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FB2026_01
,
released March 12, 2026
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 two sarcoglycan genes, SGCD and SGCG (see MIM:601411, MIM:608896 and FBhh0000207). Dystrophinopathies also include DMD-associated dilated cardiomyopathy (DCM) in which the heart is primarily affected; see dilated cardiomyopathy 1L (FBhh0000162). A single fly gene, Dmel\Scgδ, is orthologous to both SGCD and SGCG and to a third sarcoglycan, SGCZ. Multiple genetic reagents, including classical amorphic alleles, RNAi-targeting constructs and alleles caused by insertional mutagenesis, have been generated for the fly gene.
Multiple UAS constructs of the human Hsap\SGCD gene have been introduced into flies, including wild-type SGCD and a gene carrying a mutational lesion; functional complementation using the human SGCD gene has not been tested. A "mini-gamma" form of mouse Mmus\Sgcg (ortholog of human SGCG) has been introduced into flies and is able to rescue the heart phenotype of an amorphic allele of Dmel\Scgδ.
Variant(s) implicated in human disease tested (as transgenic human gene, SGCD): the S151A variant form has been introduced into flies; this variant is implicated in both of the diseases associated with SGCD, limb-girdle muscular dystrophy, type 2F (LGMD2F) and dilated cardiomyopathy 1L (CMD1L). See the 'Disease-Implicated Variants' table below.
Animals carrying amorphic alleles of Dmel\Scgδ survive to adulthood, but exhibit muscle defects, including in the heart, and have a reduced lifespan. Adult phenotypes have allowed characterization of genetic interactions.
[updated Apr. 2022 by FlyBase; FBrf0222196]
Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is caused by mutation in the sarcoglycan-delta gene (SGCD). [from MIM:601287; 2016.03.11] Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is caused by mutation in the sarcoglycan-gamma gene (SGCG). [from MIM:253700; 2016.03.11]
SGCD and SGCG are components of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which spans the sarcolemma and forms a link between the F-actin cytoskeleton and the extracellular matrix. [from Gene Cards, SGCD and Gene Cards, SGCG; 2016.03.25]
Many to one: 3 human to 1 Drosophila; the fly gene Scgδ is orthologous to SGCD, SGCG and SGCZ in human.
Many to one: 3 human to 1 Drosophila; the fly gene Scgδ is orthologous to SGCD, SGCG and SGCZ in human.
Higher-scoring ortholog of human SGCD; moderate-scoring ortholog of SGCG and SGCZ (1 Drosophila to 3 human). Dmel\Scgδ shares 38-39% identity and 58-61% similarity with the human genes.