Acta1

Summary

Gene Symbol: Acta1
Description: actin, alpha 1, skeletal muscle
Alias: AA959943, Acta-2, Acts, Actsk-1, actin, alpha skeletal muscle, alpha-actin-1
Species: mouse
Products:     Acta1

Top Publications

  1. Massia S, Rao S, Hubbell J. Covalently immobilized laminin peptide Tyr-Ile-Gly-Ser-Arg (YIGSR) supports cell spreading and co-localization of the 67-kilodalton laminin receptor with alpha-actinin and vinculin. J Biol Chem. 1993;268:8053-9 pubmed
    ..This report also provides the first evidence for direct or indirect association of this receptor with vinculin and alpha-actinin when YIGSR-mediated cell spreading occurs. ..
  2. Ravenscroft G, Jackaman C, Bringans S, Papadimitriou J, Griffiths L, McNamara E, et al. Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies. Brain. 2011;134:1101-15 pubmed publisher
    Mutations in the skeletal muscle ?-actin gene (ACTA1) cause a range of pathologically defined congenital myopathies. Most patients have dominant mutations and experience severe skeletal muscle weakness, dying within one year of birth...
  3. Crawford K, Flick R, Close L, Shelly D, Paul R, Bove K, et al. Mice lacking skeletal muscle actin show reduced muscle strength and growth deficits and die during the neonatal period. Mol Cell Biol. 2002;22:5887-96 pubmed
    ..Thus, while increases in cardiac and vascular smooth-muscle actin can partially compensate for the lack of skeletal actin in null mice, this is not sufficient to support adequate skeletal muscle growth and/or function. ..
  4. Nguyen M, Joya J, Kee A, Domazetovska A, Yang N, Hook J, et al. Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy. Brain. 2011;134:3516-29 pubmed publisher
    ..The Acta1(H40Y) mouse has severe muscle weakness manifested as shortened lifespan, significant forearm and isolated muscle ..
  5. Costa C, Rommelaere H, Waterschoot D, Sethi K, Nowak K, Laing N, et al. Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects. J Cell Sci. 2004;117:3367-77 pubmed
    Mutations in the gene encoding alpha-skeletal-muscle actin, ACTA1, cause congenital myopathies of various phenotypes that have been studied since their discovery in 1999...
  6. Cohen S, Brault J, Gygi S, Glass D, Valenzuela D, Gartner C, et al. During muscle atrophy, thick, but not thin, filament components are degraded by MuRF1-dependent ubiquitylation. J Cell Biol. 2009;185:1083-95 pubmed publisher
    ..Because these proteins stabilize the thick filament, their selective ubiquitylation may facilitate thick filament disassembly. However, the thin filament components decreased by a mechanism not requiring MuRF1...
  7. Ochala J, Ravenscroft G, Laing N, Nowak K. Nemaline myopathy-related skeletal muscle ?-actin (ACTA1) mutation, Asp286Gly, prevents proper strong myosin binding and triggers muscle weakness. PLoS ONE. 2012;7:e45923 pubmed publisher
    Many mutations in the skeletal muscle ?-actin gene (ACTA1) lead to muscle weakness and nemaline myopathy. Despite increasing clinical and scientific interest, the molecular and cellular pathogenesis of weakness remains unclear...
  8. Gineste C, Le Fur Y, Vilmen C, Le Troter A, Pecchi E, Cozzone P, et al. Combined MRI and ³¹P-MRS investigations of the ACTA1(H40Y) mouse model of nemaline myopathy show impaired muscle function and altered energy metabolism. PLoS ONE. 2013;8:e61517 pubmed publisher
    ..Mutations in the skeletal muscle ?-actin gene (ACTA1) account for ?25% of all NM cases and are the most frequent cause of severe forms of NM...
  9. Tinklenberg J, Siebers E, Beatka M, Meng H, Yang L, Zhang Z, et al. Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice. Hum Mol Genet. 2018;27:638-648 pubmed publisher
    ..These findings suggest that myostatin inhibition may be useful in promoting muscle growth and strength in Acta1-mutant muscle, while also further establishing the relationship between low levels of myostatin and tubular ..

More Information

Publications93

  1. Kern C, Wessels A, McGarity J, Dixon L, Alston E, Argraves W, et al. Reduced versican cleavage due to Adamts9 haploinsufficiency is associated with cardiac and aortic anomalies. Matrix Biol. 2010;29:304-16 pubmed publisher
    ..In addition, these studies identify ADAMTS9 as a potential candidate gene for congenital cardiac anomalies. Mouse models of ADAMTS9 deficiency may be useful to study myxomatous valve degeneration. ..
  2. Seko Y, Matsuda H, Kato K, Hashimoto Y, Yagita H, Okumura K, et al. Expression of intercellular adhesion molecule-1 in murine hearts with acute myocarditis caused by coxsackievirus B3. J Clin Invest. 1993;91:1327-36 pubmed
    ..These data strongly suggest that the expression of ICAM-1 in myocardial cells plays a critical role in the cell-mediated cytotoxicity involved in acute viral myocarditis. ..
  3. Alonso S, Minty A, Bourlet Y, Buckingham M. Comparison of three actin-coding sequences in the mouse; evolutionary relationships between the actin genes of warm-blooded vertebrates. J Mol Evol. 1986;23:11-22 pubmed
    ..Other phenomena, such as gene conversion or isochore compartmentalization, probably distort the estimated divergence time. ..
  4. Chen J, Luo Y, Hui H, Cai T, Huang H, Yang F, et al. CD146 coordinates brain endothelial cell-pericyte communication for blood-brain barrier development. Proc Natl Acad Sci U S A. 2017;114:E7622-E7631 pubmed publisher
    ..These results reveal that the dynamic expression of CD146 controls the behavior of ECs and pericytes, thereby coordinating the formation of a mature and stable BBB. ..
  5. Nagandla H, Lopez S, Yu W, Rasmussen T, Tucker H, Schwartz R, et al. Defective myogenesis in the absence of the muscle-specific lysine methyltransferase SMYD1. Dev Biol. 2016;410:86-97 pubmed publisher
    ..Thus, in addition to the previously described functions for Smyd1 in heart development and skeletal muscle sarcomerogenesis, these results point to a novel role for Smyd1 in myoblast differentiation. ..
  6. Alonso S, Montagutelli X, Simon Chazottes D, Guenet J, Buckingham M. Re-localization of Actsk-1 to mouse chromosome 8, a new region of homology with human chromosome 1. Mamm Genome. 1993;4:15-20 pubmed
    ..Intermingling on this scale between human and mouse chromosomal homologies that occurred during evolution creates disorders in comparative linkage studies. ..
  7. Takahashi N, Ko M. The short 3'-end region of complementary DNAs as PCR-based polymorphic markers for an expression map of the mouse genome. Genomics. 1993;16:161-8 pubmed
  8. Teeter L, Petersen D, Nebert D, Kuo M. Murine mdr-1, mdr-2, and mdr-3 gene expression: no coinduction with the Cyp1a-1 and Nmo-1 genes in liver by 2,3,7,8-tetrachlorodibenzo-p-dioxin. DNA Cell Biol. 1991;10:433-41 pubmed
    ..Therefore, we conclude that any effects that TCDD might have on MDR expression must be substantially different from TCDD effects on genes known to be induced via the Ah receptor. ..
  9. Sassoon D, Garner I, Buckingham M. Transcripts of alpha-cardiac and alpha-skeletal actins are early markers for myogenesis in the mouse embryo. Development. 1988;104:155-64 pubmed
  10. Schleef M, Zuhlke C, Schöffl F, Jockusch H. Subtractive cDNA cloning as a tool to analyse secondary effects of a muscle disease. Characterization of affected genes in the myotonic ADR mouse. Neuromuscul Disord. 1994;4:205-17 pubmed
    ..A cDNA derived from the 1100 nucleotide parvalbumin transcript was cloned and the sequence for the as yet unknown 3' extended trailer, generated by alternative polyadenylation, was determined. ..
