Splicing variants impact in thyroid normal physiology and pathological conditions;Variantes de splicing e seu impacto em condições fisiológicas e patológicas da tireoide

Arquivos Brasileiros de Endocrinologia e Metabologia

Volumn 53, Issue 6, 2009, Pages 709-715

  de Miranda, Elizabete Rosária ^a,b   de Marco, Luiz ^a   Soares, Maria Marta Sarquis ^a,c  

^a FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

^b Hospital Luxemburgo   (Brazil)

^c Instituto Felício Rocho de Pesquisa e Educação Continuada IFERPEC   (Brazil)

Author keywords

Splicing; TGFbeta; Thyroid gland; Thyroid hormone receptor; TPO; TSH

Indexed keywords

EID: 70449384985     PISSN: 00042730     EISSN: 16779487     Source Type: Journal    
DOI: 10.1590/s0004-27302009000600003     Document Type: Review

References (51)

1. Black DL. Protein diversity from alternative splicing: a challenge for bioinformatics and post-genome biology. Cell. 2000;103(3):367-70.
2. Bracco L, Kearsey J. The relevance of alternative RNA splicing to pharmacogenomics. Trends Biotechnol. 2003;21(8):346-53.
3. Faustino NA, Cooper TA. Pre-mRNA splicing and human disease. Genes Dev. 2003;17(4):419-37.
4. Kan Z, Rouchka EC, Gish WR, States DJ. Gene structure prediction and alternative splicing analysis using genomically aligned ESTs. Genome Res. 2001;11(5):889-900.
5. Graveley BR. Alternative splicing: increasing diversity in the proteomic world. Trends Genet. 2001;17(2):100-7.
6. Smith CW, Nadal-Ginard B. Mutually exclusive splicing of alpha-tropomyosin exons enforced by an unusual lariat branch point location: implications for constitutive splicing. Cell. 1989;56(5):749-58.
7. Black DL. Mechanisms of alternative pre-messenger RNA splicing. Annu Rev Biochem. 2003;72:291-336.
8. Wang Z, Burge CB. Splicing regulation: from a parts list of regulatory elements to an integrated splicing code. RNA. 2008;14(5):802-13.
9. Black DL. Finding splice sites within a wilderness of RNA. RNA. 1995;1(8):763-71.
10. Hoffman BE, Grabowski PJ. U1 snRNP targets an essential splicing factor, U2AF65, to the 3' splice site by a network of interactions spanning the exon. Genes Dev. 1992;6(12B):2554-68.
11. Libri D, Stutz F, McCarthy T, Rosbash M. RNA structural patterns and splicing: molecular basis for an RNA-based enhancer. RNA. 1995;1(4):425-36.
12. Dauksaite V, Akusjärvi G. The second RNA-binding domain of the human splicing factor ASF/SF2 is the critical domain controlling adenovirus E1A alternative 5'-splice site selection. Biochem J. 2004;381(Pt2):343-50.
13. Cáceres JF, Kornblihtt AR. Alternative splicing: multiple control mechanisms and involvement in human disease. Trends Genet. 2002;18(4):186-93.
14. Sarquis MS, Agrawal S, Shen L, Pilarski R, Zhou XP, Eng C. Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. Am J Hum Genet. 2006;79(1):23-30.
15. Baker BS. Sex in flies: the splice of life. Nature. 1989;340(6234): 521-4.
16. Meng X, Webb P, Yang YF, Shuen M, Yousef AF, Baxter JD, et al. E1A and a nuclear receptor corepressor splice variant (N-CoRI) are thyroid hormone receptor coactivators that bind in the corepressor mode. Proc Natl Acad Sci U S A. 2005;102(18):6267-72.
17. Iskaros J, Pickard M, Evans I, Sinha A, Hardiman P, Ekins R. Thyroid hormone receptor gene expression in first trimester human fetal brain. J Clin Endocrinol Metab. 2000;85(7):2620-3.
18. Jonas BA, Varlakhanova N, Hayakawa F, Goodson M, Privalsky ML. Response of SMRT (silencing mediator of retinoic acid and thyroid hormone receptor) and N-CoR (nuclear receptor corepressor) corepressors to mitogen-activated protein kinase kinase kinase cascades is determined by alternative mRNA splicing. Mol Endocrinol. 2007;21(8):1924-39.
19. Vincent BH, Montufar-Solis D, Teng BB, Amendt BA, Schaefer J, Klein JR. Bone marrow cells produce a novel TSHbeta splice variant that is upregulated in the thyroid following systemic virus infection. Genes Immun. 2009;10(1):18-26.
20. Schaefer JS, Klein JR. A novel thyroid stimulating hormone beta-subunit isoform in human pituitary, peripheral blood leukocytes, and thyroid. Gen Comp Endocrinol. 2009;162(3):241-4.
21. Takahashi M, Cooper GM. Ret transforming gene encodes a fusion protein homologous to tyrosine kinases. Mol Cell Biol. 1987;7(4):1378-85.
