Genomewide analysis of inherited variation associated with phosphorylation of PI3K/AKT/mTOR signaling proteins.

ABSTRACT: While there exists a wealth of information about genetic influences on gene expression, less is known about how inherited variation influences the expression and post-translational modifications of proteins, especially those involved in intracellular signaling. The PI3K/AKT/mTOR signaling pathway contains several such proteins that have been implicated in a number of diseases, including a variety of cancers and some psychiatric disorders. To assess whether the activation of this pathway is influenced by genetic factors, we measured phosphorylated and total levels of three key proteins in the pathway (AKT1, p70S6K, 4E-BP1) by ELISA in 122 lymphoblastoid cell lines from 14 families. Interestingly, the phenotypes with the highest proportion of genetic influence were the ratios of phosphorylat

SUBMITTER: Hutz JE 

PROVIDER: S-EPMC3176272 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature