Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy

Human Molecular Genetics

Volumn 8, Issue 7, 1999, Pages 1329-1336

  Salmikangas, Paula ^a   Mykkänen, Olli Matti ^a   Grönholm, Mikaela ^a   Heiska, Leena ^a   Kere, Juha ^a   Carpén, Olli ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN; ALPHA ACTININ; CONNECTIN; IMMUNOGLOBULIN; MYOSIN; MYOTILIN; PROTEIN; STRUCTURAL PROTEIN; UNCLASSIFIED DRUG;

AMINO TERMINAL SEQUENCE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CARDIOMYOPATHY; CHROMOSOME 5Q; GENE LOCUS; GENE MAPPING; GENE MUTATION; HEART MUSCLE; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MUSCLE CONTRACTION; MYOFILAMENT; NUCLEOTIDE SEQUENCE; PHARYNX; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; SARCOLEMMA; SARCOMERE; SKELETAL MUSCLE; THIN FILAMENT; VOCAL CORD;

ACTININ; AMINO ACID SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 5; CYTOSKELETAL PROTEINS; DNA, COMPLEMENTARY; GENE EXPRESSION; HUMANS; IMMUNOGLOBULINS; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; PROTEIN CONFORMATION; SARCOMERES; SEQUENCE HOMOLOGY, AMINO ACID; SUBCELLULAR FRACTIONS;

EID: 0344759163     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.7.1329     Document Type: Article

References (34)

1. Fürst, D.O. and Gautel, M. (1995) The anatomy of a molecular giant: how the sarcomere cytoskelelon is assembled from immunoglobulin superfamily molecules. J. Mol Cardiol., 27, 951-959.
2. Keller, T.C. III (1995) Structure and function of titin and nebulin. Curr. Opin. Cell Biol., 7, 32-38.
3. Blanchard, A., Ohanian, V. and Critchley, D. (1989) The structure and function of α-actinin. J. Muscle Res. Cell Motil., 10, 280-289.
4. Labeit, S. and Kolmerer, B. (1995) Titins: giant proteins in charge of muscle ultrastructure and elasticity. Science, 270, 293-296.
5. Fowler, V.M. (1996) Regulation of actin filament length in erythrocytes and striated muscle. Curr. Opin. Cell Biol., 8, 86-96.
6. Gautel, M., Goulding, D., Bullard, B., Weber, K. and Fürst, O. (1996) The central Z-disk region of titin is assembled from a novel repeat in variable copy numbers. J. Cell Sci., 109, 2747-2754.
7. Maruyama, K. (1997) Connectin/titin, giant elastic protein of muscle. FASEB J., 11, 341-345.
8. Young, P., Ferguson, C., Banuelos, S. and Gautel, M. (1998) Molecular structure of the sarcomeric Z-disk: two types of titin interaction lead to an asymmetrical sorting of α-actinin. EMBO J., 17, 1614-1624.
9. Brown, R.H. Jr (1996) Dystrophin-associated proteins and the muscular dystrophies: a glossary. Brain Pathol., 6, 19-24.
10. Ozawa, E., Noguchi, S., Mizuno, Y., Hagiwara, Y. and Yoshida, M. (1998) From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. Muscle Nerve, 21, 421-438.
11. Olson, T.M., Michels, V.V., Thibodeau, S.N., Tai, Y.-S. and Keating, M.T. (1998) Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science, 280, 750-752.
12. Towbin, J.A. (1998) The role of cytoskeletal proteins in cardiomyopathies. Curr. Opin. Cell Biol., 10, 131-139.
13. Laing, N.G., Wilton, S.D., Akkari, P.A., Dorosz, S., Boundy, K., Kneebone, C., Blumbergs, P., White, S., Watkins, H., Love, D.R. and Haan, E. (1995) A mutation in the α-tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Nature Genet., 9, 75-79.
14. Pelin, K., Hilpelä, P., Donner, K., Sewry, C., Akkari, P.A., Wilton, S.D., Wattanasirichaigoon, D., Bang, M.-L., Centner, T., Hanefeld, F., Odent, S., Fardeau, M., Urtizberea, J.A., Muntoni, F., Dubowitz, V., Beggs, A.H., Laing, N.G., Labeit, S., de la Chapelle, A. and Wallgren-Pettersson, C. (1999) Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc. Natl Acad. Sci. USA, 96, 2305-2310.
15. Haravuori, H., Makela-Bengs, P., Udd, B., Partanen, J., Pulkkinen, L., Somer, H. and Peltonen, L. (1998) Assignment of the tibial muscular dystrophy locus to chromosome 2q31. Am. J. Hum. Genet., 62, 620-626.
16. Bartoloni, L., Horrigan, S.K., Viles, K.D., Gilchrist, J.M., Stajich, J.M., Vance, J.M., Yamaoka, L.H., Pericak-Vance, M., Westbrook, C.A. and Speer, M.C. (1998) Use of CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31. Genomics, 54, 250-255.
17. Feit, H., Silbergleit, A., Schneider, L.B., Gutierrez, J.A., Fitoussi, R.-P., Réyès, C., Rouleau, G.A., Brais, B., Jackson, C.E., Beckmann, J.S. and Seboun, E. (1998) Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31. Am. J. Hum. Genet., 63, 1732-1742.
18. Williams, A.F. and Barclay, A.N. (1988) The immunoglobulin superfamily-domains for cell surface recognition. Annu. Rev. Immunol., 6, 381-405.
19. Kahana, E. and Gratzer, W.B. (1991) Properties of the spectrin-like structural element of smooth-muscle α-actinin. Cell Motil. Cytoskel., 20, 242-248.
20. Flood, G., Kahana, E., Gilmore, A.P., Rowe, A.J., Gratzer, W.B. and Critchley, D.R. (1995) Association of structural repeats in the α-actinin rod domain. Alignment of inter-subunit interactions. J. Mol. Biol., 252, 227-234.
21. Yajima, H., Ohtsuka, H., Kawamura, Y., Kume, H., Murayama, T., Abe, H., Kimura, S. and Maruyama, K. (1996) A 11.5-kb 5′ terminal cDNA sequence of chicken breast muscle connectin/titin reveals its Z line binding region. Biochem. Biophys. Res. Commun., 223, 160-164.
22. Puius, Y.A., Mahoney, N.M. and Almo, S.C. (1998) The modular structure of actin-regulatory proteins. Curr. Opin. Cell Biol., 10, 23-34.
23. Jeng, C.J. and Wang, S.M. (1992) Interaction between titin and α-actinin. Biomed. Res., 13, 197-202.
24. Ohtsuka, H., Yajami, H., Maruyama, K. and Kimura, S. (1997) The N-terminal Z repeat 5 of connectin/titin binds to the C-terminal region of α-actinin. Biochem. Biophys. Res. Commun., 235, 1-3.
25. Mimura, N. and Asano, A. (1986) Isolation and characterization of a conserved actin-binding domain from rat hepatic actinogelin, rat skeletal muscle, and chicken gizzard alpha-actinins. J. Biol. Chem., 261, 10680-10687.
26. Pavalko, F.M. and Burridge, K. (1991) Disruption of the actin cytoskeleton after microinjection of proteolytic fragments of alpha-actinin. J. Cell Biol., 114, 481-491.
27. Crawford, A.W., Michelsen, J.W. and Beckerle, M.C. (1992) An interaction between zyxin and alpha-actinin. J. Cell Biol., 116, 1381-1393.
28. Pomiès, P., Louis, H. and Beckerle, M. (1997) CRP1, a LIM domain protein implicated in muscle differentation, interacts with α-actinin. J. Cell Biol., 139, 157-168.
29. Xia, H., Winokur, S., Kuo, W.-L., Altherr, M.R. and Bredt, D.S. (1997) Actinin-associated LIM protein: identification of a domain interaction between PDZ and spectrin-like repeat motifs. J. Cell Biol., 139, 507-515.
30. Knight, P.J. and Trinick, J.A. (1982) Preparation of myofibrils. Methods Enzymol., 85, 9-12.
31. Närvänen, O., Närvänen, A., Wasenius, V.-M., Partanen, P. and Virtanen, I. (1987) A monoclonal antibody against a synthetic peptide reveals common structures among spectrins and α-actinin. FEBS Lett., 224, 156-160.
32. 1 and S phase protein phosphatase that associates with Cdk2. Cell, 75, 791-803.
33. Raghuraman, M., Brewer, B. and Fangman, W. (1994) Activation of a yeast replication origin near a double-stranded DNA break. Genes Dev., 8, 554-562.
34. Laitinen, T., Kauppi, P., Ignatius, J., Ruotsalainen, T., Daly, M.J., Kääriäinen, H., Kruglyak, L., Laitinen, H., de la Chapelle, A., Lander, E.S., Laitinen, L.A. and Kere, J. (1997) Genetic control of serum IgE levels and asthma: linkage and linkage disequilibrium studies in an isolated population. Hum. Mol. Genet., 6, 2069-2076.