Genomes and Genes
Gene Symbol: Actn
Description: alpha actinin
Alias: ACTN, CG4376, CT14163, CT14232, Dmel\CG4376, EG:133E12.1, GA17, HM-29, actn, alpha-actinin, alphaActn, fliA, l(1)2Cb, l(1)EA82, alpha actinin, Actn-PA, Actn-PB, Actn-PC, Actn-PD, Actn-PF, Actn-PG, Actn-PH, Actn-PI, Actn-PJ, Alpha-actinin, CG4376-PA, CG4376-PB, CG4376-PC, CG4376-PD, CG4376-PF, CG4376-PG, CG4376-PH, CG4376-PI, CG4376-PJ, a-actinin, flightless A, flightless-A, lethal(1)2cb
Species: fruit fly
- Fyrberg C, Ketchum A, Ball E, Fyrberg E. Characterization of lethal Drosophila melanogaster alpha-actinin mutants. Biochem Genet. 1998;36:299-310 pubmed..We anticipate that the alpha-actinin mutants described herein will facilitate in vivo tests of spectrin superfamily protein domain functions using a combination of directed mutagenesis and germline transformation. ..
- Homyk T, Emerson C. Functional interactions between unlinked muscle genes within haploinsufficient regions of the Drosophila genome. Genetics. 1988;119:105-21 pubmed
- Rajendra T, Gonsalvez G, Walker M, Shpargel K, Salz H, Matera A. A Drosophila melanogaster model of spinal muscular atrophy reveals a function for SMN in striated muscle. J Cell Biol. 2007;176:831-41 pubmed..The sarcomeric localization of Smn is conserved in mouse myofibrils. These observations suggest a muscle-specific function for SMN and underline the importance of this tissue in modulating SMA severity. ..
- Katzemich A, Liao K, Czerniecki S, Schock F. Alp/Enigma family proteins cooperate in Z-disc formation and myofibril assembly. PLoS Genet. 2013;9:e1003342 pubmed publisher..Our results indicate that Alp/Enigma family members cooperate in Z-disc assembly and myofibril formation; and we propose, based on sequence analysis, a novel class of PDZ domain likely involved in ?-actinin binding. ..
- Clark K, Bland J, Beckerle M. The Drosophila muscle LIM protein, Mlp84B, cooperates with D-titin to maintain muscle structural integrity. J Cell Sci. 2007;120:2066-77 pubmed
- Roulier E, Fyrberg C, Fyrberg E. Perturbations of Drosophila alpha-actinin cause muscle paralysis, weakness, and atrophy but do not confer obvious nonmuscle phenotypes. J Cell Biol. 1992;116:911-22 pubmed..We have investigated accumulation of alpha-actinin, the principal cross-linker of actin filaments, in four Drosophila fliA mutants...
- Fyrberg E, Kelly M, Ball E, Fyrberg C, Reedy M. Molecular genetics of Drosophila alpha-actinin: mutant alleles disrupt Z disc integrity and muscle insertions. J Cell Biol. 1990;110:1999-2011 pubmed..Allelic but less severely affected fliA mutants are apparently due to point mutations, and develop into adults having thoracic muscle abnormalities...
- Hudson A, Petrella L, Tanaka A, Cooley L. Mononuclear muscle cells in Drosophila ovaries revealed by GFP protein traps. Dev Biol. 2008;314:329-40 pubmed publisher..Consistent with this observation, we were able to use the Flp/FRT system to efficiently generate genetic mosaics in the epithelial sheath, suggesting these cells provide a new opportunity for clonal analysis of adult striated muscle. ..
- Vigoreaux J, Saide J, Pardue M. Structurally different Drosophila striated muscles utilize distinct variants of Z-band-associated proteins. J Muscle Res Cell Motil. 1991;12:340-54 pubmed..Projectin shows immunological cross-reactivity with twitchin, a nematode giant protein that is a component of the body wall A-band and shares similarities with vertebrate titin. ..
- Rui Y, Bai J, Perrimon N. Sarcomere formation occurs by the assembly of multiple latent protein complexes. PLoS Genet. 2010;6:e1001208 pubmed publisher..Thus, sarcomere formation occurs by the coordinated assembly of multiple latent protein complexes, as opposed to sequential assembly. ..
- Röper K, Gregory S, Brown N. The 'spectraplakins': cytoskeletal giants with characteristics of both spectrin and plakin families. J Cell Sci. 2002;115:4215-25 pubmed..These include linking the plasma membrane and the cytoskeleton, linking together different elements of the cytoskeleton and organising membrane domains. ..
- Zhang Y, Featherstone D, Davis W, Rushton E, Broadie K. Drosophila D-titin is required for myoblast fusion and skeletal muscle striation. J Cell Sci. 2000;113 ( Pt 17):3103-15 pubmed..We propose that D-Titin is instrumental in the development of the two defining features of striated muscle: the formation of multi-nucleate syncitia and the organization of actin-myosin filaments into striated arrays. ..
- Vigoreaux J. Genetics of the Drosophila flight muscle myofibril: a window into the biology of complex systems. Bioessays. 2001;23:1047-63 pubmed
- Perrimon N, Engstrom L, Mahowald A. Developmental genetics of the 2C-D region of the Drosophila X chromosome. Genetics. 1985;111:23-41 pubmed..Additional information on the genetic organization of loci within the adjacent 2E area are also described.(ABSTRACT TRUNCATED AT 250 WORDS) ..
- Jani K, Schock F. Zasp is required for the assembly of functional integrin adhesion sites. J Cell Biol. 2007;179:1583-97 pubmed publisher..Finally, Zasp interacts genetically with integrins, showing that it regulates integrin function. Our observations point to an important function for Zasp in the assembly of integrin adhesion sites both in cell culture and in tissues. ..
- Rodriguez Diaz A, Toyama Y, Abravanel D, Wiemann J, Wells A, Tulu U, et al. Actomyosin purse strings: renewable resources that make morphogenesis robust and resilient. HFSP J. 2008;2:220-37 pubmed publisher..Together our data demonstrate that purse strings are renewable resources that contribute to the robust and resilient nature of closure. ..
- Chavoshi T, Moussian B, Uv A. Tissue-autonomous EcR functions are required for concurrent organ morphogenesis in the Drosophila embryo. Mech Dev. 2010;127:308-19 pubmed publisher..The results suggest that mid-embryonic EcR-activation imparts a level of gene regulation during embryonic organogenesis that has been largely overlooked, and possibly facilitates synchronized development of individual organs. ..
- Perrimon N, Engstrom L, Mahowald A. The effects of zygotic lethal mutations on female germ-line functions in Drosophila. Dev Biol. 1984;105:404-14 pubmed..Three loci were found which, in germ-line clones, produced embryonic phenotypes that resemble maternal effect mutations. The implications of this study for the genetic analysis of early development are discussed. ..
- Perkins A, Tanentzapf G. An ongoing role for structural sarcomeric components in maintaining Drosophila melanogaster muscle function and structure. PLoS ONE. 2014;9:e99362 pubmed publisher..Our results provide in vivo evidence of adult muscle protein turnover and uncover specific functional defects associated with reduced expression of a subset of cytoskeletal proteins in the adult animal. ..
- Applewhite D, Grode K, Duncan M, Rogers S. The actin-microtubule cross-linking activity of Drosophila Short stop is regulated by intramolecular inhibition. Mol Biol Cell. 2013;24:2885-93 pubmed publisher..We propose that this mechanism allows Shot to rapidly cross-link dynamic microtubules in response to localized activating signals at the cell cortex. ..
- Szuplewski S, Kottler B, Terracol R. The Drosophila bZIP transcription factor Vrille is involved in hair and cell growth. Development. 2003;130:3651-62 pubmed..The phenotypes observed are consistent with the hypothesis that vri is required for normal cell growth and proliferation via the regulation of the actin cytoskeleton. ..
- Irion U. Drosophila muscleblind codes for proteins with one and two tandem zinc finger motifs. PLoS ONE. 2012;7:e34248 pubmed publisher..1), are not muscle-specific but expressed mainly in epidermal cells, indicating a function for mbl not only in muscles and the nervous system. ..
