Bahri S M, Chia W
Institute of Molecular and Cell Biology, National University of Singapore.
Mol Gen Genet. 1994 Dec 1;245(5):588-97. doi: 10.1007/BF00282221.
Partial and total loss of function mutant alleles of a putative Drosophila homologue (DPhK-gamma) of the vertebrate phosphorylase kinase gamma-subunit gene have been isolated. DPhK-gamma is required in early embryonic processes, such as gastrulation and mesoderm formation; however, defects in these processes are seen only when both the maternal and zygotic components of DPhK-gamma expression are eliminated. Loss of zygotic expression alone does not appear to affect normal embryonic and larval development; some pupal lethality is observed but the majority of mutant animals eclose as adults. Many of these adults show defects in their leg musculature (e.g. missing and degenerating muscles), in addition to exhibiting melanised "tumours" on their leg joints. Loss of only the maternal component has no obvious phenotypic consequences. The DPhK-gamma gene has been cloned and sequenced. It has an open reading frame (ORF) of 1680 bp encoding a 560 amino acid protein. The predicted amino acid sequence of DPhK-gamma has two conserved domains, the catalytic kinase and calmodulin-binding domains, separated by a linker sequence. The amino acid sequence of DPhK-gamma is homologous to that of mammalian PhK-gamma proteins but differs in the length and amino acid composition of its linker sequence. The expression of DPhK-gamma mRNA is developmentally regulated. We discuss the implications of these observations.
已分离出脊椎动物磷酸化酶激酶γ亚基基因假定的果蝇同源物(DPhK-γ)的功能部分丧失和完全丧失的突变等位基因。DPhK-γ在早期胚胎发育过程中是必需的,如原肠胚形成和中胚层形成;然而,只有当DPhK-γ表达的母体和合子成分都被消除时,才会在这些过程中出现缺陷。仅合子表达的丧失似乎不会影响正常的胚胎和幼虫发育;观察到一些蛹期致死现象,但大多数突变动物能羽化为成虫。许多这些成虫除了在腿部关节处出现黑化的“肿瘤”外,其腿部肌肉组织也有缺陷(如肌肉缺失和退化)。仅母体成分的丧失没有明显的表型后果。DPhK-γ基因已被克隆和测序。它有一个1680 bp的开放阅读框(ORF),编码一个560个氨基酸的蛋白质。预测的DPhK-γ氨基酸序列有两个保守结构域,即催化激酶结构域和钙调蛋白结合结构域,由一个连接序列隔开。DPhK-γ的氨基酸序列与哺乳动物PhK-γ蛋白的序列同源,但其连接序列的长度和氨基酸组成不同。DPhK-γ mRNA的表达受发育调控。我们讨论了这些观察结果的意义。