Ebersole T A, Chen Q, Justice M J, Artzt K
Department of Zoology, The University of Texas at Austin, 78712-1064, USA.
Nat Genet. 1996 Mar;12(3):260-5. doi: 10.1038/ng0396-260.
The mouse quaking gene, essential for nervous system myelination and survival of the early embryo has been positionally cloned. Its sequence implies that the locus encodes a multifunctional gene used in a specific set of developing tissues to unite signal transduction with some aspect of RNA metabolism. The quaking(viable) (qkv) mutation has one class of messages truncated by a deletion. An independent ENU-induced mutation has a nonconservative amino acid change in one of two newly identified domains that are conserved from the C. elegans gld-1 tumour suppressor gene to the human Src-associated protein Sam68. The size and conservation of the quaking gene family implies that the pathway defined by this mutation may have broad relevance for rapid conveyance of extracellular information directly to primary gene transcripts.
对早期胚胎的神经系统髓鞘形成和存活至关重要的小鼠震颤基因已被定位克隆。其序列表明该基因座编码一个多功能基因,该基因在一组特定的发育组织中用于将信号转导与RNA代谢的某些方面结合起来。震颤(存活)(qkv)突变有一类信息因缺失而被截断。一个独立的ENU诱导突变在两个新发现的结构域之一中有一个非保守氨基酸变化,这两个结构域从秀丽隐杆线虫的gld-1肿瘤抑制基因到人类Src相关蛋白Sam68都是保守的。震颤基因家族的大小和保守性表明,由该突变定义的途径可能与将细胞外信息直接快速传递到初级基因转录本具有广泛的相关性。