Li W, Herman R K, Shaw J E
Department of Genetics and Cell Biology, University of Minnesota, St. Paul 55108.
Genetics. 1992 Nov;132(3):675-89. doi: 10.1093/genetics/132.3.675.
Mutations in the unc-33 gene of the nematode Caenorhabditis elegans lead to severely uncoordinated movement, abnormalities in the guidance and outgrowth of the axons of many neurons, and a superabundance of microtubules in neuronal processes. We have cloned unc-33 by tagging the gene with the transposable element Tc4. Three unc-33 messages, which are transcribed from a genomic region of at least 10 kb, were identified and characterized. The three messages have common 3' ends and identical reading frames. The largest (3.8-kb) message consists of the 22-nucleotide trans-spliced leader SL1 and 10 exons (I-X); the intermediate-size (3.3-kb) message begins with SL1 spliced to the 5' end of exon V and includes exons V-X; and the smallest (2.8-kb) message begins within exon VII and also includes exons VIII-X. A gamma-ray-induced deletion mutation situated within exon VIII reduces the sizes of all three messages by 0.5 kb. The three putative polypeptides encoded by the three messages overlap in C-terminal sequence but differ by the positions at which their N termini begin; none has significant similarity to any other known protein. A Tc4 insertion in exon VII leads to alterations in splicing that result in three approximately wild-type-size messages: the Tc4 sequence and 28 additional nucleotides are spliced out of the two larger messages; the Tc4 sequence is trans-spliced off the smallest message such that SL1 is added 13 nucleotides upstream of the normal 5' end of the smallest message.
线虫秀丽隐杆线虫unc-33基因的突变会导致严重的运动不协调、许多神经元轴突的导向和生长异常,以及神经元突起中微管过多。我们通过用转座元件Tc4标记该基因克隆了unc-33。鉴定并表征了从至少10 kb的基因组区域转录而来的三种unc-33信使RNA。这三种信使RNA具有共同的3'末端和相同的阅读框。最大的(3.8 kb)信使RNA由22个核苷酸的反式剪接前导序列SL1和10个外显子(I-X)组成;中等大小的(3.3 kb)信使RNA从与外显子V的5'末端剪接的SL1开始,包括外显子V-X;最小的(2.8 kb)信使RNA在外显子VII内开始,也包括外显子VIII-X。位于外显子VIII内的γ射线诱导缺失突变使所有三种信使RNA的大小减少0.5 kb。由这三种信使RNA编码的三种推定多肽在C末端序列上重叠,但N末端开始的位置不同;没有一种与任何其他已知蛋白质有显著相似性。外显子VII中的Tc4插入导致剪接改变,产生三种近似野生型大小的信使RNA:Tc4序列和另外28个核苷酸从两个较大的信使RNA中剪接出来;Tc4序列从最小的信使RNA上反式剪接下来,使得SL1添加到最小信使RNA正常5'末端上游13个核苷酸处。