Revertants of the cyc1-512 transcription termination mutant of the yeast Saccharomyces cerevisiae were isolated and subjected to a detailed genetic analysis. The cyc1-512 mutation previously was shown to be a 38-base pair deletion that causes only 10% of the normal steady-state levels of CYC1 mRNA and of the CYC1 gene product, iso-1-cytochrome c. Forty-one cyc1-512 revertants were classified by their content of iso-1-cytochrome c and by their genetic properties in meiotic crosses. Many of the revertants contain local genetic changes that either partially or completely restore the level of iso-1-cytochrome c. One revertant was shown to contain an unlinked extragenic suppressor, designated sut1, that causes partial suppression of the transcription termination defect. Four revertants of cyc1-512 contain chromosomal rearrangements with breakpoints that are tightly linked to the CYC1 locus; these include one duplication, one possible inversion, and two reciprocal translocations. Detailed genetic mapping demonstrated that one of the reciprocal translocations is between the right arms of chromosomes X and XII, with a breakpoint mapping 3' to the CYC1 locus. These results indicate that the defect in transcription termination in cyc1-512 can be restored in a variety of ways, including the translocation of different chromosomal regions to the 3' end of the CYC1 locus, local changes presumably at or near the original defect, and by mutation at another locus distinct from CYC1.

译文

分离酿酒酵母的cyc1-512转录终止突变体的回复子,并进行详细的遗传分析。先前显示cyc1-512突变是38个碱基对缺失,仅引起cyc1mrna和CYC1基因产物的正常稳态水平的10%,iso-1-cytochrome c。41个cyc1-512回复子根据它们的iso-1-cytochrome c含量和它们在减数分裂杂交中的遗传特性进行分类。许多回复剂含有部分或完全恢复iso-1-cytochrome c水平的局部遗传变化。一种回复剂被证明含有未连接的基因外抑制子,称为sut1,其导致部分抑制转录终止缺陷。cyc1-512的四个回复剂包含具有与CYC1基因座紧密相连的断点的染色体重排; 这些包括一个重复,一个可能的反转和两个相互易位。详细的遗传图谱表明,相互易位之一是在X和XII染色体的右臂之间,断点将3' 映射到CYC1基因座。这些结果表明,cyc1-512转录终止的缺陷可以通过多种方式恢复,包括不同的染色体区域易位到CYC1基因座的3' 末端,可能在原始缺陷处或附近发生局部变化,以及通过不同于CYC1的另一个基因座的突变。

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