Thörig G E, Heinstra P W, Scharloo W
Genetics. 1981 Sep;99(1):65-74. doi: 10.1093/genetics/99.1.65.
We show that six mapped recessive lethal point mutations of the Notch locus affect mitochondrial enzyme activities: NADH oxidase, NADH dehydrogenase, succinate dehydrogenase and alpha-glycerophosphate dehydrogenase. The mutant N264-40, which has the same morphological and embryological effects as the Notch8 deletion, demonstrates the same biochemical effects and dosage relations as Notch8. The other five mapped recessive lethals also affect four enzymic activities. They show specific patterns of activity that depend in several cases on the wild-type chromosome in the heterozygous females. That effect occurs with mutants located in the extreme right part of the Notch locus where some mutations, according to other authors, show temperature-sensitive expression.
我们发现,Notch基因座的六个定位隐性致死点突变影响线粒体酶活性:NADH氧化酶、NADH脱氢酶、琥珀酸脱氢酶和α-甘油磷酸脱氢酶。突变体N264-40与Notch8缺失具有相同的形态学和胚胎学效应,表现出与Notch8相同的生化效应和剂量关系。其他五个定位隐性致死突变也影响四种酶活性。它们表现出特定的活性模式,在几种情况下取决于杂合雌性中的野生型染色体。这种效应发生在位于Notch基因座最右侧的突变体中,据其他作者报道,一些突变表现出温度敏感表达。