Mutación funcional APP

Abstract:

A novel deletion of 6 bp was found in intron 17 of APP gene. Bio-informatics tools pbkp_redict that this mutation could be altering splicing pattern since it overlaps with potential branch points, enhancer motifs, potential acceptors and donators of splice sites. Minigene splicing analyses in COS-7 and BE (2)-C cells were performed in order to identify changes in the expression of exon 17. The results showed that intron 16 and 17 were correctly removed while exon 17 was retained in both cell lines. This could be inferring several things: a) The mutation is not protecting the patient from AD due to its location in an intronic region. b) The efficiency of bio-informatic tools pbkp_rediction of the impact of the deletion in degenerated positions was low and inaccurate. c) The mutation could be interfering with the isoform ratio production. That is if the deletion is part of splicing motifs, trans-acting splicing elements could be delayed at the …

Año de publicación:

2014

Keywords:

Fuente:

google