Splice processes in the neurofibromatosis type 1 (NF 1) gene: relevance and evolution
LicenseStandard (Fassung vom 03.05.2003)
In this study two different effects of the splice process, aberrant and alternative splicing, on the function of the tumor suppressor protein neurofibromin were investigated. Aberrant splicing was found to be elevated in tumor tissues and may therefore be involved in tumor progression. A previously unknown alternative exon of NF1 was identified which codes for a transmembrane domain thereby conveying a new function to neurofibromin. Looking for mechanisms regulating alternative splicing it was found that intron sequences surrounding alternative exons are highly conserved in evolution and may play an important role in this regulation.
Subject HeadingsExon [GND]
Genes, neurofibromatosis 1 [MeSH]
Neurofibromin 1 [MeSH]