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Effect of gene dosage on expression of mitochondrial malic enzyme activity in the mouse

Abstract

THE region of chromosome 7 in Mus musculus in which the albino (c) locus is located is of special interest because it is involved in deficiencies1–6, a duplication7,8, and X-autosome translocations9–11. The structural gene (Mod-2) for mitochondrial malic enzyme (MOD-2) maps about 1 centimorgan (ref. 12) to the distal side of c, and has been shown by genetic experiments4,5 to be deleted in certain lethal albino mutations. Over 30 independently isolated homozygous lethal c-locus mutations have been recovered and characterised at Oak Ridge. In this report we have compared the level of MOD-2 expression in animals heterozygous for lethal c-locus mutations (cch/c*) with that of their cch/cch littermates in order to clarify the precise quantitative effect of gene dosage on the expression of enzyme activity in this system. We have shown that enzyme activity is linearly related to gene dosage in both heart and kidney. The data demonstrate that four out of seven complementation groups of c* mutations are most simply explained as deficiencies that include Mod-2.

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BERNSTINE, E., RUSSELL, L. & CAIN, C. Effect of gene dosage on expression of mitochondrial malic enzyme activity in the mouse. Nature 271, 748–750 (1978). https://doi.org/10.1038/271748a0

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