Bulfield G, Moore E A, Kacser H
Genetics. 1978 Jul;89(3):551-61. doi: 10.1093/genetics/89.3.551.
Variation in the activity of 21 liver and 15 erythrocyte enzymes between seven inbred strains of mice has been studied in a single area of metabolism, glycolysis and gluconeogenesis. Most of the variation between the strains is genetic. From the variation within and between inbred strains heritabilities (H2) were determined. Out of 35, 26 showed significant values above 0.4. A comparison with previously published work suggests that enzyme activities have mainly dominance and interaction components of variance, and this is discussed in relation to the variation in quantitative characters such as growth. In nine of the pairwise comparisons of the strains, the activity of the enzyme varied more than two-fold. In these cases the genetics and biochemistry of the enzyme was studied; F2 progeny were produced and assessed for segregation, and the heat stability of the enzyme was determined. No unequivocal segregation was observed, although in one case we found a considerable difference in heat stability. The variations found were not considered to be great enough to be useful as models of human inborn errors of metabolism or to study metabolic control. If such variants are to be found, sources of variation other than inbred strains must be used.
在糖酵解和糖异生这一单一代谢领域,研究了七种近交系小鼠中21种肝脏酶和15种红细胞酶活性的变化。品系间的大多数差异是遗传性的。根据近交系内和近交系间的差异确定了遗传力(H2)。在35种酶中,26种显示出显著高于0.4的值。与先前发表的研究结果相比表明,酶活性主要具有显性和互作方差成分,并结合生长等数量性状的差异进行了讨论。在品系的九对两两比较中,酶的活性变化超过两倍。在这些情况下,研究了酶的遗传学和生物化学;产生了F2后代并评估其分离情况,并测定了酶的热稳定性。虽然在一个案例中我们发现热稳定性存在相当大的差异,但未观察到明确的分离现象。所发现的差异被认为不够大,不足以用作人类先天性代谢缺陷的模型或研究代谢控制。如果要找到此类变体,必须使用除近交系以外的其他变异来源。