  11. Pappas C, Mayfield R, Henderson C, JamilPour N, Cover C, Hernandez Z, et al. Knockout of Lmod2 results in shorter thin filaments followed by dilated cardiomyopathy and juvenile lethality. Proc Natl Acad Sci U S A. 2015;112:13573-8 pubmed publisher
  12. Ohh M, Yauch R, Lonergan K, Whaley J, Stemmer Rachamimov A, Louis D, et al. The von Hippel-Lindau tumor suppressor protein is required for proper assembly of an extracellular fibronectin matrix. Mol Cell. 1998;1:959-68 pubmed
    ..These data support a direct role of pVHL in fibronectin matrix assembly. ..
  13. Liu X, Ramjiganesh T, Chen Y, Chung S, Hall S, SCHISSEL S, et al. Disruption of striated preferentially expressed gene locus leads to dilated cardiomyopathy in mice. Circulation. 2009;119:261-8 pubmed publisher
    ..These findings demonstrate that mutation of the Speg locus leads to cardiac dysfunction and a phenotype consistent with a dilated cardiomyopathy. ..
  14. Bathe F, Rommelaere H, Machesky L. Phenotypes of myopathy-related actin mutants in differentiated C2C12 myotubes. BMC Cell Biol. 2007;8:2 pubmed
    ..Some mutants did not induce any changes in the cellular actin system, indicating the importance of additional studies like functional assays to fully characterize the pathological impact of a mutant. ..
  15. Golding J, Partridge T, Beauchamp J, King T, Brown N, Gassmann M, et al. Mouse myotomes pairs exhibit left-right asymmetric expression of MLC3F and alpha-skeletal actin. Dev Dyn. 2004;231:795-800 pubmed
    ..Myotome asymmetry, therefore, is downstream of the iv mutation but upstream of, or unrelated to, the Pitx2c pathway. ..
  16. Tsika R, Ma L, Kehat I, Schramm C, Simmer G, Morgan B, et al. TEAD-1 overexpression in the mouse heart promotes an age-dependent heart dysfunction. J Biol Chem. 2010;285:13721-35 pubmed publisher
    ..These data provide the first in vivo evidence that increased TEAD-1 can induce characteristics of cardiac remodeling associated with cardiomyopathy and heart failure. ..
  17. Miner J, Miller J, Wold B. Skeletal muscle phenotypes initiated by ectopic MyoD in transgenic mouse heart. Development. 1992;114:853-60 pubmed
  18. Minty A, Caravatti M, Robert B, Cohen A, Daubas P, Weydert A, et al. Mouse actin messenger RNAs. Construction and characterization of a recombinant plasmid molecule containing a complementary DNA transcript of mouse alpha-actin mRNA. J Biol Chem. 1981;256:1008-14 pubmed
  19. Shi W, Chen H, Sun J, Buckley S, Zhao J, Anderson K, et al. TACE is required for fetal murine cardiac development and modeling. Dev Biol. 2003;261:371-80 pubmed
    ..The data suggest that TACE-mediated cell surface protein ectodomain shedding plays an essential and a novel regulatory role during cardiac development and modeling. ..
  20. Kablar B, Tajbakhsh S, Rudnicki M. Transdifferentiation of esophageal smooth to skeletal muscle is myogenic bHLH factor-dependent. Development. 2000;127:1627-39 pubmed
    ..Taken together, these results indicate that transdifferentiation is the fate of all smooth muscle cells in the upper esophagus and is normally initiated by Myf5. ..
  21. Rosen E, Chan J, Idusogie E, Clotman F, Vlasuk G, Luther T, et al. Mice lacking factor VII develop normally but suffer fatal perinatal bleeding. Nature. 1997;390:290-4 pubmed
    ..Thus, the TF-/- embryonic lethal and the FVII-/- survival-phenotypes suggest a role for TF during embryogenesis beyond fibrin formation. ..
  22. Aldeiri B, Roostalu U, Albertini A, Wong J, Morabito A, Cossu G. Transgelin-expressing myofibroblasts orchestrate ventral midline closure through TGF? signalling. Development. 2017;144:3336-3348 pubmed publisher
  23. Niu Z, Yu W, Zhang S, Barron M, Belaguli N, Schneider M, et al. Conditional mutagenesis of the murine serum response factor gene blocks cardiogenesis and the transcription of downstream gene targets. J Biol Chem. 2005;280:32531-8 pubmed
  24. Sousa V, Bellani S, Giannandrea M, Yousuf M, Valtorta F, Meldolesi J, et al. {alpha}-synuclein and its A30P mutant affect actin cytoskeletal structure and dynamics. Mol Biol Cell. 2009;20:3725-39 pubmed publisher
    ..Actin cytoskeletal disruption induced by the A30P mutant might alter various cellular processes and thereby play a role in the pathogenesis of neurodegeneration. ..
