Faculty Research 1970 - 1979


Influence of gene duplication and X-inactivation on mouse mitochondrial malic enzyme activity and electrophoretic patterns.

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Animal, Chromosome-Aberrations, Chromosome-Mapping, Female, Malate-Dehydrogenase: bi, Male, Mice, Mitochondria-Muscle: en, Myocardium: ul, Phenotype, Sex-Chromatin, Sex-Chromosomes, SUPPORT-U-S-GOVT-P-H-S, Translation-Genetic, Translocation-(Genetics)

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Genetics. 1977 Apr; 85(4):647-58.


We have investigated, with and without the influence of X-inactivation, the relationship between autosomal gene-dosage and gene-product in a mammalian system, the mouse. The gene was mitochondrial malic enzyme (Mod-2), shown to lie on Chromosome 7 between the albino (c) and shaker-1 (sh-1) loci, and the enzyme was its product, mitochondrial malic enzyme (MOD-2). Gene duplication, with and without the influence of X-inactivation, was achieved using a translocation that involves the insertion of a portion of Chr 7, including Mod-2, into the X, T(X;7)1Ct. A 1:1 relationship for Mod-2 dosage and MOD-2 activity was found in heart mitochondria. Evidence of X-inactivation of Mod-2 was noted in heart and kidney preparations from females carrying a Mod-2 duplication (one copy of Mod-2 in the X and two copies of Mod-2 on Chr 7). We conclude that the expression of an autosomal locus attached to X-chromatin depends upon whether the translocation is in a balanced or unbalanced state.

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