Article
A homozygous mutation in the human selenocysteine tRNA gene impairs UGA recoding activity and selenoproteome regulation by selenium.
Nucleic acids research - 11 Aug 2023
Vindry Caroline, Guillin Olivia, Wolff Philippe, Marie Paul, Mortreux Franck, Mangeot Philippe E, Ohlmann Théophile, Chavatte Laurent
Abstract excerpt
The selenocysteine (Sec) tRNA (tRNA[Ser]Sec) governs Sec insertion into selenoproteins by the recoding of a UGA codon, typically used as a stop codon. A homozygous point mutation (C65G) in the human tRNA[Ser]Sec acceptor arm has been reported by two independent groups and was associated with symptoms such as thyroid dysfunction and low blood selenium levels; however, the extent of altered selenoprotein synthesis...
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