cd21186

first calponin homology (CH) domain found in the dystrophin family

CDD entry
Member databaseCDD
CDD typedomain
Short nameCH_DMD-like_rpt1
SetCH_SF

Description

The dystrophin family includes dystrophin and its paralog, utrophin. Dystrophin, encoded by the DMD gene, is a large, submembrane cytoskeletal protein that is the main component of the dystrophin-glycoprotein complex (DGC) in skeletal muscles. It links the transmembrane DGC to the actin cytoskeleton through binding strongly to the cytoplasmic tail of beta-dystroglycan, the transmembrane subunit of a highly O-glycosylated cell-surface protein. Dystrophin is also involved in maintaining the structural integrity of cells, as well as in the formation of the blood-brain barrier (BBB). Utrophin, also called dystrophin-related protein 1 (DRP-1), is an autosomal dystrophin homolog that increases dystrophic muscle function and reduces pathology. It is broadly expressed in both the mRNA and protein levels, and occurs in the cerebrovascular endothelium. Utrophin forms the utrophin-glycoprotein complex (UGC) by interacting with dystroglycans (DGs) and sarcoglycan-dystroglycans, as well as sarcoglycan and sarcospan (SG-SSPN) subcomplexes. It may act as a scaffolding protein that stabilizes lipid microdomains and clusters mechanosensitive channel subunits, and links the F-actin cytoskeleton to the cell membrane via the associated glycoprotein complex. Members of this family contain two copies of the CH domain. This model corresponds to the first CH domain. CH domains are actin filament (F-actin) binding motifs.
[34, 3, 8, 1, 24, 31, 5, 7, 6, 27, 33, 35, 4, 37, 13, 11, 22, 16, 12, 9, 19, 20, 23, 10, 21, 28, 25, 36, 2, 26, 18, 15, 29, 14, 30, 17, 32]

References

1.Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility. Koenig M, Kunkel LM. J Biol Chem 265, 4560-6, (1990). PMID: 2407739

2.Structure of the utrophin actin-binding domain bound to F-actin reveals binding by an induced fit mechanism. Moores CA, Keep NH, Kendrick-Jones J. J Mol Biol 297, 465-80, (2000). PMID: 10715214

3.The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Koenig M, Monaco AP, Kunkel LM. Cell 53, 219-28, (1988). PMID: 3282674

4.The ZZ domain of dystrophin in DMD: making sense of missense mutations. Vulin A, Wein N, Strandjord DM, Johnson EK, Findlay AR, Maiti B, Howard MT, Kaminoh YJ, Taylor LE, Simmons TR, Ray WC, Montanaro F, Ervasti JM, Flanigan KM. Hum Mutat 35, 257-64, (2014). PMID: 24302611

5.Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells. Piluso G, Mirabella M, Ricci E, Belsito A, Abbondanza C, Servidei S, Puca AA, Tonali P, Puca GA, Nigro V. J. Biol. Chem. 275, 15851-60, (2000). View articlePMID: 10747910

6.Specific interaction of the actin-binding domain of dystrophin with intermediate filaments containing keratin 19. Stone MR, O'Neill A, Catino D, Bloch RJ. Mol Biol Cell 16, 4280-93, (2005). PMID: 16000376

7.The interaction of dystrophin with beta-dystroglycan is regulated by tyrosine phosphorylation. Ilsley JL, Sudol M, Winder SJ. Cell Signal 13, 625-32, (2001). PMID: 11495720

8.A 71-kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other nonmuscle tissues. Lederfein D, Levy Z, Augier N, Mornet D, Morris G, Fuchs O, Yaffe D, Nudel U. Proc Natl Acad Sci U S A 89, 5346-50, (1992). PMID: 1319059

9.Up71 and up140, two novel transcripts of utrophin that are homologues of short forms of dystrophin. Wilson J, Putt W, Jimenez C, Edwards YH. Hum Mol Genet 8, 1271-8, (1999). PMID: 10369873

10.Adhesion-dependent tyrosine phosphorylation of (beta)-dystroglycan regulates its interaction with utrophin. James M, Nuttall A, Ilsley JL, Ottersbach K, Tinsley JM, Sudol M, Winder SJ. J Cell Sci 113 ( Pt 10), 1717-26, (2000). PMID: 10769203

11.Finding the sweet spot: assembly and glycosylation of the dystrophin-associated glycoprotein complex. Townsend D. Anat Rec (Hoboken) 297, 1694-705, (2014). PMID: 25125182

12.Primary structure of dystrophin-related protein. Tinsley JM, Blake DJ, Roche A, Fairbrother U, Riss J, Byth BC, Knight AE, Kendrick-Jones J, Suthers GK, Love DR. Nature 360, 591-3, (1992). PMID: 1461283

13.Lack of dystrophin results in abnormal cerebral diffusion and perfusion in vivo. Goodnough CL, Gao Y, Li X, Qutaish MQ, Goodnough LH, Molter J, Wilson D, Flask CA, Yu X. Neuroimage 102 Pt 2, 809-16, (2014). PMID: 25213753

14.The crystal structures of dystrophin and utrophin spectrin repeats: implications for domain boundaries. Muthu M, Richardson KA, Sutherland-Smith AJ. PLoS ONE 7, e40066, (2012). View articlePMID: 22911693

15.Microtubule binding distinguishes dystrophin from utrophin. Belanto JJ, Mader TL, Eckhoff MD, Strandjord DM, Banks GB, Gardner MK, Lowe DA, Ervasti JM. Proc Natl Acad Sci U S A 111, 5723-8, (2014). PMID: 24706788

16.Role of dystrophin in airway smooth muscle phenotype, contraction and lung function. Sharma P, Basu S, Mitchell RW, Stelmack GL, Anderson JE, Halayko AJ. PLoS One 9, e102737, (2014). PMID: 25054970

17.Functional plasticity of CH domains. Gimona M, Djinovic-Carugo K, Kranewitter WJ, Winder SJ. FEBS Lett 513, 98-106, (2002). PMID: 11911887

18.Utrophin regulates modal gating of mechanosensitive ion channels in dystrophic skeletal muscle. Tan N, Lansman JB. J Physiol 592, 3303-23, (2014). PMID: 24879867

19.A second promoter provides an alternative target for therapeutic up-regulation of utrophin in Duchenne muscular dystrophy. Burton EA, Tinsley JM, Holzfeind PJ, Rodrigues NR, Davies KE. Proc Natl Acad Sci U S A 96, 14025-30, (1999). PMID: 10570192

20.Syntrophin binds to an alternatively spliced exon of dystrophin. Ahn AH, Kunkel LM. J Cell Biol 128, 363-71, (1995). PMID: 7844150

21.Interactions of intermediate filament protein synemin with dystrophin and utrophin. Bhosle RC, Michele DE, Campbell KP, Li Z, Robson RM. Biochem. Biophys. Res. Commun. 346, 768-77, (2006). View articlePMID: 16777071

22.Role of dystrophin in acute Trypanosoma cruzi infection. Malvestio LM, Celes MR, Milanezi C, Silva JS, Jelicks LA, Tanowitz HB, Rossi MA, Prado CM. Microbes Infect 16, 768-77, (2014). PMID: 25102151

23.Contribution of the different modules in the utrophin carboxy-terminal region to the formation and regulation of the DAP complex. Tommasi di Vignano A, Di Zenzo G, Sudol M, Cesareni G, Dente L. FEBS Lett 471, 229-34, (2000). PMID: 10767429

24.Identification and characterization of the dystrophin anchoring site on beta-dystroglycan. Jung D, Yang B, Meyer J, Chamberlain JS, Campbell KP. J Biol Chem 270, 27305-10, (1995). PMID: 7592992

25.The 2.0 A structure of the second calponin homology domain from the actin-binding region of the dystrophin homologue utrophin. Keep NH, Norwood FL, Moores CA, Winder SJ, Kendrick-Jones J. J. Mol. Biol. 285, 1257-64, (1999). View articlePMID: 9887274

26.Sarcospan integration into laminin-binding adhesion complexes that ameliorate muscular dystrophy requires utrophin and α7 integrin. Marshall JL, Oh J, Chou E, Lee JA, Holmberg J, Burkin DJ, Crosbie-Watson RH. Hum Mol Genet 24, 2011-22, (2015). PMID: 25504048

27.Role of dystrophin and utrophin for assembly and function of the dystrophin glycoprotein complex in non-muscle tissue. Haenggi T, Fritschy JM. Cell. Mol. Life Sci. 63, 1614-31, (2006). View articlePMID: 16710609

28.The actin binding affinity of the utrophin tandem calponin-homology domain is primarily determined by its N-terminal domain. Singh SM, Bandi S, Winder SJ, Mallela KM. Biochemistry 53, 1801-9, (2014). PMID: 24628267

29.Exercise increases utrophin protein expression in the mdx mouse model of Duchenne muscular dystrophy. Gordon BS, Lowe DA, Kostek MC. Muscle Nerve 49, 915-8, (2014). PMID: 24375286

30.CH domains revisited. Stradal T, Kranewitter W, Winder SJ, Gimona M. FEBS Lett. 431, 134-7, (1998). View articlePMID: 9708889

31.The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives. Ahn AH, Freener CA, Gussoni E, Yoshida M, Ozawa E, Kunkel LM. J Biol Chem 271, 2724-30, (1996). PMID: 8576247

32.Calponin homology domains at a glance. Korenbaum E, Rivero F. J Cell Sci 115, 3543-5, (2002). PMID: 12186940

33.The structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker muscular dystrophy. Norwood FL, Sutherland-Smith AJ, Keep NH, Kendrick-Jones J. Structure 8, 481-91, (2000). View articlePMID: 10801490

34.Structure of a WW domain containing fragment of dystrophin in complex with beta-dystroglycan. Huang X, Poy F, Zhang R, Joachimiak A, Sudol M, Eck MJ. Nat. Struct. Biol. 7, 634-8, (2000). View articlePMID: 10932245

35.Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy. Ortiz-Lopez R, Li H, Su J, Goytia V, Towbin JA. Circulation 95, 2434-40, (1997). PMID: 9170407

36.Crystal structure of the actin-binding region of utrophin reveals a head-to-tail dimer. Keep NH, Winder SJ, Moores CA, Walke S, Norwood FL, Kendrick-Jones J. Structure 7, 1539-46, (1999). View articlePMID: 10647184

37.In vivo single-molecule imaging identifies altered dynamics of calcium channels in dystrophin-mutant C. elegans. Zhan H, Stanciauskas R, Stigloher C, Keomanee-Dizon K, Jospin M, Bessereau JL, Pinaud F. Nat Commun 5, 4974, (2014). PMID: 25232639

External Links
This website requires cookies, and the limited processing of your personal data in order to function. By using the site you are agreeing to this as outlined in our Privacy Notice and Terms of Use.