Cell-specific RNA-binding proteins in human disease

Trends in Cardiovascular Medicine

Volumn 13, Issue 5, 2003, Pages 188-195

  Musunuru, Kiran ^a  

^a ROCKEFELLER UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLOBIN; ALPHA GLOBIN MRNA STABILITY COMPLEX PROTEIN; AUTOANTIGEN; CUG REPEAT RNA BINDING PROTEIN; CUG REPEAT RNA BINDING PROTEIN LIKE FACTOR; ELAV LIKE RNA BINDING PROTEIN 3; ELAV LIKE RNA BINDING PROTEIN 3 LIKE FACTOR; MESSENGER RNA; PROTEIN; PROTEIN HUA; PROTEIN HUB; PROTEIN HUE; PROTEIN KINASE; PROTEIN NOVA1; RNA BINDING PROTEIN; SARCOPLASMIC RETICULUM CALCIUM ADENOSINE TRIPHOSPHATASE 2; UNCLASSIFIED DRUG;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ALPHA THALASSEMIA; ALTERNATIVE RNA SPLICING; AMINO TERMINAL SEQUENCE; APOPTOSIS; BETA SHEET; BETA THALASSEMIA; BINDING SITE; CARBOXY TERMINAL SEQUENCE; CARDIOVASCULAR DISEASE; CELL SPECIFICITY; CELL TYPE; CRYSTAL STRUCTURE; DEGENERATIVE DISEASE; ENCEPHALOMYELITIS; EXON; FRAGILE X SYNDROME; HEART DEVELOPMENT; HUMAN; INTRON; MOTOR DYSFUNCTION; MUSCLE DEVELOPMENT; MYOTONIC DYSTROPHY; NERVE CELL; NERVE CELL NECROSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PARANEOPLASTIC OPSOCLONUS MYOCLONUS ATAXIA; PARANEOPLASTIC SYNDROME; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN MOTIF; SENSORY NEUROPATHY; SEQUENCE HOMOLOGY; SHORT SURVEY; SKELETAL MUSCLE; STRUCTURE ACTIVITY RELATION; TISSUE DISTRIBUTION; TRANSLATION REGULATION;

EID: 0037678415     PISSN: 10501738     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1050-1738(03)00075-6     Document Type: Review

References (69)

1. Aasheim H.C., Loukianova T., Deggerdal A.et al. Tissue specific expression and cDNA structure of a human transcript encoding a nucleic acid binding [oligo(dC)] protein related to the pre-mRNA binding protein K. Nucleic Acids Res. 22:1994;959-964.
2. Ashley C.T. Jr., Wilkinson K.D., Reines D.et al. FMR1 protein. conserved RNP family domains and selective RNA binding Science. 262:1993;563-566.
3. Berul C.I., Maguire C.T., Aronovitz M.J.et al. DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model. J Clin Invest. 103:1999;R1-R7.
4. Brook J.D., McCurrach M.E., Harley H.G.et al. Molecular basis of myotonic dystrophy. expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member Cell. 68:1992;799-808.
5. Buckanovich R.J., Darnell R.B. The neuronal RNA binding protein Nova-1 recognizes specific RNA targets in vitro and in vivo. Mol Cell Biol. 17:1997;3194-3201.
6. Buckanovich R.J., Posner J.B., Darnell R.B. Nova, the paraneoplastic Ri antigen, is homologous to an RNA-binding protein and is specifically expressed in the developing motor system. Neuron. 11:1993;657-672.
7. Buckanovich R.J., Yang Y.Y., Darnell R.B. The onconeural antigen Nova-1 is a neuron-specific RNA-binding protein, the activity of which is inhibited by paraneoplastic antibodies. J Neurosci. 16:1996;1114-1122.
8. Burd C.G., Dreyfuss G. Conserved structures and diversity of functions of RNA-binding proteins. Science. 265:1994;615-621.
9. Chan R.C., Black D.L. The polypyrimidine tract binding protein binds upstream of neural cell-specific c-src exon N1 to repress the splicing of the intron downstream. Mol Cell Biol. 17:1997;4667-4676.
10. Charlet-B N., Logan P., Singh G.et al. Dynamic antagonism between ETR-3 and PTB regulates cell type-specific alternative splicing. Mol Cell. 9:2002;649-658. a.
11. Charlet-B N., Savkur R.S., Singh G.et al. Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol Cell. 10:2002;45-53. b.
12. Clegg J.B., Weatherall D.J., Milner P.F. Haemoglobin Constant Spring - a chain termination mutant? Nature. 234:1971;337-340.
13. Cooper T.A., Ordahl C.P. A single cardiac troponin T gene generates embryonic and adult isoforms via developmentally regulated alternate splicing. J Biol Chem. 260:1985;11,140-11,148.
14. Czyzyk-Krzeska M.F., Bendixen A.C. Identification of the poly(C) binding protein in the complex associated with the 3′ untranslated region of erythropoietin messenger RNA. Blood. 93:1999;2111-2120.
15. Deo R.C., Bonanno J.B., Sonenberg N.et al. Recognition of polyadenylate RNA by the poly(A)-binding protein. Cell. 98:1999;835-845.
16. 2+ pump in pig smooth muscle. Biochem J. 266:1990;901-907.
17. Fu Y.H., Pizzuti A., Fenwick R.G.et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science. 255:1992;1256-1258.
18. Gamarnik A.V., Andino R. Two functional complexes formed by KH domain containing proteins with the 5′ noncoding region of poliovirus RNA. RNA. 3:1997;882-892.
19. Gamarnik A.V., Andino R. Switch from translation to RNA replication in a positive-stranded RNA virus. Genes Dev. 12:1998;2293-2304.
20. Gesteland R.F., Cech T.R., Atkins J.F. The RNA World. 2nd ed:1999;New York, Cold Spring Harbor Laboratory Press, Cold Spring Harbor.
21. Handa N., Nureki O., Kurimoto K.et al. Structural basis for recognition of the tra mRNA precursor by the Sex-lethal protein. Nature. 398:1999;579-585.
22. Jansen G., Groenen P.J., Bachner D.et al. Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. Nat Genet. 13:1996;316-324.
23. Jensen K.B., Dredge B.K., Stefani G.et al. Nova-1 regulates neuron-specific alternative splicing and is essential for neuronal viability. Neuron. 25:2000;359-371. a.
24. Jensen K.B., Musunuru K., Lewis H.A.et al. The tetranucleotide UCAY directs the specific recognition of RNA by the Nova K-homology 3 domain. Proc Natl Acad Sci USA. 97:2000;5740-5745. b.
25. Keene J.D. Why is Hu where? Shuttling of early-response-gene messenger RNA subsets. Proc Natl Acad Sci USA. 96:1999;5-7.
26. Kellerer M., Lammers R., Ermel B.et al. Distinct alpha-subunit structures of human insulin receptor A and B variants determine differences in tyrosine kinase activities. Biochemistry. 31:1992;4588-4596.
27. Kiledjian M., Wang X., Liebhaber S.A. Identification of two KH domain proteins in the alpha-globin mRNP stability complex. EMBO J. 14:1995;4357-4364.
28. Ladd A.N., Charlet-B N., Cooper T.A. The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing. Mol Cell Biol. 21:2001;1285-1296.
29. Leffers H., Dejgaard K., Celis J.E. Characterisation of two major cellular poly(rC)-binding human proteins, each containing three K-homologous (KH) domains. Eur J Biochem. 230:1995;447-453.
30. Lehnart S.E., Schillinger W., Pieske B.et al. Sarcoplasmic reticulum proteins in heart failure. Ann NY Acad Sci. 853:1998;220-230.
31. Lewis H.A., Chen H., Edo C.et al. Crystal structures of Nova-1 and Nova-2 K-homology RNA-binding domains. Structure Fold Des. 7:1999;191-203.
32. Lewis H.A., Musunuru K., Jensen K.B.et al. Sequence-specific RNA binding by a Nova KH domain. implications for paraneoplastic disease and the fragile X syndrome Cell. 100:2000;323-332.
33. Liquori C.L., Ricker K., Moseley M.L.et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science. 293:2001;864-867.
34. 2+-ATPase gene. J Biol Chem. 263:1988;15,024-15,031.
35. Mahadevan M., Tsilfidis C., Sabourin L.et al. Myotonic dystrophy mutation - an unstable CTG repeat in the 3′ untranslated region of the gene. Science. 255:1992;1253-1255.
36. Mankodi A., Logigian E., Callahan L.et al. Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science. 289:2000;1769-1773.
37. Mankodi A., Takahashi M.P., Jiang H.et al. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol Cell. 10:2002;35-44.
38. n expansions associated with myotonic dystrophy. EMBO J. 19:2000;4439-4448.
39. Milner PF, Clegg JB, Weatherall DJ: 1971. Haemoglobin-H disease due to a unique haemoglobin variant with an elongated alpha-chain. Lancet i:729-732.
40. Min H., Turck C.W., Nikolic J.M.et al. A new regulatory protein, KSRP, mediates exon inclusion through an intronic splicing enhancer. Genes Dev. 11:1997;1023-1036.
41. Misquitta C.M., Iyer V.R., Werstiuk E.S.et al. The role of 3′-untranslated region (3′-UTR) mediated mRNA stability in cardiovascular pathophysiology. Mol Cell Biochem. 224:2001;53-67.
42. 2+ pump mRNA stability in cardiac and smooth muscle. role of the 3′-untranslated region Am J Physiol Cell Physiol. 283:2002;C560-C568.
43. 2+ pump expression in cardiac and smooth muscle. Biochem J. 338:1999;167-173.
44. Morales J., Russell J.E., Liebhaber S.A. Destabilization of human alpha-globin mRNA by translation anti-termination is controlled during erythroid differentiation and is paralleled by phased shortening of the poly(A) tail. J Biol Chem. 272:1997;6607-6613.
45. Musunuru K., Darnell R.B. Paraneoplastic neurologic disease antigens. RNA-binding proteins and signaling proteins in neuronal degeneration Annu Rev Neurosci. 24:2001;239-262.
46. Ostareck D.H., Ostareck-Lederer A., Shatsky I.N.et al. Lipoxygenase mRNA silencing in erythroid differentiation. the 3′ UTR regulatory complex controls 60S ribosomal subunit joining Cell. 104:2001;281-290.
47. Ostareck D.H., Ostareck-Lederer A., Wilm M.et al. mRNA silencing in erythroid differentiation. hnRNP K and hnRNP E1 regulate 15-lipoxygenase translation from the 3′ end Cell. 89:1997;597-606.
48. Paulding W.R., Czyzyk-Krzeska M.F. Regulation of tyrosine hydroxylase mRNA stability by protein-binding, pyrimidine-rich sequence in the 3′-untranslated region. J Biol Chem. 274:1999;2532-2538.
49. Philips A.V., Timchenko L.T., Cooper T.A. Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science. 280:1998;737-741.
50. Polydorides A.D., Okano H.J., Yang Y.Y.et al. A brain-enriched polypyrimidine tract-binding protein antagonizes the ability of Nova to regulate neuron-specific alternative splicing. Proc Natl Acad Sci USA. 97:2000;6350-6355.
51. Reddy S., Smith D.B., Rich M.M.et al. Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy. Nat Genet. 13:1996;325-334.
52. n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice. Proc Natl Acad Sci USA. 94:1997;13,221-13,226.
53. Ryan K.R., Cooper T.A. Muscle-specific splicing enhancers regulate inclusion of the cardiac troponin T alternative exon in embryonic skeletal muscle. Mol Cell Biol. 16:1996;4014-4023.
54. Savkur R.S., Philips A.V., Cooper T.A. Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Genet. 29:2001;40-47.
55. Seino S., Bell G.I. Alternative splicing of human insulin receptor messenger RNA. Biochem Biophys Res Commun. 159:1989;312-316.
56. Stefanovic B., Hellerbrand C., Holcik M.et al. Posttranscriptional regulation of collagen alpha1(I) mRNA in hepatic stellate cells. Mol Cell Biol. 17:1997;5201-5209.
57. Timchenko L.T., Miller J.W., Timchenko N.A.et al. Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. Nucleic Acids Res. 24:1996;4407-4414.
58. Timchenko N.A., Cai Z.J., Welm A.L.et al. RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1. J Biol Chem. 276:2001;7820-7826.
59. 2+-ATPase isoform SERCA2a by the nonmuscle SERCA2b homologue causes mild concentric hypertrophy and impairs contraction-relaxation of the heart. Circ Res. 89:2001;838-846.
60. Walter B.L., Nguyen J.H., Ehrenfeld E.et al. Differential utilization of poly(rC) binding protein 2 in translation directed by picornavirus IRES elements. RNA. 5:1999;1570-1585.
61. Wang X., Kiledjian M., Weiss I.M.et al. Detection and characterization of a 3′ untranslated region ribonucleoprotein complex associated with human alpha-globin mRNA stability. Mol Cell Biol. 15:1995;1769-1777.
62. Wang X., Tanaka Hall T.M. Structural basis for recognition of AU-rich element RNA by the HuD protein. Nat Struct Biol. 8:2001;141-145.
63. Weiss I.M., Liebhaber S.A. Erythroid cell-specific determinants of alpha-globin mRNA stability. Mol Cell Biol. 14:1994;8123-8132.
64. Weiss I.M., Liebhaber S.A. Erythroid cell-specific mRNA stability elements in the alpha2-globin 3′ nontranslated region. Mol Cell Biol. 15:1995;2457-2465.
65. Yang Y.Y., Yin G.L., Darnell R.B. The neuronal RNA binding protein Nova-2 is implicated as the autoantigen targeted in POMA patients with dementia. Proc Natl Acad Sci USA. 95:1998;13,254-13,259.
66. Yu J., Russell J.E. Structural and functional analysis of an mRNP complex that mediates the high stability of human beta-globin mRNA. Mol Cell Biol. 21:2001;5879-5888.
67. Zhang H.L., Eom T., Oleynikov Y.et al. Neurotrophin-induced transport of a beta-actin mRNP complex increases beta-actin levels and stimulates growth cone motility. Neuron. 31:2001;261-275.
68. Zhang L., Liu W., Grabowski P.J. Coordinate repression of a trio of neuron-specific splicing events by the splicing regulator PTB. RNA. 5:1999;117-130.
69. Zhang W., Liu H., Han K.et al. Region-specific alternative splicing in the nervous system. implications for regulation by the RNA-binding protein NAPOR RNA. 8:2002;671-685.