Modified human RNAnpU1 molecule, gene coding for the modified human RNAnpU1 molecule, expression vector that includes the gene and its use in gene therapy

摘要

A modified human RNAnpU1 molecule, which can correct the jump of an exon caused by a mutation located in the sequence between 50 base pairs in the 5 'direction and 20 base pairs in the 3' sense of an exon, the modified human RNAnpU1 molecule being characterized in that a part of the single stranded nucleotide sequence of the 5 'region of the wild human RNAnpU1 is replaced by a single stranded nucleotide binding sequence that can hybridize with a target nucleotide sequence in the pre-mRNA transcribed from a target gene of therapeutic interest that carries a mutation that induces exon skipping, which is selected from the group consisting of mutations in the sequence between 50 base pairs in the 5 'direction and 20 base pairs in the sense 3 'of an exon, the target sequence being located in a pre-mRNA region of the target gene comprised between 2 and 50 base pairs in the 3' direction of a site d and exon / intron junction, whose splicing is affected by said mutation.