The expression of four pyridoxal kinase (PDXK) human variants in Drosophila impacts on genome integrity.

ABSTRACT: In eukaryotes, pyridoxal kinase (PDXK) acts in vitamin B₆ salvage pathway to produce pyridoxal 5'-phosphate (PLP), the active form of the vitamin, which is implicated in numerous crucial metabolic reactions. In Drosophila, mutations in the dPdxk gene cause chromosome aberrations (CABs) and increase glucose content in larval hemolymph. Both phenotypes are rescued by the expression of the wild type human PDXK counterpart. Here we expressed, in dPdxk¹ mutant flies, four PDXK human variants: three (D87H, V128I and H246Q) listed in databases, and one (A243G) found in a genetic screening in patients with diabetes. Differently from human wild type PDXK, none of the variants was able to completely rescue CABs and glucose content elicited by dPdxk¹ mutation. Biochem

SUBMITTER: Mascolo E 

PROVIDER: S-EPMC6775053 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature