Hudspeth M E, Vincent R D, Perlman P S, Shumard D S, Treisman L O, Grossman L I
Proc Natl Acad Sci U S A. 1984 May;81(10):3148-52. doi: 10.1073/pnas.81.10.3148.
The var1 locus of yeast mitochondrial DNA encodes a protein of the small mitochondrial ribosome subunit, denoted var1 protein. The size of var1 protein was previously shown to exhibit a strain-dependent polymorphism, determined by various combinations of at least three genetic elements. We report here that the var1 gene is itself polymorphic and that the six forms of this gene examined here differ by various combinations of three in-frame insertions into the coding region of the smallest allele. These insertions, which appear to be the molecular basis for the genetic elements, could increase the size of var1 protein by 8, 10, 16, 24, or 26 amino acid residues, accounting for the observed protein polymorphisms. Furthermore, we have characterized three additional sources of sequence variation located outside of the coding region but within major transcripts of the var1 gene.
酵母线粒体DNA的var1位点编码小线粒体核糖体亚基的一种蛋白质,称为var1蛋白。先前已表明var1蛋白的大小呈现出菌株依赖性多态性,这由至少三个遗传元件的各种组合所决定。我们在此报告,var1基因本身具有多态性,并且我们在此研究的该基因的六种形式因在最小等位基因编码区的三个框内插入的各种组合而有所不同。这些插入似乎是遗传元件的分子基础,可使var1蛋白的大小增加8、10、16、24或26个氨基酸残基,这解释了所观察到的蛋白质多态性。此外,我们还鉴定了位于编码区之外但在var1基因主要转录本内的另外三种序列变异来源。