Molecular mapping of point mutations in the period gene that stop or speed up biological clocks in Drosophila melanogaster.
Molecular mapping of point mutations in the period gene that stop or speed up biological clocks in Drosophila melanogaster.
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DOI：
10.1073/pnas.84.3.784
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发表时间：
1987-02
影响因子：
11.1
通讯作者：
Q. Yu;A. Jacquier;Y. Citri;M. Hamblen;J. C. Hall;M. Rosbash
中科院分区：
文献类型：
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作者：
Q. Yu;A. Jacquier;Y. Citri;M. Hamblen;J. C. Hall;M. Rosbash
黑腹果蝇的pero 1和pers突变似乎分别消除或加速了生物节律背后的时钟，它们被定位到单个核苷酸上。嵌合的DNA片段组成的明确定义的野生型加突变体的DNA亚段构建，引入到苍蝇的生殖系转化，并测定生物活性。这些实验将pero 1和pers定位于主要编码DNA的1.7-脱氢酶DNA片段。从每个突变体的这一亚段的测序表明，pero 1是完全占的无义突变的第三个编码外显子的4.5-β-淀粉酶RNA转录从这个位点。pers突变也是第四编码外显子中的单核苷酸取代，其导致每基因蛋白质产物中的丝氨酸至天冬酰胺取代。这些变化的功能意义进行了讨论，参考两个突变的表型。
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.