Gene dosage effect for fumarate hydratase (FH; E.C. 4.2.1.2) in partial trisomy 1.
A strain of fibroblasts partially trisomic for the larger part of 1q (Norwood and Hoehn, 1974) contains about 1.5 times as much fumarate hydratase (FH) as various control-strains. This gene dosage effect was ascertained by (1) comparative measurements of the specific activity; (2) relating the specific activity of FH to that of reference enzymes, not influenced by the chromosomal anomaly; and (3) by immunoprecipitation methods, using a rabbit antiserum against pig heart FH which cross-reacts with the human enzyme. Among others, this gene dosage effect can be demonstrated numerically by the following parameters: Ratio of the average specific activity of FH in the trisomic strain to that of the control strains: 1.53. Corresponding ratio after dividing FH activity by that of reference enzymes; for acid phosphatase: 1.58, for glutamate dehydrogenase: 1.53. Average ratio of the immunoprecipitation areas obtained upon radial immunodiffusion according to Mancini et al. (1965): 1.56.
D000135:Acid Phosphatase; D000293:Adolescent; D000328:Adult; D000818:Animals; D002900:Chromosomes, Human, 1-3; D005347:Fibroblasts / Q000201:enzymology; D005649:Fumarate Hydratase / Q000235:genetics*; D005969:Glutamate Dehydrogenase; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D011233:Precipitin Tests; D013552:Swine; D014314:Trisomy
D005969:Glutamate Dehydrogenase; D000135:Acid Phosphatase; D005649:Fumarate Hydratase