Journal article

The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance

Dilyana G Dimitrova, Mira Brazane, 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 Placais, Laure Teysset, Thomas Preat, Amélie Piton, Bassem A Hassan, Jean-Yves Roignant, Yuri Motorin Show all

Cold Spring Harbor Laboratory


ABSTRACTFTSJ1 is a conserved human 2’-O-methyltransferase (Nm-MTase) that modifies several transfer RNAs (tRNAs) at position 32 and the wobble position 34 in the AntiCodon Loop (ACL). Its loss of function has been linked to Non-Syndromic X-Linked Intellectual Disability (NSXLID), and more recently to cancers. However, the molecular mechanisms underlying these pathologies are currently unclear. Here we report a novel FTSJ1 pathogenic variant from a NSXLID 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 (Nm) on all tRNAs and identify novel ..

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