Evolutionary and structural annotation of disease-associated mutations in human aminoacyl-tRNA synthetases.

ABSTRACT:

Background

Mutation(s) in proteins are a natural byproduct of evolution but can also cause serious diseases. Aminoacyl-tRNA synthetases (aaRSs) are indispensable components of all cellular protein translational machineries, and in humans they drive translation in both cytoplasm and mitochondria. Mutations in aaRSs have been implicated in a plethora of diseases including neurological conditions, metabolic disorders and cancer.

Results

We have developed an algorithmic approach for genome-wide analyses of sequence substitutions that combines evolutionary, structural and functional information. This pipeline enabled us to super-annotate human aaRS mutations and analyze their linkage to health disorders. Our data suggest that in some but not all cases, aaRS mutations occur in fun

SUBMITTER: Datt M 

PROVIDER: S-EPMC4298046 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature