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 POMT2 (protein-O-mannosyltransferase 2); see the OMIM report for the POMT2 gene (MIM:607439). There is a single fly ortholog, Dmel\tw, for which for which classical hypomorphic alleles, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated.
The human POMT2 gene has not been introduced into flies.
Animals with reduced function of Dmel\tw (due hypomorphic mutation or effected by RNAi) have reduced survival to adulthood, reduced lifespans, and exhibit progressive locomotor defects. Genetic interactions with other MD-associated fly orthologs (rt and Dg) have been characterized.
[updated Mar. 2016 by FlyBase; FBrf0222196]
A form of limb-girdle muscular dystrophy-dystroglycanopathy (type C2; MDDGC2; MIM:613158) is caused by homozygous or compound heterozygous mutation in the POMT2 gene. Several more severe types of muscular dystrophy are also associated with the POMT2 gene (MIM:613150, MIM:613156). [from MIM:613158, MIM:607439; 2016.03.11]
Transfers mannosyl residues to the hydroxyl group of serine or threonine residues; requires interaction with the product of the POMT1 gene for enzymatic function; localizes to the membrane of the endoplasmic reticulum. [from Gene Cards; POMT2; 2016.03.25]
The POMT2 gene encodes an integral membrane protein of the endoplasmic reticulum (ER). 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 MIM:607439; 2016.03.16]
One to one: 1 human to 1 Drosophila.
High-scoring ortholog of human POMT2 gene (1 Drosophila to 1 human). Dmel\tw shares 50% identity and 64% similarity with the human gene.
