Journal article

Human RNA Nm-MTase FTSJ1: new tRNA targets and role in the regulation of brain-specific genes

Dilyana G Dimitrova, Mira Brazane, Tao Ye, Virginie Marchand, Elise Schaefer, Zornitza Stark, Martin Delatycki, Tracy Dudding, Jozef Gecz, Laure Teysset, Amélie Piton, Yuri Motorin, Clément Carré

Cold Spring Harbor Laboratory


ABSTRACTFTSJ1 is a phyllogenetically conserved human 2’-O-methyltransferase (Nm-MTase) which modifies position 32 as well as the wobble position 34 in the AntiCodon Loop (ACL) of specific tRNAs: tRNAPhe(GAA), tRNATrp(CCA) and tRNALeu(UAA). FTSJ1’s loss of function has been linked to Non-Syndromic X-Linked Intellectual Disability (NSXLID), and more recently in cancers. However, the exact molecular mechanisms underlying FTSJ1-related pathogenesis are unknown and a potential extended variety of FTSJ1’s tRNA targets hasn’t been fully addressed yet. We performed unbiased and comprehensive RiboMethSeq analysis of the Nm profiles for human tRNA population extracted from cells derived from NSXLID pa..

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