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General Information
Name
neuromuscular disease, MARS2-related
FlyBase ID
FBhh0000575
Disease Ontology Term
Parent Disease
OMIM
Overview

This report describes neuromuscular disease, MARS2-related, which includes diseases associated with the human gene MARS2, a nuclear gene that encodes a mitochondrial methionyl-tRNA synthetase protein. There is a single fly ortholog, MetRS-m, for which loss-of-function alleles, RNAi targeting constructs, and alleles caused by insertional mutagenesis have been generated.

Lesions in MARS2 that result in symptoms of spastic ataxia 3 (OMIM:611390; FBhh0000448) usually involve genomic rearrangements. Based on one family, compound heterozygous (recessive) mutation of MARS2 has been implicated in combined oxidative phosphorylation deficiency 1 (OMIM:616430).

UAS constructs of the human gene, Hsap\MARS2, have been introduced into flies; heterologous rescue (functional complementation) has been demonstrated.

Missense mutations of Dmel\MetRS-m were initially isolated as part of a screen for mutations causing aberrant electroretinograms that significantly worsen with age, indicating degeneration of photoreceptors. Animals homozygous for these alleles have shorter lifespans than wild-type flies and are unable to fly. Myofibrils in the indirect flight muscles exhibit a mitochondrial defect which leads to progressive degeneration of the muscle. More severe genotypes (missense mutation over deficiency) are lethal during larval and pupal stages. Physical interactions of Dmel\MetRS-m have been described; see below and in the gene report for MetRS-m.

[updated Jul. 2017 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: neuromuscular disease, MARS2-related
OMIM report
Human gene(s) implicated
Symptoms and phenotype
Genetics
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
Ortholog Information
Human gene(s) in FlyBase
Human gene (HGNC)
D. melanogaster ortholog (based on DIOPT)
Comments on ortholog(s)

One to one: 1 human to 1 Drosophila.

Other mammalian ortholog(s) used
    D. melanogaster Gene Information (1)
    Cellular component (GO)
    Gene Groups / Pathways
    Comments on ortholog(s)

    High-scoring ortholog of human MARS2 gene (1 Drosophila to 1 human). Dmel\MetRS-m shares 45% identity and 61% similarity with human MARS2.

    Orthologs and Alignments from DRSC
    DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
    Synthetic Gene(s) Used (0)
    Summary of Physical Interactions (2 groups)
    protein-protein
    Interacting group
    Assay
    References
    experimental knowledge based
    experimental knowledge based
    Alleles Reported to Model Human Disease (Disease Ontology) (3 alleles)
    Models Based on Experimental Evidence ( 3 )
    Modifiers Based on Experimental Evidence ( 0 )
    Allele
    Disease
    Interaction
    References
    Genetic Tools, Stocks and Reagents
    Sources of Stocks
    Contact lab of origin for a reagent not available from a public stock center.
    Bloomington Stock Center Disease Page
    Selected mammalian transgenes
    Allele
    Transgene
    Publicly Available Stocks
    Selected Drosophila transgenes
    Allele
    Transgene
    Publicly Available Stocks
    RNAi constructs available
    Allele
    Transgene
    Publicly Available Stocks
    Selected Drosophila classical alleles
    Allele
    Allele class
    Mutagen
    Publicly Available Stocks
    References (8)