Pathogenesis of bacterial infections and immunity

@article{,

title = {A pathogenesis-associated mutation in human mitochondrial tRNALeu(UUR) leads to reduced 3'-end processing and CCA addition},

author = {L Levinger and I Oestreich and C Florentz and M Morl},

url = {http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15019775},

isbn = {15019775},

year  = {2004},

date = {2004-01-01},

journal = {J Mol Biol},

volume = {337},

number = {3},

pages = {535-544},

abstract = {Point mutations in mitochondrial tRNAs can cause severe multisystemic disorders such as mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) and myoclonus epilepsy with ragged-red fibers (MERRF). Some of these mutations impair one or more steps of tRNA maturation and protein biosynthesis including 5'-end-processing, post-transcriptional base modification, structural stability, aminoacylation, and formation of tRNA-ribosomal complexes. tRNALeu(UUR), an etiologic hot spot for such diseases, harbors 20 of more than 90 disease-associated mutations described to date. Here, the pathogenesis-associated base substitutions A3243G, T3250C, T3271C, A3302G and C3303T within this tRNA were tested for their effects on endonucleolytic 3'-end processing and CCA addition at the tRNA 3'-terminus. Whereas mutations A3243G, A3302G and C3303T reduced the efficiency of 3'-end cleavage, only the C3303T substitution was a less efficient substrate for CCA addition. These results support the view that pathogenesis may be elicited through cumulative effects of tRNA mutations: a mutation can impede several pre-tRNA processing steps, with each such reduction contributing to the overall impairment of tRNA function.},

note = {0022-2836 

Journal Article},

keywords = {FLORENTZ, FLORENTZ  Human  Kinetics  Mitochondrial Diseases/*genetics  Nucleic Acid Conformation  *Point Mutation  RNA/*genetics/physiology  *RNA 3' End Processing  RNA Nucleotidyltransferases/metabolism  RNA, Leu/*genetics/physiology  Support, Non-U.S. Gov't  Support, P.H.S., Transfer, U.S. Gov't, Unité ARN},

pubstate = {published},

tppubtype = {article}

}