MiSynPat: an integrated knowledge base linking clinical, genetic, and structural data for disease-causing mutations in human mitochondrial aminoacyl-tRNA synthetases.
Fiche publication
Date publication
juin 2017
Journal
Human mutation
Auteurs
Membres identifiés du Cancéropôle Est :
Dr POCH Olivier
Tous les auteurs :
Moulinier L, Ripp R, Castillo G, Poch O, Sissler M
Lien Pubmed
Résumé
Numerous mutations in each of the mitochondrial aminoacyl-tRNA synthetases have been implicated in human diseases. The mutations are autosomal and recessive and lead mainly to neurological disorders, although with pleiotropic effects. The processes and interactions that drive the etiology of the disorders associated with mitochondrial aminoacyl-tRNA synthetases are far from understood. The complexity of the clinical, genetic and structural data requires concerted, interdisciplinary efforts to understand the molecular biology of these disorders. Towards this goal, we designed MiSynPat, a comprehensive knowledge base together with an ergonomic web server designed to organize and access all pertinent information (sequences, multiple sequence alignments, structures, disease descriptions, mutation characteristics, original literature) on the disease-linked human mitochondrial aminoacyl-tRNA synthetases. With MiSynPat, a user can also evaluate the impact of a possible mutation on sequence-conservation-structure in order to foster the links between basic and clinical researchers and to facilitate future diagnosis. The proposed integrated view, coupled with research on disease-related mitochondrial aminoacyl-tRNA synthetases, will help to reveal new functions for these enzymes and to open new vistas in the molecular biology of the cell. The purpose of MiSynPat, freely available at http://misynpat.org, is to constitute a reference and a converging resource for scientists and clinicians. This article is protected by copyright. All rights reserved.
Mots clés
3D structures, aminoacyl-tRNA synthetases, disease-causing mutations, knowledge base, mitochondrial disorders, sequence alignments
Référence
Hum. Mutat.. 2017 Jun;: