Purification and validation of asparaginyl-tRNA synthetase heterodimer with indistinguishable subunits.

ABSTRACT: Oligomerization can influence the stability and activity of a protein. The majority of enzymes, including aminoacyl-tRNA synthetases, become catalytically active upon forming homodimers. Residues located at the dimerization interface are highly conserved and mutations arising within can cause severe disease phenotypes. Beyond homozygous mutations, other disease-causing mutations, such as compound heterozygous and mono-allelic mutations, can lead to the formation of heterodimers between two distinct subunits. Purifying a recombinant heterodimer is required for its thorough characterization in vitro, yet there is a lack of established biochemical methods for the preparation. Here we describe a heterodimer purification and validation method with the example of a disease-causing mono-allelic,

SUBMITTER: Vallee I 

PROVIDER: S-EPMC11864589 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature