Dystrophin

Information about Dystrophin

dystrophin (muscular dystrophy, Duchenne and Becker types)
Identifiers
Symbol	DMD
Entrez	1756
HUGO	2928
OMIM	300377
RefSeq	NM_004006
UniProt	P11532
Other data
Locus	Chr. X p21.2

Dystrophin is a rod-shaped cytoplasmic protein, and a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane. This complex is variously known as the costamere or the dystrophin-associated protein complex. Many muscle proteins, such as α-dystrobrevin, syncoilin, synemin, sarcoglycan, dystroglycan, and sarcospan, colocalize with dystrophin at the costamere.

Dystrophin has the longest gene known to date, measuring 2.5 megabases (0.1% of the human genome). Its gene's locus is Xp21 and has 97 exons, produces an mRNA of 14.6 kilobases and a protein of over 3500 amino acid residues.

Pathology

Its deficiency is one of the root causes of muscular dystrophy. It was first identified in 1987 by Louis M. Kunkel ^[1], after the 1986 discovery of the mutated gene that causes Duchenne muscular dystrophy (DMD) ^[2].

Normal tissue contains small amounts of dystrophin (about 0.002% of total muscle protein), but its absence leads to both DMD and fibrosis, a condition of muscle hardening. A different mutation of the same gene causes defective dystrophin, leading to Becker's muscular dystrophy (BMD).

References and notes

1. ^ Hoffman E, Brown R, Kunkel L (1987). "Dystrophin: the protein product of the Duchenne muscular dystrophy locus". Cell 51 (6): 919-28. PMID 3319190.
2. ^ Monaco A, Neve R, Colletti-Feener C et al (1986). "Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene". Nature 323 (6089): 646-50. PMID 3773991.

External links

MeSH Dystrophin

• • [ e]

Protein: membrane proteins

Ankyrin - Arrestin - Calnexin - Connexin - Dystrophin - Ephrin - Heterotrimeric GTP-binding proteins - LDL-receptor-related protein associated protein - Membrane fusion protein (VAMP) - Membrane glycoproteins - Membrane transport proteins - Myelin basic protein - Neurofibromin 2 - Phospholipid transfer proteins - Pore forming toxins - Presenilin - Protoporphyrinogen oxidase - Pulmonary surfactant-associated protein B - Pulmonary surfactant-associated protein C - Spectrin - Tetraspanin - Transmembrane receptors - Utrophin - Vesicular transport proteins

• • [ e] Proteins of the cytoskeleton
Microfilaments	Actins - Actin-binding proteins - Actinin - Arp2/3 complex - Cofilin - Destrin - Gelsolin - Myosins - Profilin - Tropomodulin - Troponin (T, C, I) - Tropomyosin - Wiskott-Aldrich syndrome protein
Intermediate filaments	type 1 and 2 (Cytokeratin, type I, type II) - type 3 (Desmin, GFAP, Peripherin, Vimentin) - type 4 (Internexin, Nestin, Neurofilament, Synemin, Syncoilin) - type 5 (Lamin A, B)
Microtubules	Dyneins - Kinesins - MAPs (Tau protein, Dynamin) - Tubulins - Stathmin
Catenins	Alpha catenin - Beta catenin - Plakoglobin (gamma catenin) - Delta catenin
Nonhuman	Major sperm proteins - Prokaryotic cytoskeleton (Crescentin, FtsZ, MreB)
Other	APC - Dystrophin (Dystroglycan) - plakin (Desmoplakin, Plectin) - Spectrin - Talin - Utrophin - Vinculin

• • [ e] Histology: muscle tissue
skeletal muscle/general	epimysium, fascicle, perimysium, endomysium, muscle fiber (intrafusal, extrafusal), myofibril sarcomere (a, i, and h bands; z and m lines), myofilaments (thin filament/actin, thick filament/myosin, elastic filament/titin, nebulin), tropomyosin, troponin (T, C, I) costamere (dystrophin, α,β-dystrobrevin, syncoilin, synemin/desmuslin, dysbindin, sarcoglycan, dystroglycan, sarcospan), desmin neuromuscular junction, motor unit, muscle spindle, excitation-contraction coupling, sliding filament mechanism myoblast, satellite cell, sarcoplasm, sarcolemma, sarcoplasmic reticulum, T-tubule
cardiac muscle	myocardium, intercalated disc, nebulette
smooth muscle	calmodulin, vascular smooth muscle

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locus (plural loci) is a fixed position on a chromosome, such as the position of a gene or a biomarker (genetic marker). A variant of the DNA sequence at a given locus is called an allele. The ordered list of loci known for a particular genome is called a genetic map.
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Cytoplasm is a gelatinous, semi-transparent fluid that fills most cells. Eukaryotic cells contain a nucleus that is kept separate from the cytoplasm by a double membrane layer. The cytoplasm has three major elements; the cytosol, organelles and inclusions.
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Proteins are large organic compounds made of amino acids arranged in a linear chain and joined together by peptide bonds between the carboxyl and amino groups of adjacent amino acid residues.
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cytoskeleton is a cellular "scaffolding" or "skeleton" contained, as all other organelles, within the cytoplasm. It is contained in all eukaryotic cells and recent research has shown it can be present in prokaryotic cells too.
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muscle fiber, also spelled muscle fibre (see spelling differences), also technically known as a myocyte, is a single cell of a muscle. Muscle fibers contain many myofibrils, the contractile unit of muscles.
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extracellular matrix (ECM) is the extracellular part of animal tissue that usually provides structural support to the cells in addition to performing various other important functions. The extracellular matrix is the defining feature of connective tissue in animals.
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The costamere is a structural-functional component of skeletal muscle cells which, according to original descriptions in the early 1980s (which are generally still accepted), are sub-sarcolemmal protein assemblies circumferentially aligned in register with the Z-disk of peripheral
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Identifiers
Symbol DTNB

Entrez 1838
HUGO 3058
OMIM 602415

RefSeq NM_033147
UniProt O60941
Other data

Locus Chr. 2 p24

Dystrobrevin is a protein that binds to dystrophin in the costamere of skeletal muscle cells.
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Syncoilin is a muscle-specific intermediate filament, first isolated by Newey and colleagues^[1] as a binding partner to α-dystrobrevin, as determined by a yeast two-hybrid assay.
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Synemin, also called desmuslin, is an intermediate filament (IF) and, like other IFs, primarily functions to integrate mechanical stress and maintain structural integrity in eukaryotic cells.
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The sarcoglcyans are a family of five transmembrane proteins (α, β, γ, δ or ε) involved in the protein complex responsible for connecting the muscle fibre cytoskeleton to the extracellular matrix, preventing damage the muscle fibre sarcolemma through
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Dystroglycan is one of the dystrophin-associated glycoproteins, which is encoded by a 5.5 kb transcript in Homo sapiens by chromosome 3. There are two exons that are separated by a large intron.
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Sarcospan, discovered by the research group of Kevin Campbell, is a 25-kDa transmembrane protein located in the dystrophin-associated protein complex of skeletal muscle cells.
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An exon is any region of DNA within a gene that is transcribed to the final messenger RNA (mRNA) molecule, rather than being spliced out from the transcribed RNA molecule. Exons of many eukaryotic genes interleave with segments of non-coding DNA (introns).
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Messenger Ribonucleic Acid (mRNA) is a molecule of RNA encoding a chemical "blueprint" for a protein product. mRNA is transcribed from a DNA template, and carries coding information to the sites of protein synthesis: the ribosomes.
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Muscular Dystrophy
Classification & external resources

ICD-10 G 71.0
ICD-9 359.0 - 359.1

MedlinePlus 001190
eMedicine orthoped/418
MeSH D009136 Muscular dystrophy
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MeSH D020388 Duchenne muscular dystrophy (DMD) (also known as muscular dystrophy - Duchenne type) is an eventually fatal disorder that is characterized by rapidly progressive muscle weakness and atrophy of muscle tissue.
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MeSH D005355 Fibrosis is the formation or development of excess fibrous connective tissue in an organ or tissue as a reparative or reactive process, as opposed to a formation of fibrous tissue as a normal constituent of an organ or tissue.
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Becker's muscular dystrophy (also known as Benign pseudohypertrophic muscular dystrophy) is an X-linked recessive inherited disorder characterized by slowly progressive muscle weakness of the legs and pelvis.
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Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. Created and updated by the United States National Library of Medicine (NLM), it is used by the MEDLINE/PubMed
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A membrane protein is a protein molecule that is attached to, or associated with the membrane of a cell or an organelle. More than half of all proteins interact with membranes.
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Identifiers
Symbol ANK2
Alt. Symbols LQT4

Entrez 287
HUGO 493
OMIM 106410

RefSeq NM_001148
UniProt Q01484
Other data

Locus Chr.
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Identifiers
Symbol ARRB2
Alt. Symbols ARR2

Entrez 409
HUGO 712
OMIM 107941

RefSeq NM_004313
UniProt P32121
Other data

Locus Chr.
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