Levin J Z, Horvitz H R
Howard Hughes Medical Institute, Department of Biology, Massachusetts Institute of Technology, Cambridge 02139.
Genetics. 1993 Sep;135(1):53-70. doi: 10.1093/genetics/135.1.53.
We are studying five interacting genes involved in the regulation or coordination of muscle contraction in Caenorhabditis elegans. A distinctive "rubber-band" muscle-defective phenotype was previously shown to result from rare altered-function mutations in either of two of these genes, unc-93 and sup-10. null mutations in sup-9, sup-10, sup-18 or unc-93 act as essentially recessive suppressors of these rubber-band mutations. In this work, we identify three new classes of sup-9 alleles: altered-function rubber-band, partial loss-of-function and dominant-suppressor. The existence of rubber-band mutations in sup-9, sup-10 and unc-93 and the suppression of these mutations by null mutations in any of these three genes suggest that these proteins are required at the same step in muscle contraction. Moreover, allele-specific interactions shown by the partial loss-of-function mutations indicate that the products of these interacting genes may physically contact each other in a multiple subunit protein complex. Finally, the phenotypes of double rubber-band mutant combinations suggest that the rubber-band mutations affect a neurogenic rather than a myogenic input in excitation-contraction coupling in muscle.
我们正在研究秀丽隐杆线虫中参与肌肉收缩调节或协调的五个相互作用基因。先前已表明,一种独特的“橡皮筋”肌肉缺陷表型是由这两个基因(unc-93和sup-10)中任何一个的罕见功能改变突变导致的。sup-9、sup-10、sup-18或unc-93的无效突变基本上作为这些橡皮筋突变的隐性抑制因子起作用。在这项工作中,我们鉴定出sup-9等位基因的三类新类型:功能改变的橡皮筋型、部分功能丧失型和显性抑制型。sup-9、sup-10和unc-93中存在橡皮筋突变,以及这三个基因中任何一个的无效突变对这些突变的抑制作用,表明这些蛋白质在肌肉收缩的同一步骤中是必需的。此外,部分功能丧失突变所显示的等位基因特异性相互作用表明,这些相互作用基因的产物可能在多亚基蛋白质复合物中相互物理接触。最后,双橡皮筋突变体组合的表型表明,橡皮筋突变影响肌肉兴奋-收缩偶联中的神经源性而非肌源性输入。