Yu Q, Jacquier A C, Citri Y, Hamblen M, Hall J C, Rosbash M
Proc Natl Acad Sci U S A. 1987 Feb;84(3):784-8. doi: 10.1073/pnas.84.3.784.
The pero1 and the pers mutations in Drosophila melanogaster, which seem to eliminate or speed up, respectively, the clocks underlying biological rhythmicity, were mapped to single nucleotides. Chimeric DNA fragments consisting of well-defined wild-type plus mutant DNA subsegments were constructed, introduced into flies by germ-line transformation, and assayed for biological activity. These experiments localized both pero1 and pers to a 1.7-kilobase DNA fragment that is mostly coding DNA. Sequencing of this subsegment from each mutant showed that pero1 is completely accounted for by a nonsense mutation in the third coding exon of a 4.5-kilobase RNA transcribed from this locus. The pers mutation is also a single nucleotide substitution, in the fourth coding exon, which results in a serine-to-asparagine substitution in the per gene protein product. The functional significance of these changes is discussed with reference to the phenotypes of the two mutations.
在黑腹果蝇中，pero1和pers突变似乎分别消除或加速了生物节律的生物钟，这两种突变被定位到单个核苷酸上。构建了由明确的野生型加突变型DNA亚片段组成的嵌合DNA片段，通过种系转化引入果蝇，并检测其生物活性。这些实验将pero1和pers都定位到一个1.7千碱基的DNA片段上，该片段主要是编码DNA。对每个突变体的该亚片段进行测序表明，pero1完全是由从该基因座转录的4.5千碱基RNA的第三个编码外显子中的一个无义突变引起的。pers突变也是第四编码外显子中的单个核苷酸替换，这导致了per基因蛋白质产物中丝氨酸到天冬酰胺的替换。结合这两种突变的表型讨论了这些变化的功能意义。
