Mitochondrial localization of the OAS1 p46 isoform associated with a common single nucleotide polymorphism.

ABSTRACT:

Background

The expression of 2'-5'-Oligoadenylate synthetases (OASs) is induced by type 1 Interferons (IFNs) in response to viral infection. The OAS proteins have a unique ability to produce 2'-5' Oligoadenylates, which bind and activate the ribonuclease RNase L. The RNase L degrades cellular RNAs which in turn inhibits protein translation and induces apoptosis. Several single nucleotide polymorphisms (SNPs) in the OAS1 gene have been associated with disease. We have investigated the functional effect of two common SNPs in the OAS1 gene. The SNP rs10774671 affects splicing to one of the exons in the OAS1 gene giving rise to differential expression of the OAS1 isoforms, and the SNP rs1131454 (former rs3741981) resides in exon 3 giving rise to OAS1 isoforms with either a Glycine or a

SUBMITTER: Kjær KH 

PROVIDER: S-EPMC4165621 | biostudies-literature | 2014 Sep

REPOSITORIES: biostudies-literature