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General Information
Name
laminopathies
FlyBase ID
FBhh0000264
Disease Ontology Term
Parent Disease
OMIM
Overview

A number of disorders of cardiac and striated muscles, neuromuscular disorders, lipodystrophy syndromes, and premature aging syndromes are associated with mutations of the LMNA gene, which encodes lamins A and C, and are described as laminopathies. This report includes general information about laminopathies; reports on specific diseases that have been investigated in flies may be accessed via the links in the 'Related diseases' section, below.

[updated May 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: laminopathies
OMIM report
Human gene(s) implicated
Symptoms and phenotype
Genetics
Different mis-splicing events of the LMNA pre-mRNA are associated with different disorders.
Mutations in the human gene LMNA (Lamin A/C) are implicated in multiple diseases classified as laminopathies. [From OMIM:150330, 2016.05.23]
Cellular phenotype and pathology
Cells isolated from human and mouse tissue from the various laminopathies, all display abnormal nuclear structure. These phenotypes range from abnormal nuclear shape to nuclear blebbing and even dispersal of DNA into the cytoplasm.
Molecular information
The LMNA gene encodes lamin A and lamin C. Lamins are structural protein components of the nuclear lamina, a protein network underlying the inner nuclear membrane that determines nuclear shape and size. The lamins constitute a class of intermediate filaments. Three types of lamins, A, B (see LMNB1; OMIM:150340), and C, have been described in mammalian cells (Fisher et al., 1986, pubmed:3462705). [From OMIM:150330, 2016.05.23]
External links
Disease synonyms
Ortholog Information
Human gene(s) in FlyBase
Human gene (HGNC)
Symbol / Name
D. melanogaster ortholog (based on DIOPT)
Comments on ortholog(s)
Many to many: 3 human to 2 Drosophila.
Other mammalian ortholog(s) used
    D. melanogaster Gene Information (2)
    Gene Snapshot
    In progress.Contributions welcome.
    Gene Groups / Pathways
    Comments on ortholog(s)
    Ortholog of human LMNB2, LMNA, and LMNB1 (2 Drosophila to 3 human).
    Dmel\Lam shares 36% identity and 57% similarity with human LMNB2, 37% identity and 60% similarity with human LMNA, and 37% identity and 59% similarity with human LMNB1.
    Orthologs and Alignments from DRSC
    DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
    Gene Snapshot
    Lamin C (LamC) encodes a type V intermediate filament that is essential for development. It contributes to the shape and structural integrity of the nucleus and plays roles in genome integrity and gene regulation, through contacts made with chromatin. [Date last reviewed: 2019-03-14]
    Gene Groups / Pathways
    Comments on ortholog(s)
    Ortholog of human LMNB2, LMNA, and LMNB1 (2 Drosophila to 3 human).
    Dmel\LamC shares 38% identity and 58% similarity with human LMNB2, 35% identity and 54% similarity with human LMNA, and 37% identity and 58% similarity with human LMNB1.
    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 (32 groups)
    protein-protein
    Interacting group
    Assay
    References
    two hybrid, cosedimentation, western blot, inferred by author
    anti bait coimmunoprecipitation, Identification by mass spectrometry
    anti tag coimmunoprecipitation, anti tag western blot
    two hybrid, pull down, western blot
    two hybrid, experimental knowledge based
    pull down, anti tag western blot, anti bait coimmunoprecipitation, western blot, ion exchange chromatography, peptide massfingerprinting, anti tag coimmunoprecipitation
    anti bait coimmunoprecipitation, peptide massfingerprinting
    experimental knowledge based
    pull down, western blot, two hybrid, anti bait coimmunoprecipitation
    solid phase assay, anti bait coimmunoprecipitation, western blot, autoradiography
    anti bait coimmunoprecipitation, western blot, two hybrid
    experimental knowledge based
    anti bait coimmunoprecipitation, anti tag western blot, affinity chromatography technology, Identification by mass spectrometry
    anti bait coimmunoprecipitation, western blot
    two hybrid, anti tag coimmunoprecipitation, western blot, experimental knowledge based, anti bait coimmunoprecipitation
    affinity chromatography technology, Identification by mass spectrometry
    pull down, western blot, affinity chromatography technology, Identification by mass spectrometry
    experimental knowledge based
    experimental knowledge based
    anti bait coimmunoprecipitation, Identification by mass spectrometry
    anti tag coimmunoprecipitation, comigration in sds page, anti tag western blot
    experimental knowledge based
    anti bait coimmunoprecipitation, western blot, two hybrid
    anti tag coimmunoprecipitation, anti tag western blot
    pull down, western blot, anti bait coimmunoprecipitation, proximity ligation assay
    pull down, western blot
    RNA-protein
    Interacting group
    Assay
    References
    anti bait coimmunoprecipitation, quantitative reverse transcription pcr
    protein-protein
    Interacting group
    Assay
    References
    cosedimentation, western blot, inferred by author, two hybrid
    anti bait coimmunoprecipitation, western blot, two hybrid
    Alleles Reported to Model Human Disease (Disease Ontology) (11 alleles)
    Models Based on Experimental Evidence ( 7 )
    Modifiers Based on Experimental Evidence ( 2 )
    Models Based on Experimental Evidence ( 2 )
    Allele
    Disease
    Evidence
    References
    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
    loss of function allele
    P-element activity
    amorphic allele - genetic evidence
    P-element activity
    loss of function allele
    ethyl methanesulfonate
    amorphic allele - genetic evidence
    P-element activity
    loss of function allele
    X ray
    loss of function allele
    X ray
    loss of function allele
    ethyl methanesulfonate
    loss of function allele
    X ray
    amorphic allele - molecular evidence
    Delta2-3 transposase
    amorphic allele - molecular evidence
    Delta2-3 transposase
    References (18)