for chromosome 10; ADSL (adenylosuccinate lyase) for chromosome 22, NP (nucleoside phosphorylase) for chromosome 14. We performed the corresponding assays of enzyme activity on both fresh tumors and tumors grafted on nude mice, which showed that these enzymes had a relatively low activity although the tumors were proliferating. However, chromosome losses do not seem to directly cause the metabolic alterations by gene dosage effect. Interestingly, chromosome 10, frequently deficient, also carries genes of importance for glycolysis (hexokinase) and glutamate metabolism (glutamate dehydrogenase and glutamate oxaloacetate transaminase). The deficiency for these genes could be taken into account for a better type of chemotherapy by antimetabolics.
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PMID:[Chromosome abnormalities and adenine metabolism in human glial tumors]. 144 60

Interspecific F1 hybrids of Peromyscus maniculatus (deermice) and P. polionotus (oldfield mice) were backcrossed to P. maniculatus. Backcross progeny were electrophoretically typed for 11 variant protein markers: albumin, transferrin, leucine aminopeptidase, amylase, 6-phosphogluconate dehydrogenase, nucleoside phosphorylase, dipeptidase, tripeptidase, glutamate oxaloacetate transaminase, alcohol dehydrogenase, and sorbitol dehydrogenase. Genetic variation for each protein was attributed to a single autosomal locus. The alcohol dehydrogenase (Adh), salivary amylase (Amy), and albumin (Alb) loci appeared to be linked in the sequence of Adh-11.5 cM-Amy-33.3 cM-Alb. The tripeptidase locus, Pep-2, also may be loosely linked to Alb in this group. Variants at all other loci assorted independently. These and other known linkage relationships in Peromyscus correspond closely to those of the house mouse, Mus musculus. The available evidence in Peromyscus further supports the concept of linkage conservation by natural selection.
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PMID:Linkage relationships among eleven biochemical loci in Peromyscus. 620 Jan 3

Multilocus enzyme electrophoresis was developed to evaluate the genetic diversity of 71 human strains and 17 animal strains of Clostridium perfringens. Crude protein extracts, obtained by sonication of washed bacteria, were analyzed by polyacrylamide-agarose gel electrophoresis to characterize electrophoretic mobility variants of seven enzymes (esterase, glutamate dehydrogenase, glutamic-oxaloacetic transaminase, nucleoside phosphorylase, phosphoglucose isomerase, phosphoglucomutase, threonine dehydrogenase). Genetic diversity of the enzyme loci ranged from 0.340 to 0.813. Sixty-nine electrophoretic types were described among the 88 strains tested and the index of discrimination was 0.994. All strains were typable, and epidemiological relationships between isolates could be established. This method showed a fair correlation with esterase electrophoretic typing based on hydrolytic and electrophoretic polymorphism of esterases. This work demonstrates that multilocus enzyme polymorphism is a reliable and discriminant marker of genetic diversity of strains of C. perfringens.
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PMID:Multilocus enzyme typing of human and animal strains of Clostridium perfringens. 808 23