首页>
外国专利>
Modified human U1snRNA molecule, a gene encoding for the modified human U1snRNA molecule, an expression vector including the gene, and the use thereof in gene therapy of familial dysautonomia and spinal muscular atrophy
Modified human U1snRNA molecule, a gene encoding for the modified human U1snRNA molecule, an expression vector including the gene, and the use thereof in gene therapy of familial dysautonomia and spinal muscular atrophy
The invention provides a modified human U1snRNA molecule, capable of correcting the skipping of an exon caused by a mutation localized in the sequence comprised between 50 base pairs upstream and 20 base pairs downstream of an exon, wherein a portion of a single-stranded nucleotide sequence of the 5′ region of the wild-type human U1snRNA is replaced by a single-stranded binding nucleotide sequence, wherein the binding nucleotide sequence is selected from the group consisting of: uggcgcuua, aauggcgcu, aguacaauggcgc (SEQ ID NO: 87), gcaaacaguacaau (SEQ ID NO: 88), ucgcaaacaguaca (SEQ ID NO: 89), gcaaacagu, cuagucgcaaac (SEQ ID NO: 90), uacaaaaguaagauuca (SEQ ID NO: 83), aaaccauaaaguuuuacaa (SEQ ID NO: 84) and caaaccauaaaguuuua (SEQ ID NO: 96).
展开▼
机译：本发明提供了修饰的人U1snRNA分子，其能够校正由位于外显子的上游50个碱基对和下游20个碱基对之间的序列中的突变所致的外显子的跳跃，其中一部分单链核苷酸序列用单链结合核苷酸序列代替野生型人U1snRNA 5'区域的一部分，其中结合核苷酸序列选自：uggcgcuua，aauggcgcu，aguacaauggcgc（SEQ ID NO：87），gcaaacaguaguaau （SEQ ID NO：88），ucgcaaacaguacaca（SEQ ID NO：89），gcaaacagu，cuagucgcaaac（SEQ ID NO：90），uacaaaaguaagauuuca（SEQ ID NO：83），aaacaauaaaaguuuuacaa（SEQ ID NO：84）和caaaccauaaaguguuuua（SEQ ID NO：84）编号：96）。
展开▼