- Epstein H, Bernstein S. Genetic approaches to understanding muscle development. Dev Biol. 1992;154:231-44 pubmed..We discuss examples of each of these genetic approaches as well as the developmental and evolutionary implications of the results. ..
- Royuela M, Astier C, Fraile B, Paniagua R. Alpha-actinin in different invertebrate muscle cell types of Drosophila melanogaster, the earthworm Eisenia foetida, and the snail Helix aspersa. J Muscle Res Cell Motil. 1999;20:1-9 pubmed
- Sang T, Ready D. Eyes closed, a Drosophila p47 homolog, is essential for photoreceptor morphogenesis. Development. 2002;129:143-54 pubmed..Loss of Eyc function results in a lethal failure of nuclear envelope assembly in early zygotic divisions. Phenotypes resulting from eyc mutations provide the first in vivo evidence for a role for p47 in membrane biogenesis. ..
- Chechenova M, Bryantsev A, Cripps R. The Drosophila Z-disc protein Z(210) is an adult muscle isoform of Zasp52, which is required for normal myofibril organization in indirect flight muscles. J Biol Chem. 2013;288:3718-26 pubmed publisher..These studies expand our knowledge of Zasp isoforms and their functions in muscle. Given the role of Zasp proteins in mammalian muscle development and disease, our results have relevance to mammalian muscle biology. ..
- Sevdali M, Kumar V, Peckham M, Sparrow J. Human congenital myopathy actin mutants cause myopathy and alter Z-disc structure in Drosophila flight muscle. Neuromuscul Disord. 2013;23:243-55 pubmed publisher..Using Drosophila to study actin mutations may help aid our understanding of congential myopathies caused by actin mutations. ..
- Thomas G, Newbern E, Korte C, Bales M, Muse S, Clark A, et al. Intragenic duplication and divergence in the spectrin superfamily of proteins. Mol Biol Evol. 1997;14:1285-95 pubmed..This evolutionary model has general applicability to the origins of the many other proteins that have tandemly repeated motifs. ..
- Reed S, Serio A, Welch M. Rickettsia parkeri invasion of diverse host cells involves an Arp2/3 complex, WAVE complex and Rho-family GTPase-dependent pathway. Cell Microbiol. 2012;14:529-45 pubmed publisher..Our results reveal a key role for the WAVE and Arp2/3 complexes, as well as a higher degree of variation than previously appreciated in actin nucleation pathways activated during Rickettsia invasion...
- Homyk T, Szidonya J, Suzuki D. Behavioral mutants of Drosophila melanogaster. III. Isolation and mapping of mutations by direct visual observations of behavioral phenotypes. Mol Gen Genet. 1980;177:553-65 pubmed
- Weitkunat M, Kaya Copur A, Grill S, Schnorrer F. Tension and force-resistant attachment are essential for myofibrillogenesis in Drosophila flight muscle. Curr Biol. 2014;24:705-16 pubmed publisher..As myofibril and sarcomeric architecture as well as their molecular components are evolutionarily conserved, we propose a similar tension-based mechanism to regulate myofibrillogenesis in vertebrates. ..
- Bainton R, Tsai L, Schwabe T, DeSalvo M, Gaul U, Heberlein U. moody encodes two GPCRs that regulate cocaine behaviors and blood-brain barrier permeability in Drosophila. Cell. 2005;123:145-56 pubmed..We propose that a Moody-mediated signaling pathway functions in glia to regulate nervous system insulation and drug-related behaviors. ..
- Liao K, González Morales N, Schock F. Zasp52, a Core Z-disc Protein in Drosophila Indirect Flight Muscles, Interacts with ?-Actinin via an Extended PDZ Domain. PLoS Genet. 2016;12:e1006400 pubmed publisher..Flight assays also show that a Zasp52 mutant suppresses the ?-actinin mutant phenotype, indicating that both proteins are core structural Z-disc proteins required for optimal Z-disc function. ..
