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Hum Mutat. 2017 Oct;38(10):1316-1324. doi: 10.1002/humu.23277. Epub 2017 Jun 27.

MiSynPat: An integrated knowledge base linking clinical, genetic, and structural data for disease-causing mutations in human mitochondrial aminoacyl-tRNA synthetases.

Author information

1
CSTB Complex Systems and Translational Bioinformatics, ICube Laboratory and Strasbourg Federation of Translational Medicine (FMTS), CNRS, Université de Strasbourg, Strasbourg, France.
2
Université de Strasbourg, CNRS, Architecture et Réactivité de l'ARN, Strasbourg, France.

Abstract

Numerous mutations in each of the mitochondrial aminoacyl-tRNA synthetases (aaRSs) 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 aaRSs (mt-aaRSs) 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. Toward 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 mt-aaRSs. 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 mt-aaRSs, 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.

KEYWORDS:

3D structures; aminoacyl-tRNA synthetases; disease-causing mutations; knowledge base; mitochondrial disorders; sequence alignments

PMID:
28608363
PMCID:
PMC5638098
DOI:
10.1002/humu.23277
[Indexed for MEDLINE]
Free PMC Article

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