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Titolo:
Disease-related versus polymorphic mutations in human mitochondrial tRNAs - Where is the difference?
Autore:
Florentz, C; Sissler, M;
Indirizzi:
Inst Biol Mol & Cellulaire, Dept Mecanismes & Macromol Synth Prot & Cristallo, CNRS, UPR 9002, F-67084 Strasbourg, France Inst Biol Mol & CellulaireStrasbourg France F-67084 Strasbourg, France
Titolo Testata:
EMBO REPORTS
fascicolo: 6, volume: 2, anno: 2001,
pagine: 481 - 486
SICI:
1469-221X(200106)2:6<481:DVPMIH>2.0.ZU;2-G
Fonte:
ISI
Lingua:
ENG
Soggetto:
TRANSFER-RNAS; GENOME; TRNA(LEU(UUR)); AMINOACYLATION; PATHOGENESIS; TRNA(LYS); EVOLUTION; FEATURES; PATTERNS; SEARCH;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
25
Recensione:
Indirizzi per estratti:
Indirizzo: Florentz, C Inst Biol Mol & Cellulaire, Dept Mecanismes & Macromol Synth Prot & Cristallo, CNRS, UPR 9002, 15 Rue Rene Descartes, F-67084 Strasbourg,France Inst Biol Mol & Cellulaire 15 Rue Rene Descartes Strasbourg FranceF-67084
Citazione:
C. Florentz e M. Sissler, "Disease-related versus polymorphic mutations in human mitochondrial tRNAs - Where is the difference?", EMBO REP, 2(6), 2001, pp. 481-486

Abstract

A number of point mutations in human mitochondrial (mt) tRNA genes are correlated with a variety of neuromuscular and other severe disorders including encephalopathies, myopathies, cardiopathies and diabetes. The complexity of the genotype/phenotype relationships, the diversity of possible molecular impacts of the different mutations at the tRNA structure/function levels,and the exponential discovery of new mutations call for the search for unifying features. Here, the basic features (at the levels of primary and secondary structure) of 68 'pathogenic' mutations are compared with those of 64'polymorphic' neutral mutations, revealing that these standard parameters for mutant analysis are not sufficient to predict the pathogenicity of mt tRNA mutations. Thus, case by case molecular investigation remains the only means of assessing the growing family of pathogenic mutations in mt tRNAs. New lines of research are suggested.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 23/01/20 alle ore 03:57:50