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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Gene dosage effect for fumarate hydratase ( FH; E.C. 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.[1]


  1. Gene dosage effect for fumarate hydratase (FH; E.C. in partial trisomy 1. Braunger, R., Kling, H., Krone, W., Schmid, M., Olert, J. Hum. Genet. (1977) [Pubmed]
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