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果蝇肌联蛋白:与肌联蛋白和肌动蛋白的相关性以及与致死(4)102 CDa和弯曲显性突变体的关联。

Drosophila projectin: relatedness to titin and twitchin and correlation with lethal(4) 102 CDa and bent-dominant mutants.

作者信息

Fyrberg C C, Labeit S, Bullard B, Leonard K, Fyrberg E

机构信息

Department of Biology, Johns Hopkins University, Baltimore, Maryland 21218.

出版信息

Proc Biol Sci. 1992 Jul 22;249(1324):33-40. doi: 10.1098/rspb.1992.0080.

Abstract

We have investigated projectin, a large protein of insect muscles, in Drosophila melanogaster. The 5.3 kilobases of coding sequence reported here contains Class I and Class II motifs characteristic of titin and twitchin, arranged in a three domain ... [II-I-I] [II-I-I] ... pattern. Two mutants mapped to the location of the projectin gene in the 102C subdivision of chromosome 4, lethal(4) 102 CDa and bent-Dominant, have DNA rearrangements within their projectin gene. The lethal(4) 102 CDa mutant has a 141 nucleotide insertion containing stop codons in all three reading frames within an exon sequence, showing that it cannot synthesize normal projectin. Both bent-Dominant and lethal(4) 102 CDa homozygotes die at the completion of embryogenesis because they are unable to escape the egg vitelline membrane. We propose that this hatching failure is due to muscle weakness caused by projectin defects.

摘要

我们在黑腹果蝇中研究了昆虫肌肉中的一种大蛋白——肌联蛋白。此处报道的5.3千碱基编码序列包含肌联蛋白和肌动蛋白的I类和II类基序,排列成三个结构域……[II-I-I] [II-I-I]……模式。两个突变体定位于4号染色体102C亚区的肌联蛋白基因位置,即致死(4)102 CDa和弯曲显性,它们的肌联蛋白基因内存在DNA重排。致死(4)102 CDa突变体在外显子序列的所有三个阅读框中都有一个包含终止密码子的141核苷酸插入,表明它不能合成正常的肌联蛋白。弯曲显性和致死(4)102 CDa纯合子在胚胎发育完成时死亡,因为它们无法逃离卵黄膜。我们认为这种孵化失败是由于肌联蛋白缺陷导致的肌肉无力。

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