- Wahlström G, Lahti V, Pispa J, Roos C, Heino T. Drosophila non-muscle alpha-actinin is localized in nurse cell actin bundles and ring canals, but is not required for fertility. Mech Dev. 2004;121:1377-91 pubmed..We also show that ectopically expressed adult muscle-specific alpha-actinin localizes to all F-actin containing structures in the nurse cells in the absence of endogenous non-muscle alpha-actinin. ..
- Alves Silva J, Hahn I, Huber O, Mende M, Reissaus A, Prokop A. Prominent actin fiber arrays in Drosophila tendon cells represent architectural elements different from stress fibers. Mol Biol Cell. 2008;19:4287-97 pubmed publisher..Features reported here and elsewhere for tendon cells are reminiscent of the structural and molecular features of support cells in the inner ear of vertebrates, and they might have potential translational value. ..
- Nongthomba U, Ansari M, Thimmaiya D, Stark M, Sparrow J. Aberrant splicing of an alternative exon in the Drosophila troponin-T gene affects flight muscle development. Genetics. 2007;177:295-306 pubmed
- Taghli Lamallem O, Akasaka T, Hogg G, Nudel U, Yaffe D, Chamberlain J, et al. Dystrophin deficiency in Drosophila reduces lifespan and causes a dilated cardiomyopathy phenotype. Aging Cell. 2008;7:237-49 pubmed publisher..Our results illustrate the utility of Drosophila as a model system to study dilated cardiomyopathy and other muscular-dystrophy-associated phenotypes. ..
- Homyk T, Pye Q. Some mutations affecting neural or muscular tissues alter the physiological components of the electroretinogram in Drosophila. J Neurogenet. 1989;5:37-48 pubmed..Mutations bas, rex and sesD delay recovery from the prolonged depolarization afterpotential. The visual defects of mutations elavjl and nbAEE171 are not complemented by lethal mutations, which, presumably, affect other tissues. ..
- Domsch K, Ezzeddine N, Nguyen H. Abba is an essential TRIM/RBCC protein to maintain the integrity of sarcomeric cytoarchitecture. J Cell Sci. 2013;126:3314-23 pubmed publisher..The importance of these presumed protein-protein interactions and ubiquitin ligase-associated domains supports our hypothesis that Abba is needed for specific protein complex formation and stabilization at Z-discs and M-lines. ..
- LaBeau DiMenna E, Clark K, Bauman K, Parker D, Cripps R, Geisbrecht E. Thin, a Trim32 ortholog, is essential for myofibril stability and is required for the integrity of the costamere in Drosophila. Proc Natl Acad Sci U S A. 2012;109:17983-8 pubmed publisher..Due to the high conservation of these structures in animals, we demonstrate a previously unknown role for TRIM32 proteins in myofibril stability. ..
- Stronach B, Renfranz P, Lilly B, Beckerle M. Muscle LIM proteins are associated with muscle sarcomeres and require dMEF2 for their expression during Drosophila myogenesis. Mol Biol Cell. 1999;10:2329-42 pubmed..Furthermore, our results are consistent with a structural role for Mlps as components of muscle cytoarchitecture. ..
- McGurk L, Bonini N. Protein interacting with C kinase (PICK1) is a suppressor of spinocerebellar ataxia 3-associated neurodegeneration in Drosophila. Hum Mol Genet. 2012;21:76-84 pubmed publisher..These findings indicate that interaction proteins may define a rich source of modifier pathways to target in disease situations. ..
- Wahlström G, Norokorpi H, Heino T. Drosophila alpha-actinin in ovarian follicle cells is regulated by EGFR and Dpp signalling and required for cytoskeletal remodelling. Mech Dev. 2006;123:801-18 pubmed..In wild-type ovaries, alpha-actinin is ubiquitously expressed. The non-muscle alpha-actinin mutant Actn(Delta233), which is viable and fertile, lacks alpha-actinin expression in ovarian germline cells, while somatic ..
