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Gene dosage effect for fumarate hydratase (FH; E.C. 4.2.1.2) in partial trisomy 1

✍ Scribed by R. Braunger; H. Kling; W. Krone; M. Schmid; J. Olert

Book ID: 104709887
Publisher: Springer
Year: 1977
Tongue: English
Weight: 584 KB
Volume: 38
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00295809

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✦ Synopsis

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.

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