Aberrant splicing of proteolipid protein mRNA in the dysmyelinating jimpy mutant mouse.
Aberrant splicing of proteolipid protein mRNA in the dysmyelinating jimpy mutant mouse.
复制标题
髓鞘形成障碍 jimpy 突变小鼠中蛋白脂质蛋白 mRNA 的异常剪接。
DOI：
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发表时间：
1987
影响因子：
11.1
通讯作者：
R. Lazzarini
中科院分区：
文献类型：
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作者：
L. Hudson;J. Berndt;C. Puckett;C. Kozak;R. Lazzarini
从小鼠脑文库中分离编码蛋白脂质蛋白（PLP）的cDNA克隆并测序。我们描述了两个转录本所产生的PLP基因座通过选择性剪接：主要的一个编码的277个氨基酸的PLP蛋白和次要的一个对应于DM-20蛋白，PLP样蛋白的20,000先生，共享的氨基和羧基区域与PLP。这两个转录缺乏约70个碱基的PLP mRNA从髓鞘形成障碍jimpy突变。缺失跨越氨基酸208-232;然而，该区域存在于jimpy PLP编码基因中。我们建议，jimpy突变体遭受点突变或PLP基因中的几个碱基的缺失，改变了正常的剪接模式，并产生部分删除的PLP成绩单。
cDNA clones encoding proteolipid protein (PLP) were isolated from a mouse brain library and sequenced. We describe two transcripts arising from the PLP locus by alternative splicing: the major one encodes the 277-amino acid PLP protein and the minor one corresponds to the DM-20 protein, a PLP-like protein of 20,000 Mr that shares both amino and carboxyl regions with PLP. These two transcripts lack approximately 70 bases in PLP mRNA from the dysmyelinating jimpy mutant. The deletion spans amino acids 208-232; however, this region is present in the jimpy PLP-encoding gene. We propose that the jimpy mutant suffers a point mutation or the deletion of a few bases in the PLP gene that alters the normal splicing pattern and generates partially deleted PLP transcripts.