  25. Pavlov D, Muhlrad A, Cooper J, Wear M, Reisler E. Actin filament severing by cofilin. J Mol Biol. 2007;365:1350-8 pubmed
    ..These conclusions have particular relevance to cofilin function during actin-based motility in cells and in synthetic systems. ..
  26. Otsubo K, Goto H, Nishio M, Kawamura K, Yanagi S, Nishie W, et al. MOB1-YAP1/TAZ-NKX2.1 axis controls bronchioalveolar cell differentiation, adhesion and tumour formation. Oncogene. 2017;36:4201-4211 pubmed publisher
    ..Thus, a MOB1-YAP1/TAZ-NKX2.1 axis is essential for normal lung homeostasis and expression of the collagen XVII protein necessary for alveolar stem cell maintenance in the lung niche. ..
  27. Nudel U, Katcoff D, Zakut R, Shani M, Carmon Y, Finer M, et al. Isolation and characterization of rat skeletal muscle and cytoplasmic actin genes. Proc Natl Acad Sci U S A. 1982;79:2763-7 pubmed
    ..Several intron sites are conserved from at least the echinoderms to the vertebrates; others appear to be present in some actin genes and not in others. ..
  28. Peng X, Kraus M, Wei H, Shen T, Pariaut R, Alcaraz A, et al. Inactivation of focal adhesion kinase in cardiomyocytes promotes eccentric cardiac hypertrophy and fibrosis in mice. J Clin Invest. 2006;116:217-27 pubmed
    ..Together, these results provide strong evidence for a role of FAK in the regulation of heart hypertrophy in vivo. ..
  29. Abonia J, Abel K, Eddy R, Elliott R, Chapman V, Shows T, et al. Linkage of Agt and Actsk-1 to distal mouse chromosome 8 loci: a new conserved linkage. Mamm Genome. 1993;4:25-32 pubmed
    ..that the strain distribution pattern (SDP) for the mouse skeletal alpha-actin locus 1 (Actsk-1, previously Acta1, Acta, or Acts) is nearly identical to the SDP for Agt in two RI sets...
  30. Shin C, Liu Z, Passier R, Zhang C, Wang D, Harris T, et al. Modulation of cardiac growth and development by HOP, an unusual homeodomain protein. Cell. 2002;110:725-35 pubmed
    ..5. HOP does not bind DNA and acts as an antagonist of serum response factor (SRF), which regulates the opposing processes of proliferation and ..
  31. Liu Z, Li W, Ma X, Ding N, Spallotta F, Southon E, et al. Essential role of the zinc finger transcription factor Casz1 for mammalian cardiac morphogenesis and development. J Biol Chem. 2014;289:29801-16 pubmed publisher
    ..system development and function, such as muscle contraction genes TNNI2, TNNT1, and CKM; contractile fiber gene ACTA1; and cardiac arrhythmia associated ion channel coding genes ABCC9 and CACNA1D...
  32. Chattopadhyay S, Kaul R, Charest A, Housman D, Chen J. SMAR1, a novel, alternatively spliced gene product, binds the Scaffold/Matrix-associated region at the T cell receptor beta locus. Genomics. 2000;68:93-6 pubmed
    ..Smar1 transcripts are most abundant in the thymus and are alternatively spliced. The smar1 gene maps to the distal portion of mouse chromosome 8 at a distance of 111.8 cM. ..
  33. Disanza A, Carlier M, Stradal T, Didry D, Frittoli E, Confalonieri S, et al. Eps8 controls actin-based motility by capping the barbed ends of actin filaments. Nat Cell Biol. 2004;6:1180-8 pubmed
  34. He K, Hu J, Yu H, Wang L, Tang F, Gu J, et al. Serine/Threonine Kinase 40 (Stk40) Functions as a Novel Regulator of Skeletal Muscle Differentiation. J Biol Chem. 2017;292:351-360 pubmed publisher
    ..Together, our study reveals that Stk40 is required for fetal skeletal muscle development and provides molecular insights into the control of the HDAC5-MEF2 axis in skeletal myogenesis. ..
  35. Katcoff D, Nudel U, Zevin Sonkin D, Carmon Y, Shani M, Lehrach H, et al. Construction of recombinant plasmids containing rat muscle actin and myosin light chain DNA sequences. Proc Natl Acad Sci U S A. 1980;77:960-4 pubmed
    ..DNA of this plasmid hybridizes specifically with RNA extracted from muscle and differentiated muscle cultures but not with RNA extracted from proliferating mononucleated myogenic cells. ..
  36. Ohkawa Y, Marfella C, Imbalzano A. Skeletal muscle specification by myogenin and Mef2D via the SWI/SNF ATPase Brg1. EMBO J. 2006;25:490-501 pubmed
  37. Cooley M, Kern C, Fresco V, Wessels A, Thompson R, McQuinn T, et al. Fibulin-1 is required for morphogenesis of neural crest-derived structures. Dev Biol. 2008;319:336-45 pubmed publisher
  38. Barbosky L, Lawrence D, Karunamuni G, Wikenheiser J, Doughman Y, Visconti R, et al. Apoptosis in the developing mouse heart. Dev Dyn. 2006;235:2592-602 pubmed
    ..These findings suggest that cardiomyocyte apoptosis is an evolutionarily conserved mechanism for normal morphogenesis of the outflow tract myocardium in avian and mammalian species. ..
  39. Lyons G, Ontell M, Cox R, Sassoon D, Buckingham M. The expression of myosin genes in developing skeletal muscle in the mouse embryo. J Cell Biol. 1990;111:1465-76 pubmed
    ..The data presented are the first detailed study of myosin gene expression at these early stages of skeletal muscle development. ..
  40. Lescroart F, Mohun T, Meilhac S, Bennett M, Buckingham M. Lineage tree for the venous pole of the heart: clonal analysis clarifies controversial genealogy based on genetic tracing. Circ Res. 2012;111:1313-22 pubmed publisher
    ..Integration of results from genetic tracing into the lineage tree adds a further temporal dimension to this reconstruction of the history of venous myocardium and the arterial pole. ..
  41. Yamak A, Temsah R, Maharsy W, Caron S, Paradis P, Aries A, et al. Cyclin D2 rescues size and function of GATA4 haplo-insufficient hearts. Am J Physiol Heart Circ Physiol. 2012;303:H1057-66 pubmed publisher
    ..The finding that postnatal upregulation of a cell-cycle gene in GATA4 haplo-insufficient hearts may be protective opens new avenues for maintaining or restoring cardiac function in GATA4-dependent cardiac disease. ..
  42. Lakkis M, Venta P, Tashian R. Localization of the mitochondrial carbonic anhydrase V gene, Car5, on mouse chromosome 8. Mamm Genome. 1997;8:225-6 pubmed
  43. Lin A, Prochniewicz E, James Z, Svensson B, Thomas D. Large-scale opening of utrophin's tandem calponin homology (CH) domains upon actin binding by an induced-fit mechanism. Proc Natl Acad Sci U S A. 2011;108:12729-33 pubmed publisher
    ..There is no trace of this open conformation of utrophin in the absence of actin, providing strong support for an induced-fit model of actin binding. ..
  44. Makris G, Samuelson L, Lomax M. The gene encoding subunit IV of cytochrome c oxidase maps to mouse chromosome 8. Mamm Genome. 1996;7:789-90 pubmed
  45. Lindqvist J, Hardeman E, Ochala J. Sexually dimorphic myofilament function in a mouse model of nemaline myopathy. Arch Biochem Biophys. 2014;564:37-42 pubmed publisher
    ..However, the absence of sex-difference in the diaphragm muscles was rather unexpected and suggests that myofilament dysfunction does not solely underlie the sexually dimorphic phenotypes. ..
  46. Threadgill D, Threadgill D, Moll Y, Weiss J, Zhang N, Davey H, et al. Syntenic assignment of human chromosome 1 homologous loci in the bovine. Genomics. 1994;22:626-30 pubmed
    ..alpha 1A amylase, (AMY1), the neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), and alpha skeletal actin (ACTA1)...
  47. Trivedi C, Luo Y, Yin Z, Zhang M, Zhu W, Wang T, et al. Hdac2 regulates the cardiac hypertrophic response by modulating Gsk3 beta activity. Nat Med. 2007;13:324-31 pubmed
  48. Walsh C, Bestor T. Cytosine methylation and mammalian development. Genes Dev. 1999;13:26-34 pubmed
  49. Cox R, Garner I, Buckingham M. Transcriptional regulation of actin and myosin genes during differentiation of a mouse muscle cell line. Differentiation. 1990;43:183-91 pubmed
    ..In our culture system the expression of myosin light chains 1F and 3F, which are encoded by a single gene, is uncoupled, 3F predominating. These data are discussed in the context of gene regulation mechanisms...
  50. Schneider G, Nieznanski K, Jozwiak J, Slomnicki L, Redowicz M, Filipek A. Tubulin binding protein, CacyBP/SIP, induces actin polymerization and may link actin and tubulin cytoskeletons. Biochim Biophys Acta. 2010;1803:1308-17 pubmed publisher
    ..Interestingly, the co-sedimentation and proximity ligation assays indicated that CacyBP/SIP could simultaneously interact with tubulin and actin, suggesting that CacyBP/SIP might link actin and tubulin cytoskeletons. ..
  51. Lyons G, Buckingham M, Mannherz H. alpha-Actin proteins and gene transcripts are colocalized in embryonic mouse muscle. Development. 1991;111:451-4 pubmed
    ..In cardiac muscle, alpha-actin transcripts and proteins are abundantly expressed as soon as a cardiac tube forms. ..
  52. Valdez M, Richardson J, Klein W, Olson E. Failure of Myf5 to support myogenic differentiation without myogenin, MyoD, and MRF4. Dev Biol. 2000;219:287-98 pubmed
  53. Yin Z, Jones G, Towns W, Zhang X, Abel E, Binkley P, et al. Heart-specific ablation of Prkar1a causes failure of heart development and myxomagenesis. Circulation. 2008;117:1414-22 pubmed publisher
    ..These biochemical changes lead to myxoma-like changes, indicating that these mice may be a good model with which to study the formation of these tumors. ..
  54. Zhang W, Behringer R, Olson E. Inactivation of the myogenic bHLH gene MRF4 results in up-regulation of myogenin and rib anomalies. Genes Dev. 1995;9:1388-99 pubmed
    ..These results demonstrate an unanticipated regulatory relationship between myogenin and MRF4 and suggest that MRF4 influences rib outgrowth through an indirect mechanism. ..
  55. Garg A, O Rourke J, Long C, Doering J, Ravenscroft G, Bezprozvannaya S, et al. KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy. J Clin Invest. 2014;124:3529-39 pubmed publisher
    ..Loss of sarcomere thin filament proteins is a frequent cause of NM; therefore, our data that KLHL40 stabilizes NEB and LMOD3 provide a potential basis for the development of NM in KLHL40-deficient patients. ..
  56. Labosky P, Winnier G, Sasaki H, Blessing M, Hogan B. The chromosomal mapping of four genes encoding winged helix proteins expressed early in mouse development. Genomics. 1996;34:241-5 pubmed
    ..Since Mf3 is located in a region of Chromosome 9 containing many well-characterized mouse mutations such as short ear (se), ashen (ash), and dilute (d), we have analyzed deletion mutants to determine the location of Mf3 more precisely. ..
  57. Yuan B, Wan P, Chu D, Nie J, Cao Y, Luo W, et al. A cardiomyocyte-specific Wdr1 knockout demonstrates essential functional roles for actin disassembly during myocardial growth and maintenance in mice. Am J Pathol. 2014;184:1967-80 pubmed publisher
    ..Taken together, these results demonstrate that AIP1-regulated actin dynamics play essential roles in heart function in mice. ..
  58. Arora H, Boulberdaa M, Qureshi R, Bitirim V, Gasser A, Messaddeq N, et al. Prokineticin receptor-1 signaling promotes Epicardial to Mesenchymal Transition during heart development. Sci Rep. 2016;6:25541 pubmed publisher
    ..Our mice provide genetic models for congenital dysfunction of the heart and should facilitate studies of both pathogenesis and therapy of cardiac disorders in humans. ..
  59. Seldin M, D Hoostelaere L, Steinberg A. Mouse skeletal alpha actin has limited restriction fragment length polymorphism and is not a member of the human 1q-mouse distal chromosome 1 syntatic group. Nucleic Acids Res. 1987;15:1881 pubmed
  60. Cox R, Buckingham M. Actin and myosin genes are transcriptionally regulated during mouse skeletal muscle development. Dev Biol. 1992;149:228-34 pubmed
    ..Notably, transcription from the MLC3F promoter is activated after that of the MLC1F promoter, which is part of the same gene. These results are discussed in the context of published RNA data. ..
  61. VanHouten J, Asch H, Asch B. Cloning and characterization of ectopically expressed transcripts for the actin-binding protein MIPP in mouse mammary carcinomas. Oncogene. 2001;20:5366-72 pubmed
    ..Our results suggest that MIPP could contribute to malignant progression in the mouse mammary epithelial cells by perverting their response to cues from the extracellular matrix. ..
  62. Peng X, Wu X, Druso J, Wei H, Park A, Kraus M, et al. Cardiac developmental defects and eccentric right ventricular hypertrophy in cardiomyocyte focal adhesion kinase (FAK) conditional knockout mice. Proc Natl Acad Sci U S A. 2008;105:6638-43 pubmed publisher
    ..Last, we found that Src, but not PI3K, is important in mediating signal transduction for the regulation of MEF2a by FAK. Together, these results identified the role and mechanisms of FAK in embryonic cardiac development. ..
  63. Briggs L, Phelps A, Brown E, Kakarla J, Anderson R, van den Hoff M, et al. Expression of the BMP receptor Alk3 in the second heart field is essential for development of the dorsal mesenchymal protrusion and atrioventricular septation. Circ Res. 2013;112:1420-32 pubmed publisher
    ..Perturbation of Alk3-mediated BMP signaling from the SHF results in impaired development of the DMP and ostium primum defects. ..
  64. Matthews B, Torreggiani E, Roeder E, Matić I, Grcevic D, Kalajzic I. Osteogenic potential of alpha smooth muscle actin expressing muscle resident progenitor cells. Bone. 2016;84:69-77 pubmed publisher
    ..In contrast, muscle satellite cells make minimal contribution to bone formation in vivo. ..
  65. Chambliss A, Khatau S, Erdenberger N, Robinson D, Hodzic D, Longmore G, et al. The LINC-anchored actin cap connects the extracellular milieu to the nucleus for ultrafast mechanotransduction. Sci Rep. 2013;3:1087 pubmed publisher
    ..These results suggest an interconnected physical pathway for mechanotransduction, from the extracellular milieu to the nucleus...
  66. Xin M, Small E, van Rooij E, Qi X, Richardson J, Srivastava D, et al. Essential roles of the bHLH transcription factor Hrt2 in repression of atrial gene expression and maintenance of postnatal cardiac function. Proc Natl Acad Sci U S A. 2007;104:7975-80 pubmed
    ..These findings reveal a ventricular myocardial cell-autonomous function for Hrt2 in the suppression of atrial cell identity and the maintenance of postnatal cardiac function. ..
  67. Diehl A, Zareparsi S, Qian M, Khanna R, Angeles R, Gage P. Extraocular muscle morphogenesis and gene expression are regulated by Pitx2 gene dose. Invest Ophthalmol Vis Sci. 2006;47:1785-93 pubmed
  68. Davey H, Kelly J, Wildeman A. The nucleotide sequence, structure, and preliminary studies on the transcriptional regulation of the bovine alpha skeletal actin gene. DNA Cell Biol. 1995;14:609-18 pubmed
    ..Far upstream sequences reveal clusters of E boxes near -2,500 and -1,500. A minimal promoter element, to -297, which has no E boxes, is sufficient to activate transcription in myotubes derived from rat L6 and mouse C2C12 myoblasts. ..
  69. Lee M, Tasaki T, Moroi K, An J, Kimura S, Davydov I, et al. RGS4 and RGS5 are in vivo substrates of the N-end rule pathway. Proc Natl Acad Sci U S A. 2005;102:15030-5 pubmed
  70. Dilg D, Saleh R, Phelps S, Rose Y, Dupays L, Murphy C, et al. HIRA Is Required for Heart Development and Directly Regulates Tnni2 and Tnnt3. PLoS ONE. 2016;11:e0161096 pubmed publisher
    ..Thus, we show here that HIRA has locus-specific effects on gene expression and that histone chaperone activity is vital for normal heart development, impinging on pathways regulated by an established cardiac transcription factor. ..
  71. Tinklenberg J, Meng H, Yang L, Liu F, Hoffmann R, Dasgupta M, et al. Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy. Am J Pathol. 2016;186:1568-81 pubmed publisher
    ..We report a study of ActRIIB-mFc treatment in the Acta1 H40Y mouse model of NM...
  72. Poulsen R, McClaskey C, Rivkees S, Wendler C. The Sphingosine-1-phospate receptor 1 mediates S1P action during cardiac development. BMC Dev Biol. 2011;11:37 pubmed publisher
    ..S1P acts through five distinct cell surface receptors designated S1P1-5R, with S1P1R having the highest expression level in ..
  73. Kaestner K, Bleckmann S, Monaghan A, Schlondorff J, Mincheva A, Lichter P, et al. Clustered arrangement of winged helix genes fkh-6 and MFH-1: possible implications for mesoderm development. Development. 1996;122:1751-8 pubmed
    ..Based on the expression patterns we suggest that a mutation in MFH-1, not fkh-6 is the possible cause for the amputated phenotype. ..
  74. Czosnek H, Nudel U, Shani M, Barker P, Pravtcheva D, Ruddle F, et al. The genes coding for the muscle contractile proteins, myosin heavy chain, myosin light chain 2, and skeletal muscle actin are located on three different mouse chromosomes. EMBO J. 1982;1:1299-305 pubmed
    ..The skeletal muscle alpha-actin gene and several other actin genes, or pseudogenes, are located on chromosome 3. Additional actin DNA sequences are distributed on other mouse chromosomes. ..
  75. Sleigh J, Gómez Martín A, Wei N, Bai G, Yang X, Schiavo G. Neuropilin 1 sequestration by neuropathogenic mutant glycyl-tRNA synthetase is permissive to vascular homeostasis. Sci Rep. 2017;7:9216 pubmed publisher
    ..Our findings indicate that mutant GlyRS-mediated disruption of Nrp1/VEGF-A signalling is permissive to maturation and maintenance of the vasculature in CMT2D mice. ..
  76. Hu M, Sharp S, Davidson N. The complete sequence of the mouse skeletal alpha-actin gene reveals several conserved and inverted repeat sequences outside of the protein-coding region. Mol Cell Biol. 1986;6:15-25 pubmed
    ..The strong conservation of the inverted repeat sequences suggests that they may have a role in the tissue-specific expression of skeletal alpha-actin genes. ..
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    ..Besides, apoptosis may not participate in the development of esophageal muscularis externa. The smooth muscle cells from arch arteries may participate in the development of esophageal muscularis externa. ..
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    More than 200 mutations in the skeletal muscle ?-actin gene (ACTA1) cause either dominant or recessive skeletal muscle disease. Currently, there are no specific therapies...
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    ..the expression of molecules involved in muscle cell structure were observed; K+-depolarization increased Tnni1 and Acta1 mRNA levels in both differentiated C2C12 and rat skeletal muscle cells in primary culture...
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    ..Igf2 is therefore an essential player in the formation of a functional diaphragm in the absence of Myod...
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    ..congenital disease of skeletal muscle, can be caused by mutations in the skeletal muscle ?-actin gene (ACTA1) (~25% of all NM cases and up to 50% of severe forms of NM)...
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    ..abstract truncated at 400 words) ..