The quaking gene product necessary in embryogenesis and myelination combines features of RNA binding and signal transduction proteins
The quaking gene product necessary in embryogenesis and myelination combines features of RNA binding and signal transduction proteins
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DOI：
10.1038/ng0396-260
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发表时间：
1996-03-01
期刊：
影响因子：
30.8
通讯作者：
Artzt, K
中科院分区：
文献类型：
--
作者：
Ebersole, TA;Chen, Q;Artzt, K
对神经系统髓鞘形成和早期胚胎存活至关重要的小鼠颤抖基因已经被定位克隆。它的序列意味着该基因编码了一种多功能基因，用于一组特定的发育组织，将信号转导与RNA新陈代谢的某些方面结合起来。抖动(存活)(qk(V))突变有一类消息被删除截断。一个独立的ENU诱导的突变在两个新发现的结构域中的一个发生了非保守的氨基酸变化，这两个结构域从线虫GLD-1肿瘤抑制基因保守到人类Src相关蛋白Sam68。颤抖基因家族的大小和保守性表明，该突变所定义的途径可能与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。
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) (qk(v)) 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.