Analysis of dominant mutations affecting muscle excitation in Caenorhabditis elegans.
Analysis of dominant mutations affecting muscle excitation in Caenorhabditis elegans.
复制标题
影响秀丽隐杆线虫肌肉兴奋的显性突变分析。
DOI：
10.1093/genetics/141.3.961
复制
发表时间：
1995
期刊：
影响因子：
3.3
通讯作者：
Thomas,JH
中科院分区：
文献类型：
--
作者：
Reiner,DJ;Weinshenker,D;Thomas,JH
我们检查了破坏秀丽隐杆线虫肌肉激活的突变。其中 17 个基因中的 15 个先前已被识别，我们描述了其中 3 个基因的新突变。我们还描述了两个新基因 exp-3 和 exp-4 的突变。我们评估了每种基因突变动物的咽部、体壁、产卵和肠肌激活的缺陷程度。所有 17 个基因的突变都是半显性的，并且在可以测试的情况下，似乎是功能获得性的。根据其表型，这些基因分为三大类：11 个基因的突变导致肌肉激活缺陷，4 个基因的突变导致肌肉过度激活，2 个基因的突变导致某些肌肉类型激活缺陷和其他肌肉类型过度激活。在所有可测试的情况下，突变阻止了对产卵药理激活剂的反应，但没有阻止激光微束照射引起的肌肉激活。数据表明这些突变影响肌肉兴奋，但不影响肌纤维收缩的能力。对于大多数基因来说，明显的功能丧失突变体具有明显的野生型表型。这些观察结果表明，有一大群在肌肉兴奋中发挥作用的基因主要可以通过显性突变来识别。
We examined mutations that disrupt muscle activation in Caenorhabditis elegans. Fifteen of 17 of these genes were identified previously and we describe new mutations in three of them. We also describe mutations in two new genes, exp-3 and exp-4. We assessed the degree of defect in pharyngeal, body-wall, egg-laying, and enteric muscle activation in animals mutant for each gene. Mutations in all 17 genes are semidominant and, in cases that could be tested, appear to be gain-of-function. Based on their phenotypes, the genes fall into three broad categories: mutations in 11 genes cause defective muscle activation, mutations in four genes cause hyperactivated muscle, and mutations in two genes cause defective activation in some muscle types and hyperactivation in others. In all testable cases, the mutations blocked response to pharmacological activators of egg laying, but did not block muscle activation by irradiation with a laser microbeam. The data suggest that these mutations affect muscle excitation, but not the capacity of the muscle fibers to contract. For most of the genes, apparent loss-of-function mutants have a grossly wild-type phenotype. These observations suggest that there is a large group of genes that function in muscle excitation that can be identified primarily by dominant mutations.