Mira Brazane, Dilyana G Dimitrova, Julien Pigeon, Chiara Paolantoni, Tao Ye, Virginie Marchand, Bruno Da Silva, Elise Schaefer, Margarita T Angelova, Zornitza Stark, Martin Delatycki, Tracy Dudding-Byth, Jozef Gecz, Pierre-Yves Plaçais, Laure Teysset, Thomas Préat, Amélie Piton, Bassem A Hassan, Jean-Yves Roignant, Yuri Motorin, Clément Carré
FTSJ1 is a conserved human 2'-O-methyltransferase (Nm-MTase) that modifies several tRNAs at position 32 and the wobble position 34 in the anticodon loop. Its loss of function has been linked to X-linked intellectual disability (XLID), and more recently to cancers. However, the molecular mechanisms underlying these pathologies are currently unclear. Here, we report a novel FTSJ1 pathogenic variant from an X-linked intellectual disability patient. Using blood cells derived from this patient and other affected individuals carrying FTSJ1 mutations, we performed an unbiased and comprehensive RiboMethSeq analysis to map the ribose methylation on all human tRNAs and identify novel targets...
April 2023: Life Science Alliance