| Autor: |
BERNSTINE, EDWARD G., RUSSELL, LIANE B., CAIN, CAROLYN S. |
| Zdroj: |
Nature; February 1978, Vol. 271 Issue: 5647 p748-750, 3p |
| Abstrakt: |
THE region of chromosome 7 in Mus musculusin 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 experiments4,5to 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/cchlittermates 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. |
| Databáze: |
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