Tuesday, February 11, 2020

Loss of mitochondrial localization of human FANCG causes defective FANCJ helicase

Sudit S Mukhopadhyay, Jagadeesh Chandra Bose K, Bishwajit Singh Kapoor, Kamal Mandal, Subhrima Ghosh, Raveendra B Mokhamatam, Sunil K Manna; bioRxiv 2020.01.15.907303; doi:10.1101/2020.01.15.907303

Mitochondrial instability in the FANCGR22P cell causes the transcriptional down-regulation of mitochondrial iron-sulphur cluster biogenesis protein Frataxin (FXN) and resulting iron deficiency of FA protein FANCJ, an iron-sulphur containing helicase involved in DNA repair.


Despite of DNA repair ability the Fanconi anemia mutant protein FANCGR22P destabilizes mitochondria and leads to genomic instability via FANCJ helicase . Preprint from bioRxiv, 15 Jan 2020
DOI: 10.1101/2020.01.15.907303