- Haigh S, Salvi S, Sevdali M, Stark M, Goulding D, Clayton J, et al. Drosophila indirect flight muscle specific Act88F actin mutants as a model system for studying congenital myopathies of the human ACTA1 skeletal muscle actin gene. Neuromuscul Disord. 2010;20:363-74 pubmed publisher..We conclude that the Drosophila indirect flight muscles provide a good model system for studying ACTA1 mutations. ..
- Vicente M, Monferrer L, Poulos M, Houseley J, Monckton D, O Dell K, et al. Muscleblind isoforms are functionally distinct and regulate alpha-actinin splicing. Differentiation. 2007;75:427-40 pubmed
- Miller K. Role of the actin cytoskeleton in early Drosophila development. Curr Top Dev Biol. 1995;31:167-96 pubmed
- Haines N, Seabrooke S, Stewart B. Dystroglycan and protein O-mannosyltransferases 1 and 2 are required to maintain integrity of Drosophila larval muscles. Mol Biol Cell. 2007;18:4721-30 pubmed..This study opens the possibility of using Drosophila to investigate muscular dystrophy. ..
- Haye A, Albert J, Rooman M. Modeling the Drosophila gene cluster regulation network for muscle development. PLoS ONE. 2014;9:e90285 pubmed publisher..The non-uniqueness of the solutions and the variable agreement with experimental connections were discussed in the context of the different hypotheses underlying this type of approach. ..
- Taghli Lamallem O, Jagla K, Chamberlain J, Bodmer R. Mechanical and non-mechanical functions of Dystrophin can prevent cardiac abnormalities in Drosophila. Exp Gerontol. 2014;49:26-34 pubmed publisher..These findings suggest that the signaling functions of Dystrophin protein are able to ameliorate the dilated cardiomyopathy, and thus might help to improve heart muscle function in micro-Dystrophin-based gene therapy approaches. ..
- Zheng L, Sepúlveda L, Lua R, Lichtarge O, Golding I, Sokac A. The maternal-to-zygotic transition targets actin to promote robustness during morphogenesis. PLoS Genet. 2013;9:e1003901 pubmed publisher..Since all morphogenesis depends on cytoskeletal remodeling, both in embryos and adults, we suggest that robustness-promoting mechanisms aimed at actin could be effective at all life stages. ..
- Williams J, Boin N, Valera J, Johnson A. Noncanonical roles for Tropomyosin during myogenesis. Development. 2015;142:3440-52 pubmed publisher..Tropomyosin therefore dictates fundamental steps of myogenesis prior to regulating contraction in the sarcomere. ..
- Saunders R, Avides M, Howard T, Gonzalez C, Glover D. The Drosophila gene abnormal spindle encodes a novel microtubule-associated protein that associates with the polar regions of the mitotic spindle. J Cell Biol. 1997;137:881-90 pubmed..These findings are discussed in relation to the known spindle abnormalities in asp mutants. ..
- Kureishy N, Sapountzi V, Prag S, Anilkumar N, Adams J. Fascins, and their roles in cell structure and function. Bioessays. 2002;24:350-61 pubmed..The supplementary material referred to in this section can be found at http://www.interscience.wiley.com/jpages/0265-9247/suppmat/2002/v24.350.html ..
- Ayme Southgate A, Bounaix C, Riebe T, Southgate R. Assembly of the giant protein projectin during myofibrillogenesis in Drosophila indirect flight muscles. BMC Cell Biol. 2004;5:17 pubmed
- Clark K, Kadrmas J. Drosophila melanogaster muscle LIM protein and alpha-actinin function together to stabilize muscle cytoarchitecture: a potential role for Mlp84B in actin-crosslinking. Cytoskeleton (Hoboken). 2013;70:304-16 pubmed publisher..Our data support a model in which ?-actinin and Mlp84B have important and overlapping functions at sites of actin filament anchorage to preserve muscle structure and function. ..
- Qian L, Mohapatra B, Akasaka T, Liu J, Ocorr K, Towbin J, et al. Transcription factor neuromancer/TBX20 is required for cardiac function in Drosophila with implications for human heart disease. Proc Natl Acad Sci U S A. 2008;105:19833-8 pubmed publisher..These findings suggest that the fly heart might serve as an identifier of candidate genes involved in human heart disease. ..
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