Open Close
General Information
Name
muscular dystrophy, POMT1-related
FlyBase ID
FBhh0000195
Disease Ontology Term
Parent Disease
OMIM
Overview

In humans, multiple genes have been implicated in muscular dystrophy (MD); in addition, in most cases, any specific gene is implicated in multiple forms of the disease. This report describes fly models of muscular dystrophy related to the human gene POMT1 (protein-O-mannosyltransferase 1); see the OMIM report for the POMT1 gene (OMIM:607423). There is a single fly ortholog, Dmel\rt, for which for which classical hypomorphic alleles, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated.

The human POMT1 gene has not been introduced into flies.

Hypomorphic mutations of rt are semi-lethal; muscle defects are observed in larvae; progress locomotion defects are observed in adults. Genetic interactions with other MD-associated fly orthologs (tw and Dg) have been characterized.

[updated Mar. 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: muscular dystrophy, POMT1-related
OMIM report
Human gene(s) implicated
Symptoms and phenotype
Genetics

A form of limb-girdle muscular dystrophy-dystroglycanopathy (type C1; MDDGC1; OMIM:609308) is caused by homozygous or compound heterozygous mutation in the POMT1 gene. Several more severe types of muscular dystrophy are also associated with the POMT1 gene (OMIM:613155, OMIM:236670). [from OMIM:607423; 2016.03.16]

Cellular phenotype and pathology
Molecular information

The POMT1 and POMT2 proteins are O-mannosyltransferases that catalyze the first step in the synthesis of the O-mannosyl glycan found on alpha-dystroglycan (DAG1) (summary by van Reeuwijk et al., 2005; pubmed:15894594). [from OMIM:607439; 2016.03.16]

Transfers mannosyl residues to the hydroxyl group of serine or threonine residues; requires interaction with the product of the POMT2 gene for enzymatic function; localizes to the membrane of the endoplasmic reticulum. [from Gene Cards; POMT1; 2016.03.25]

External links
Disease synonyms
muscular dystrophy-dystroglycanopathy (limb-girdle), type C1
MDDGC1
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B1
MDDGB1
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
MDDGA1
Walker-Warburg syndrome
WWS
limb-girdle muscular dystrophy
muscular dystrophy-dystroglycanopathy
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)
      Gene Snapshot
      rotated abdomen (rt) encodes a protein that transfers a mannose to the Ser/Thr residues of the product of Dg, via forming an heterodimer with the product of tw. Its roles include myogenesis, muscle architecture and cell adhesion. [Date last reviewed: 2019-03-14]
      Gene Groups / Pathways
      Comments on ortholog(s)

      High-scoring ortholog of human POMT1 gene (1 Drosophila to 1 human). Dmel\rt shares 42% identity and 62% similarity with the human gene.

      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 (1 groups)
      RNA-RNA
      Interacting group
      Assay
      References
      luminiscence technology
      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
      P-element activity
      References (12)