Structural and functional properties of the actin gene family

Critical Reviews in Eukaryotic Gene Expression

Volumn 21, Issue 3, 2011, Pages 255-266

  Bunnell, Tina M ^a   Ervasti, James M ^a  

^a UNIVERSITY OF MINNESOTA   (United States)

Author keywords

Actin isoforms; Cytoplasmic actins; Cytoskeleton; Muscle actins

Indexed keywords

ACTIN; ALPHA ACTIN; ISOPROTEIN;

ARTICLE; CAENORHABDITIS ELEGANS; CHEMICAL ANALYSIS; CYTOPLASM; DROSOPHILA; GENE FUNCTION; GENE STRUCTURE; MULTIGENE FAMILY; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN STRUCTURE; SEQUENCE HOMOLOGY;

ANIMALIA; EUKARYOTA;

EID: 81355154528     PISSN: 10454403     EISSN: None     Source Type: Journal    
DOI: 10.1615/CritRevEukarGeneExpr.v21.i3.30     Document Type: Article

References (105)

1. Hightower RC, Meagher RB. The molecular evolution of actin. Genetics. 1986 Sep;114(1):315-312.
2. Tobin SL, Cook PJ, Burn TC. Transcripts of individual Drosophila actin genes are differentially distributed during embryogenesis. Dev Genet. 1990;11(1):15-26.
3. Wagner CR, Mahowald AP, Miller KG. One of the two cytoplasmic actin isoforms in Drosophila is essential. Proc Natl Acad Sci U S A. 2002 Jun 11;99(12):8037-8042.
4. Fyrberg EA, Mahaffey JW, Bond BJ, Davidson N. Transcripts of the six Drosophila actin genes accumulate in a stage- and tissue-specific manner. Cell. 1983 May;33(1):115-123.
5. Fyrberg EA, Fyrberg CC, Biggs JR, Saville D, Beall CJ, Ketchum A. Functional nonequivalence of Drosophila actin isoforms. Biochem Genet. 1998 Aug;36(7-8):271-287.
6. Files JG, Carr S, Hirsh D. Actin gene family of Caenorhabditis elegans. J Mol Biol. 1983 Mar 5;164(3):355-375.
7. MacQueen AJ, Baggett JJ, Perumov N, Bauer RA, Januszewski T, Schriefer L, Waddle JA. ACT-5 is an es sential Caenorhabditis elegans actin required for intestinal microvilli formation. Mol Biol Cell. 2005 Jul;16(7):3247-3259.
8. Willis JH, Munro E, Lyczak R, Bowerman B. Conditional dominant mutations in the Caenorhabditis elegans gene act-2 identify cytoplasmic and muscle roles for a redundant actin isoform. Mol Biol Cell. 2006 Mar;17(3):1051-1064.
9. Vandekerckhove J, Weber K. At least six different actins are expressed in a higher mammal: an analysis based on the amino acid sequence of the amino-terminal tryptic peptide. J Mol Biol. 1978 Dec 25;126(4):783-802.
10. Rubenstein PA. The functional importance of multiple actin isoforms. Bioessays. 1990 Jul;12(7):309-15.
11. Perrin BJ, Ervasti JM. The actin gene family: function follows isoform. Cytoskeleton (Hoboken). 2010 Oct;67(10):630-634.
12. Kumar A, Crawford K, Close L, Madison M, Lorenz J, Doetschman T, Pawlowski S, Duffy J, Neumann J, Robbins J, Boivin GP, O'Toole BA, Lessard JL. Rescue of cardiac alpha-actin-deficient mice by enteric smooth muscle gamma-actin. Proc Natl Acad Sci U S A. 1997 Apr 29;94(9):4406-4411.
13. Schildmeyer LA, Braun R, Taffet G, Debiasi M, Burns AE, Bradley A, Schwartz RJ. Impaired vascular contractility and blood pressure homeostasis in the smooth muscle alpha-actin null mouse. FASEB J. 2000 Nov;14(14):2213-2220.
14. Haaksma CJ, Schwartz RJ, Tomasek JJ. Myoepithelial cell contraction and milk ejection are impaired in mammary glands of mice lacking smooth muscle alpha-actin. Biol Reprod. 2011 Jul;85(1):13-21.
15. Crawford K, Flick R, Close L, Shelly D, Paul R, Bove K, Kumar A, Lessard J. Mice lacking skeletal muscle actin show reduced muscle strength and growth deficits and die during the neonatal period. Mol Cell Biol. 2002 Aug;22(16):5887-5896.
16. Nowak KJ, Ravenscroft G, Jackaman C, Filipovska A, Davies SM, Lim EM, Squire SE, Potter AC, Baker E, Clement S, Sewry CA, Fabian V, Crawford K, Lessard JL, Griffiths LM, Papadimitriou JM, Shen Y, Morahan G, Bakker AJ, Davies KE, Laing NG. Rescue of skeletal muscle alpha-actin-null mice by cardiac (fetal) alpha-actin. J Cell Biol. 2009 Jun 1;185(5):903-915.
17. Jaeger MA, Sonnemann KJ, Fitzsimons DP, Prins KW, Ervasti JM. Context-dependent functional substitution of alpha-skeletal actin by gamma-cytoplasmic actin. FASEB J. 2009 Jul;23(7):2205-2214.
18. Otey CA, Kalnoski MH, Bulinski JC. Identification and quantification of actin isoforms in vertebrate cells and tissues. J Cell Biochem. 1987 Jun;34(2):113-124.
19. Erba HP, Eddy R, Shows T, Kedes L, Gunning P. Structure, chromosome location, and expression of the human gamma-actin gene: differential evolution, location, and expression of the cytoskeletal beta- and gamma-actin genes. Mol Cell Biol. 1988 Apr;8(4):1775-1789.
20. McHugh KM, Crawford K, Lessard JL. A comprehensive analysis of the developmental and tissue-specific expression of the isoactin multigene family in the rat. Dev Biol. 1991 Dec;148(2):442-458.
21. Khaitlina SY. Functional specificity of actin isoforms. Int Rev Cytol. 2001;202:35-98.
22. Schevzov G, Lloyd C, Gunning P. High level expression of transfected beta- and gamma-actin genes differentially impacts on myoblast cytoarchitecture. J Cell Biol. 1992 May;117(4):775-785.
23. Peckham M, Miller G, Wells C, Zicha D, Dunn GA. Specific changes to the mechanism of cell locomotion induced by overexpression of beta-actin. J Cell Sci. 2001 Apr;114(Pt 7):1367-1377.
24. Belyantseva IA, Perrin BJ, Sonnemann KJ, Zhu M, Stepanyan R, McGee J, Frolenkov GI, Walsh EJ, Friderici KH, Friedman TB, Ervasti JM. Gamma-actin is required for cytoskeletal maintenance but not development. Proc Natl Acad Sci U S A. 2009 Jun 16;106(24):9703-9708.
25. Bunnell TM, Burbach BJ, Shimizu Y, Ervasti JM. beta-Actin specifically controls cell growth, migration and the G-actin pool. Mol Biol Cell. In Press 2011.
26. Bunnell TM, Ervasti JM. Delayed embryonic development and impaired cell growth and survival in Actg1 null mice. Cytoskeleton (Hoboken). 2010 Sep;67(9):564-572.
27. Ervasti JM. Costameres: the Achilles' heel of Herculean muscle. J Biol Chem. 2003 Apr 18;278(16):13591-13594.
28. Prins KW, Call JA, Lowe DA, Ervasti JM. Quadriceps myopathy caused by skeletal muscle-specific ablation of beta(cyto)-actin. J Cell Sci. 2011 Mar 15;124(Pt 6):951-957.
29. Rybakova IN, Patel JR, Ervasti JM. The dystrophin complex forms a mechanically strong link between the sarcolemma and costameric actin. J Cell Biol. 2000 Sep 4;150(5):1209-1214.
30. Gokhin DS, Fowler VM. Cytoplasmic {gamma}-actin and tropomodulin isoforms link to the sarcoplasmic reticulum in skeletal muscle fibers. J Cell Biol. 2011 Jul 11;194(1):105-120.
31. Kee AJ, Schevzov G, Nair-Shalliker V, Robinson CS, Vrhovski B, Ghoddusi M, Qiu MR, Lin JJ, Weinberger R, Gunning PW, Hardeman EC. Sorting of a nonmuscle tropomyosin to a novel cytoskeletal compartment in skeletal muscle results in muscular dystrophy. J Cell Biol. 2004 Aug 30;166(5):685-696.
32. Sonnemann KJ, Fitzsimons DP, Patel JR, Liu Y, Schneider MF, Moss RL, Ervasti JM. Cytoplasmic gamma-actin is not required for skeletal muscle development but its absence leads to a progressive myopathy. Dev Cell. 2006 Sep;11(3):387-397.
33. Perrin BJ, Sonnemann KJ, Ervasti JM. beta-Actin and gamma-actin are each dispensable for auditory hair cell development but required for stereocilia maintenance. PLoS Genet. 2010;6(10):e1001158.
34. Tondeleir D, Vandamme D, Vandekerckhove J, Ampe C, Lambrechts A. Actin isoform expression patterns during mammalian development and in pathology: insights from mouse models. Cell Motil Cytoskeleton. 2009 Oct;66(10):798-815.
35. Zheng B, Han M, Bernier M, Wen JK. Nuclear actin and actin-binding proteins in the regulation of transcription and gene expression. FEBS J. 2009 May;276(10):2669-2685.
36. Spencer VA, Costes S, Inman JL, Xu R, Chen J, Hendzel MJ, Bissell MJ. Depletion of nuclear actin is a key mediator of quiescence in epithelial cells. J Cell Sci. 2011 Jan 1;124(Pt 1):123-32.
37. Xu YZ, Thuraisingam T, Morais DA, Rola-Pleszczynski M, Radzioch D. Nuclear translocation of beta-actin is involved in transcriptional regulation during macrophage differentiation of HL-60 cells. Mol Biol Cell. 2010 Mar 1;21(5):811-20.
38. Olson EN, Nordheim A. Linking actin dynamics and gene transcription to drive cellular motile functions. Nat Rev Mol Cell Biol. 2010 May;11(5):353-365.
39. Mouilleron S, Langer CA, Guettler S, McDonald NQ, Treisman R. Structure of a pentavalent G-actin*MRTF-A complex reveals how G-actin controls nucleocytoplasmic shuttling of a transcriptional coactivator. Sci Signal. 2011;4(177):ra 40.
40. Luxenburg C, Pasolli HA, Williams SE, Fuchs E. Developmental roles for Srf, cortical cytoskeleton and cell shape in epidermal spindle orientation. Nat Cell Biol. 2011 Mar;13(3):203-214.
41. Dugina V, Zwaenepoel I, Gabbiani G, Clement S, Chaponnier C. Beta and gamma-cytoplasmic actins display distinct distribution and functional diversity. J Cell Sci. 2009 Aug 15;122(Pt 16):2980-2988.
42. Shawlot W, Deng JM, Fohn LE, Behringer RR. Restricted beta-galactosidase expression of a hygromycin-lacZ gene targeted to the beta-actin locus and embryonic lethality of beta-actin mutant mice. Transgenic Res. 1998 Mar;7(2):95-103.
43. Shmerling D, Danzer CP, Mao X, Boisclair J, Haffner M, Lemaistre M, Schuler V, Kaeslin E, Korn R, Burki K, Ledermann B, Kinzel B, Muller M. Strong and ubiquitous expression of transgenes targeted into the beta-actin locus by Cre/lox cassette replacement. Genesis. 2005 Aug;42(4):229-235.
44. Bergeron SE, Zhu M, Thiem SM, Friderici KH, Rubenstein PA. Ion-dependent polymerization differences between mammalian beta- and gamma-nonmuscle actin isoforms. J Biol Chem. 2010 May 21;285(21):16087-16095.
45. Lyubimova A, Bershadsky AD, Ben-Ze'ev A. Autoregulation of actin synthesis responds to monomeric actin levels. J Cell Biochem. 1997 Jun 15;65(4):469-478.
46. Lyubimova A, Bershadsky AD, Ben-Ze'ev A. Autoregulation of actin synthesis requires the 3′-UTR of actin mRNA and protects cells from actin overproduction. J Cell Biochem. 1999 Nov;76(1):1-12.
47. Miano JM, Long X, Fujiwara K. Serum response factor: master regulator of the actin cytoskeleton and contractile apparatus. Am J Physiol Cell Physiol. 2007 Jan;292(1):C70-C81.
48. Lloyd C, Gunning P. Noncoding regions of the gamma-actin gene influence the impact of the gene on myoblast morphology. J Cell Biol. 1993 Apr;121(1):73-82.
49. Hill MA, Schedlich L, Gunning P. Serum-induced signal transduction determines the peripheral location of beta-actin mRNA within the cell. J Cell Biol. 1994 Sep;126(5):1221-1229.
50. Hill MA, Gunning P. Beta and gamma actin mRNAs are differentially located within myoblasts. J Cell Biol. 1993 Aug;122(4):825-832.
51. Bassell GJ, Zhang H, Byrd AL, Femino AM, Singer RH, Taneja KL, Lifshitz LM, Herman IM, Kosik KS. Sorting of beta-actin mRNA and protein to neurites and growth cones in culture. J Neurosci. 1998 Jan 1;18(1):251-265.
52. Micheva KD, Vallee A, Beaulieu C, Herman IM, Leclerc N. beta-Actin is confined to structures having high capacity of remodelling in developing and adult rat cerebellum. Eur J Neurosci. 1998 Dec;10(12):3785-3798.
53. Larsson H, Lindberg U. The effect of divalent cations on the interaction between calf spleen profilin and different actins. Biochim Biophys Acta. 1988 Mar 2;953(1):95-105.
54. Namba Y, Ito M, Zu Y, Shigesada K, Maruyama K. Human T cell L-plastin bundles actin filaments in a calcium-dependent manner. J Biochem. 1992 Oct;112(4):503-507.
55. Ohshima S, Abe H, Obinata T. Isolation of profilin from embryonic chicken skeletal muscle and evaluation of its interaction with different actin isoforms. J Biochem. 1989 Jun;105(6):855-857.
56. Shuster CB, Lin AY, Nayak R, Herman IM. Beta cap73: a novel beta actin-specific binding protein. Cell Motil Cytoskeleton. 1996;35(3):175-187.
57. Weber A, Nachmias VT, Pennise CR, Pring M, Safer D. Interaction of thymosin beta 4 with muscle and platelet actin: implications for actin sequestration in resting platelets. Biochemistry. 1992 Jul 14;31(27):6179-6185.
58. Yao X, Cheng L, Forte JG. Biochemical characterization of ezrin-actin interaction. J Biol Chem. 1996 Mar 22;271(12):7224-7229.
59. Shuster CB, Herman IM. Indirect association of ezrin with F-actin: isoform specificity and calcium sensitivity. J Cell Biol. 1995 Mar;128(5):837-848.
60. Tzima E, Trotter PJ, Orchard MA, Walker JH. Annexin V relocates to the platelet cytoskeleton upon activation and binds to a specific isoform of actin. Eur J Biochem. 2000 Aug;267(15):4720-4730.
61. Fujii T, Iwane AH, Yanagida T, Namba K. Direct visu alization of secondary structures of F-actin by electron cryomicroscopy. Nature. 2010 Oct 7;467(7316):724-728.
62. Galkin VE, Orlova A, Schroder GF, Egelman EH. Structural polymorphism in F-actin. Nat Struct Mol Biol. 2010 Nov;17(11):1318-1323.
63. Muneyuki E, Nishida E, Sutoh K, Sakai H. Purification of cofilin, a 21,000 molecular weight actin-binding protein, from porcine kidney and identification of the cofilin-binding site in the actin sequence. J Biochem. 1985 Feb;97(2):563-568.
64. Sutoh K, Hatano S. Actin-fragmin interactions as revealed by chemical cross-linking. Biochemistry. 1986 Jan 28;25(2):435-440.
65. Sutoh K, Mabuchi I. End-label fingerprintings show that an N-terminal segment of depactin participates in interaction with actin. Biochemistry. 1989 Jan 10;28(1):102-106.
66. Sutoh K, Yin HL. End-label fingerprintings show that the N- and C-termini of actin are in the contact site with gelsolin. Biochemistry. 1989 Jun 13;28(12):5269-5275.
67. Hansen JE, Marner J, Pavlov D, Rubenstein PA, Reisler E. Structural transition at actin's N-terminus in the actomyosin cross-bridge cycle. Biochemistry. 2000 Feb 22;39(7):1792-1799.
68. Prochniewicz E, Thomas DD. Differences in structural dynamics of muscle and yeast actin accompany differences in functional interactions with myosin. Biochemistry. 1999 Nov 9;38(45):14860-14867.
69. Stokasimov E, Rubenstein PA. Actin isoform-specific conformational differences observed with hydrogen/deuterium exchange and mass spectrometry. J Biol Chem. 2009 Sep 11;284(37):25421-25430.
70. Kim E, Miller CJ, Reisler E. Polymerization and in vitro motility properties of yeast actin: a comparison with rabbit skeletal alpha-actin. Biochemistry. 1996 Dec 24;35(51):16566-16572.
71. Allen PG, Shuster CB, Kas J, Chaponnier C, Janmey PA, Herman IM. Phalloidin binding and rheological differences among actin isoforms. Biochemistry. 1996 Nov 12;35(45):14062-9.
72. Orlova A, Rybakova IN, Prochniewicz E, Thomas DD, Ervasti JM, Egelman EH. Binding of dystrophin's tandem calponin homology domain to F-actin is modulated by actin's structure. Biophys J. 2001 Apr;80(4):1926-1931.
73. De La Cruz EM, Pollard TD. Kinetics and thermodynamics of phalloidin binding to actin filaments from three divergent species. Biochemistry. 1996 Nov 12;35(45):14054-14061.
74. Galkin VE, Orlova A, VanLoock MS, Shvetsov A, Reisler E, Egelman EH. ADF/cofilin use an intrinsic mode of F-actin instability to disrupt actin filaments. J Cell Biol. 2003 Dec 8;163(5):1057-1066.
75. McGough A, Pope B, Chiu W, Weeds A. Cofilin changes the twist of F-actin: implications for actin filament dynamics and cellular function. J Cell Biol. 1997 Aug 25;138(4):771-781.
76. De La Cruz EM. Cofilin binding to muscle and non-muscle actin filaments: isoform-dependent cooperative interactions. J Mol Biol. 2005 Feb 18;346(2):557-564.
77. Buzan JM, Frieden C. Yeast actin: polymerization kinetic studies of wild type and a poorly polymerizing mutant. Proc Natl Acad Sci U S A. 1996 Jan 9;93(1):91-95.
78. Wei C, Wang X, Chen M, Ouyang K, Song LS, Cheng H. Calcium flickers steer cell migration. Nature. 2009 Feb 12;457(7231):901-905.
79. Webb SE, Li WM, Miller AL. Calcium signalling during the cleavage period of zebrafish development. Philos Trans R Soc Lond B Biol Sci. 2008 Apr 12;363(1495):1363-1369.
80. Kislauskis EH, Zhu X, Singer RH. Sequences responsible for intracellular localization of beta-actin messenger RNA also affect cell phenotype. J Cell Biol. 1994 Oct;127(2):441-451.
81. Ross AF, Oleynikov Y, Kislauskis EH, Taneja KL, Singer RH. Characterization of a beta-actin mRNA zipcode-binding protein. Mol Cell Biol. 1997 Apr;17(4):2158-2165.
82. Huttelmaier S, Zenklusen D, Lederer M, Dictenberg J, Lorenz M, Meng X, Bassell GJ, Condeelis J, Singer RH. Spatial regulation of beta-actin translation by Src-dependent phosphorylation of ZBP1. Nature. 2005 Nov 24;438(7067):512-515.
83. Leung KM, van Horck FP, Lin AC, Allison R, Standart N, Holt CE. Asymmetrical beta-actin mRNA translation in growth cones mediates attractive turning to netrin-1. Nat Neurosci. 2006 Oct;9(10):1247-1256.
84. 2+-dependent growth cone guidance. Nat Neurosci. 2006 Oct;9(10):1265-1273.
85. Farina KL, Huttelmaier S, Musunuru K, Darnell R, Singer RH. Two ZBP1 KH domains facilitate beta-actin mRNA localization, granule formation, and cytoskeletal attachment. J Cell Biol. 2003 Jan 6;160(1):77-87.
86. Roche FK, Marsick BM, Letourneau PC. Protein synthesis in distal axons is not required for growth cone responses to guidance cues. J Neurosci. 2009 Jan 21;29(3):638-652.
87. Cheever TR, Olson EA, Ervasti JM. Axonal regeneration and neuronal function are preserved in motor neurons lacking ss-actin in vivo. PLoS One. 2011;6(3):e17768.
88. Zhang F, Saha S, Shabalina SA, Kashina A. Differential arginylation of actin isoforms is regulated by coding sequence-dependent degradation. Science. 2010 Sep 17;329(5998):1534-7.
89. Karakozova M, Kozak M, Wong CC, Bailey AO, Yates JR, 3rd, Mogilner A, Zebroski H, Kashina A. Arginylation of beta-actin regulates actin cytoskeleton and cell motility. Science. 2006 Jul 14;313(5784):192-196.
90. Laing NG, Dye DE, Wallgren-Pettersson C, Richard G, Monnier N, Lillis S, Winder TL, Lochmuller H, Graziano C, Mitrani-Rosenbaum S, Twomey D, Sparrow JC, Beggs AH, Nowak KJ. Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Hum Mutat. 2009 Sep;30(9):1267-1277.
