Human transfer RNA modopathies: diseases caused by aberrations in transfer RNA modifications
نویسندگان
چکیده
منابع مشابه
Transfer RNA and human disease
Pathological mutations in tRNA genes and tRNA processing enzymes are numerous and result in very complicated clinical phenotypes. Mitochondrial tRNA (mt-tRNA) genes are "hotspots" for pathological mutations and over 200 mt-tRNA mutations have been linked to various disease states. Often these mutations prevent tRNA aminoacylation. Disrupting this primary function affects protein synthesis and t...
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and tumors is presented. Such differences have been observed in the early stages of sea urchin development and between tumors and their tissues of origin. In particular, the meaning of differences found between tRNA from Morris hepatomas and normal rat liver is discussed. Evidence is presented that tRNA synthesis in mammaliam cells proceeds via a short-lived precursor state and that the finishe...
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Eight different human ovarian carcinomas were shown to have 2 to 25 times higher transfer RNA methylase-specific activity and transfer RNA methylating capacity than do normal ovarian tissues. The more rapidly metastasizing, poorly differentiated carcinomas had higher transfer RNA methylase activity than did slower metastasizing, well-dif ferentiated, and intermediately differentiated carcinomas...
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Assays were performed that measured both the rate and extent (or total capacity) of transfer RNA methylases in extracts of lymphocytes cultured in the presence and absence of phytohemagglutinin (PHA). The tRNA methylases of human peripheral blood lymphocytes undergoing blastogenesis in culture with PHA had a fiveto sixfold increase in rate and a threeto sevenfold increase in extent of methylati...
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Human RNA methyltransferase BCDIN3D is overexpressed in breast cancer cells, and is related to the tumorigenic phenotype and poor prognosis of breast cancer. Here, we show that cytoplasmic tRNAHis is the primary target of BCDIN3D in human cells. Recombinant human BCDIN3D, expressed in Escherichia coli, monomethylates the 5΄-monophosphate of cytoplasmic tRNAHis efficiently in vitro. In BCDN3D-kn...
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ژورنال
عنوان ژورنال: The FEBS Journal
سال: 2021
ISSN: 1742-464X,1742-4658
DOI: 10.1111/febs.15736