Characterization of a novel splicing variant in the RAPTOR gene.

ABSTRACT: The mammalian target of rapamycin (mTOR) plays an essential role in the regulation of cell growth, proliferation and apoptosis. Raptor, the regulatory associated protein of mTOR, is an important member in this signaling pathway. In the present report,we identified and characterized a novel splicing variant of this gene, RAPTOR v2, in which exons 14-17, 474 bp in total, are omitted from the mRNA. This deletion does not change the open reading frame, but causes a nearly complete absence of HEAT repeats, which were shown to be involved in the binding of mTOR substrates. Real time PCR performed on 48 different human tissues demonstrated the ubiquitous presence of this splice variant. Quantification of mRNA levels in lymphoblastoid cell lines (LCL) from 56 unrelated HapMap individuals revealed

SUBMITTER: Sun C 

PROVIDER: S-EPMC2724650 | biostudies-literature | 2009 Mar

REPOSITORIES: biostudies-literature