91. Monserrat L, Hermida-Prieto M, Fernandez X, Rodriguez I, Dumont C, Cazon L, Cuesta MG, Gonzalez-Juanatey C, Peteiro J, Alvarez N, Penas-Lado M, Castro-Beiras A. Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. Eur Heart J. 2007 Aug;28(16):1953-1961.
92. Olson TM, Doan TP, Kishimoto NY, Whitby FG, Ackerman MJ, Fananapazir L. Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. J Mol Cell Cardiol. 2000 Sep;32(9):1687-1694.
93. Olson TM, Michels VV, Thibodeau SN, Tai YS, Keating MT. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science. 1998 May 1;280(5364):750-752.
94. Guo DC, Pannu H, Tran-Fadulu V, Papke CL, Yu RK, Avidan N, Bourgeois S, Estrera AL, Safi HJ, Sparks E, Amor D, Ades L, McConnell V, Willoughby CE, Abuelo D, Willing M, Lewis RA, Kim DH, Scherer S, Tung PP, Ahn C, Buja LM, Raman CS, Shete SS, Milewicz DM. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet. 2007 Dec;39(12):1488-1493.
95. Guo DC, Papke CL, Tran-Fadulu V, Regalado ES, Avidan N, Johnson RJ, Kim DH, Pannu H, Willing MC, Sparks E, Pyeritz RE, Singh MN, Dalman RL, Grotta JC, Marian AJ, Boerwinkle EA, Frazier LQ, LeMaire SA, Coselli JS, Estrera AL, Safi HJ, Veeraraghavan S, Muzny DM, Wheeler DA, Willerson JT, Yu RK, Shete SS, Scherer SE, Raman CS, Buja LM, Milewicz DM. Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. Am J Hum Genet. 2009 May;84(5):617-627.
96. Morin M, Bryan KE, Mayo-Merino F, Goodyear R, Mencia A, Modamio-Hoybjor S, del Castillo I, Cabalka JM, Richardson G, Moreno F, Rubenstein PA, Moreno-Pelayo MA. In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment. Hum Mol Genet. 2009 Aug 15;18(16):3075-3089.
97. van Wijk E, Krieger E, Kemperman MH, De Leenheer EM, Huygen PL, Cremers CW, Cremers FP, Kremer H. A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26). J Med Genet. 2003 Dec;40(12):879-884.
98. Zhu M, Yang T, Wei S, DeWan AT, Morell RJ, Elfenbein JL, Fisher RA, Leal SM, Smith RJ, Friderici KH. Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26). Am J Hum Genet. 2003 Nov;73(5):1082-1091.
99. Procaccio V, Salazar G, Ono S, Styers ML, Gearing M, Davila A, Jimenez R, Juncos J, Gutekunst CA, Meroni G, Fontanella B, Sontag E, Sontag JM, Faundez V, Wainer BH. A mutation of beta-actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. Am J Hum Genet. 2006 Jun;78(6):947-960.
100. Nunoi H, Yamazaki T, Tsuchiya H, Kato S, Malech HL, Matsuda I, Kanegasaki S. A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection. Proc Natl Acad Sci U S A. 1999 Jul 20;96(15):8693-8698.
101. Chaponnier C, Gabbiani G. Pathological situations characterized by altered actin isoform expression. J Pathol. 2004 Nov;204(4):386-395.
102. Verrills NM, Po'uha ST, Liu ML, Liaw TY, Larsen MR, Ivery MT, Marshall GM, Gunning PW, Kavallaris M. Alterations in gamma-actin and tubulin-targeted drug resistance in childhood leukemia. J Natl Cancer Inst. 2006 Oct 4;98(19):1363-1374.
103. Le PU, Nguyen TN, Drolet-Savoie P, Leclerc N, Nabi IR. Increased beta-actin expression in an invasive moloney sarcoma virus-transformed MDCK cell variant concentrates to the tips of multiple pseudopodia. Cancer Res. 1998 Apr 15;58(8):1631-1635.
104. Nowak D, Skwarek-Maruszewska A, Zemanek-Zboch M, Malicka-Blaszkiewicz M. Beta-actin in human colon adenocarcinoma cell lines with different metastatic potential. Acta Biochim Pol. 2005;52(2):461-468.
105. Popow A, Nowak D, Malicka-Blaszkiewicz M. Actin cytoskeleton and beta-actin expression in correlation with higher invasiveness of selected hepatoma Morris 5123 cells. J Physiol Pharmacol. 2006 Nov;57 Suppl 7:111-123.