Desmin (Des)

CMD1I; CSM1; CSM2; Intermediate Filament Protein

SPN	W429
HGNC	2770
MGI	94885
PubMed	15501438
RGD	620686
UniProt	P17661
Wiki	Desmin

Desmin is a type III intermediate filament found near the Z line in sarcomeres. It was first purified in 1977, the gene was characterized in 1989, and the first knock-out mouse was created in 1996. Desmin is only expressed in vertebrates, however homologous proteins are found in many organisms. It is a 52kD protein that is a subunit of intermediate filaments in skeletal muscle tissue, smooth muscle tissue, and cardiac muscle tissue. The function of desmin has been deduced through studies in knockout mice, however the underlying mechanism of its action is not known. These possibilities may be the result of interactions with other proteins and not desmin itself. More research needs to be done on how desmin's expression and interactions in the muscle cell in order to determine its exact function.

Reference

"Human desmin-coding gene: complete nucleotide sequence, characterization and regulation of expression during myogenesis and development."
Gene 78:243-254(1989) [PubMed] [Europe PMC] [Abstract]

"High level desmin expression depends on a muscle-specific enhancer."
J. Biol. Chem. 266:6562-6570(1991) [PubMed] [Europe PMC] [Abstract]

"Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy."
Hum. Genet. 98:422-429(1996) [PubMed] [Europe PMC] [Abstract]

"Missense mutations in desmin associated with familial cardiac and skeletal myopathy."
Nat. Genet. 19:402-403(1998) [PubMed] [Europe PMC] [Abstract]

"Desmin mutation responsible for idiopathic dilated cardiomyopathy."
Circulation 100:461-464(1999) [PubMed] [Europe PMC] [Abstract]

"Structural and functional analysis of a new desmin variant causing desmin-related myopathy."
Hum. Mutat. 18:388-396(2001) [PubMed] [Europe PMC] [Abstract]

"Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy."
Hum. Genet. 114:306-313(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation."
Hum. Mol. Genet. 8:2191-2198(1999) [PubMed] [Europe PMC] [Abstract]

"Functional significance of the specific sites phosphorylated in desmin at cleavage furrow: Aurora-B may phosphorylate and regulate type III intermediate filaments during cytokinesis coordinatedly with Rho-kinase."
Mol. Biol. Cell 14:1489-1500(2003) [PubMed] [Europe PMC] [Abstract]

"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]

"Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle."
J. Clin. Invest. 121:70-85(2011) [PubMed] [Europe PMC] [Abstract]

"Desmin myopathy."
Brain 127:723-734(2004) [PubMed] [Europe PMC] [Abstract]

"Desminopathies in muscle disease."
J. Pathol. 204:418-427(2004) [PubMed] [Europe PMC] [Abstract]

"A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies."
J. Med. Genet. 50:437-443(2013) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"A dysfunctional desmin mutation in a patient with severe generalized myopathy."
Proc. Natl. Acad. Sci. U.S.A. 95:11312-11317(1998) [PubMed] [Europe PMC] [Abstract]

"Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation."
Clin. Genet. 57:423-429(2000) [PubMed] [Europe PMC] [Abstract]

"A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates."
Neurology 55:986-990(2000) [PubMed] [Europe PMC] [Abstract]

"Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene."
N. Engl. J. Med. 342:770-780(2000) [PubMed] [Europe PMC] [Abstract]

"On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria."
Hum. Mol. Genet. 12:657-669(2003) [PubMed] [Europe PMC] [Abstract]

Erratum
Hum. Mol. Genet. 16:2989-2990(2003)

"Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin C-terminal alpha-helical segment."
Muscle Nerve 27:669-675(2003) [PubMed] [Europe PMC] [Abstract]

"Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients."
Brain 127:439-451(2004) [PubMed] [Europe PMC] [Abstract]

"Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro."
Hum. Mol. Genet. 14:1251-1260(2005) [PubMed] [Europe PMC] [Abstract]

"A novel desmin R355P mutation causes cardiac and skeletal myopathy."
Neuromuscul. Disord. 15:525-531(2005) [PubMed] [Europe PMC] [Abstract]

"Variable pathogenic potentials of mutations located in the desmin alpha-helical domain."
Hum. Mutat. 27:906-913(2006) [PubMed] [Europe PMC] [Abstract]

"Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P."
Brain 130:1485-1496(2007) [PubMed] [Europe PMC] [Abstract]

"Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies."
Hum. Mutat. 28:374-386(2007) [PubMed] [Europe PMC] [Abstract]

"Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family."
Neuromuscul. Disord. 18:178-182(2008) [PubMed] [Europe PMC] [Abstract]

"Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene."
Heart Rhythm 6:1574-1583(2009) [PubMed] [Europe PMC] [Abstract]

"De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy."
Hum. Mol. Genet. 19:4595-4607(2010) [PubMed] [Europe PMC] [Abstract]

"Desmin A213V substitution represents a rare polymorphism but not a mutation and is more prevalent in patients with heart dilation of various origins."
Acta Myol. 30:42-45(2011) [PubMed] [Europe PMC] [Abstract]

"Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy."
Acta Myol. 30:121-126(2011) [PubMed] [Europe PMC] [Abstract]

"Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation."
Eur. J. Hum. Genet. 20:984-985(2012) [PubMed] [Europe PMC] [Abstract]

"Desmin mutations and arrhythmogenic right ventricular cardiomyopathy."
Am. J. Cardiol. 111:400-405(2013) [PubMed] [Europe PMC] [Abstract]

"The toxic effect of R350P mutant desmin in striated muscle of man and mouse."
Acta Neuropathol. 129:297-315(2015) [PubMed] [Europe PMC] [Abstract]