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Identification of cis-acting elements involved in an alternative splicing of the amyloid precursor protein (APP) gene
1Human Genome Center, University of Tokyo, Japan. asamis@hgc.ims.u-tokyo.ac.jp
Abstract:
Our previous study demonstrated that a cis-acting element for neuron-specific splicing of human amyloid precursor protein (APP) gene existed in an intron region flanking to exon 8 (Yamada et al., 1993). In this study, we extended the analysis by deletion and mutagenesis experiments and identified two distinct cis-acting elements which modulate the splicing of exon 8 of the APP gene in a sequence-dependent manner. Both elements are located at the just upstream region of the so-called branchpoint sequence, the first (ATGTTT) at -42 to -47 nt and the second (TTT) at -36 to -38 nt upstream from exon 8. Our study suggested that the first one is a positive element for the splicing of exon 8 and the second a negative one for the splicing.