22. Pachnis V, Mankoo B, Costantini F. Expression of the c-ret pro-to-oncogene during mouse embryogenesis. Development. 1993;119(4):1005-17.
23. Avantaggiato V, Dathan N, Grieco M, Fabien N, Lazzaro D, Fusco A, et al. Developmental expression of the RET protooncogene Cell Growth Differ. 1994;5(3):305-11.
24. Tahira T, Ishizaka Y, Itoh F, Sugimura T, Nagao M. Characterization of ret proto-oncogene mRNAs encoding two isoforms of the protein product in a human neuroblastoma cell line. Oncogene. 1990;5(1):97-102.
25. Pasini B, Ceccherini I, Romeo G. RET mutations in human disease. Trends Genet. 1996;12(4):138-44.
26. Edery P, Eng C, Munnich A, Lyonnet S. RET in human development and oncogenesis. Bioessays.1997;19(5):389-95.
27. Srinivas S, Wu Z, Chen CM, D'Agati V, Costantini F. Dominant effects of RET receptor misexpression and ligand-independent RET signaling on ureteric bud development. Development. 1999;126(7):1375-86.
28. Asai N, Murakami H, Iwashita T, Takahashi M. A mutation at tyrosine 1062 in MEN2A-Ret and MEN2B-Ret impairs their transforming activity and association with Shc adaptor proteins. J Biol Chem. 1996;271(30):17644-9.
29. Hayashi H, Ichihara M, Iwashita T, Murakami H, Shimono Y, Kawai K, et al. Characterization of intracellular signals via tyrosine 1062 in RET activated by glial cell line-derived neurotrophic factor. Oncogene. 2000;19(39):4469-75.
30. Hayashi Y, Iwashita T, Murakamai H, Kato Y, Kawai K, Kurowa K, et al. Activation of BMK1 via tyrosine 1062 in RET by GDNF and MEN2A mutation. Biochem Biophys Res Commun. 2001;281(3):682-9.
31. Kurokawa K, Kawai K, Hashimoto M, Ito Y, Takahashi M. Cell signalling and gene expression mediated by RET tyrosine kinase. J Int Med. 2003;253(6):627-33.
32. Borrello MG, Alberti L, Arighi E, Bongarzone I, Battistini C, Bardelli A, et al. The full oncogenic activity of Ret/ptc2 depends on tyrosine 539, a docking site for phospholipase Cgamma. Mol Cell Biol. 1996;16(5):2151-63.
33. Ishiguro Y, Iwashita T, Murakami H, Asai N, Iida K, Goto H, et al. The role of amino acids surrounding tyrosine 1062 in Ret in specific binding of the Shc phosphotyrosine-binding domain. Endocrinol. 1999;140(9):3992-8.
34. de Graaff E, Srinivas S, Kilkenny C, D'Agati V, Mankoo BS, Constantini F, et al. Differential activities of the RET tyrosine kinase receptor isoforms during mammalian embryogenesis. Genes Dev. 2001;15(18):2433-44.
35. Tsui-Pierchala BA, Ahrens RC, Crowder RJ, Milbrandt J, Johnson EM. The long and short isoforms of Ret function as independent signalling complexes. J Biol Chem. 2002;277(37):34618-25.
36. Lorenzo MJ, Eng C, Mulligan LM, Stonehouse TJ, Healey CS, Ponder BA, et al. Multiple mRNA isoforms of the human RET proto-oncogene generated by alternate splicing. Oncogene.1995;10(7):1377-83.
37. Rossel M, Pasini A, Chappuis S, Geneste O, Fournier L, Schuffenecker I, et al. Distinct biological properties of two RET isoforms activated by MEN 2A and MEN 2B mutations. Oncogene. 1997;14(3):265-75.
38. Iwashita T, Kato M, Murakami H, Asai N, Ishiguro Y, Ito S, et al. Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinoma. Oncogene. 1999;18(26):3919-22.
39. Reis EM, Ojopi EP, Alberto FL, Rahal P, Tsukumo F, Mancini UM, et al. Large-scale transcriptome analyses reveal new genetic marker candidates of head, neck, and thyroid cancer. Cancer Res. 2005;65(5):1693-9.
40. Gimm O. Thyroid cancer. Cancer Lett. 2001;163(2):143-56.
41. Kimura ET, Nikiforova MN, Zhu Z, Knauf JA, Nikiforov YE, Fagin JA. High prevalence of BRAF mutations in thyroid cancer:genetic evidence for constitutive activation of the RET/PTCRAS-BRAF signaling pathway in papillary thyroid carcinoma. Cancer Res. 2003;63(7):1454-7.
42. Venables JP. Aberrant and alternative splicing in cancer. Cancer Res. 2004;64(21):7647-54.
43. Guimarães GS, Latini FRM, Camacho CP, Maciel RMB, Dias-Neto E, Cerutti JM. Identification of candidates for tumor-specific alternative splicing in the thyroid. Genes Chromosomes Cancer. 2006;45(6):540-53.
44. Elisei R, Vassart G, Ludgate M. Demonstration of the existence of the alternatively spliced form of thyroid peroxidase in normal thyroid. J Clin Endocrinol Metab. 1991;72(3):700-2.
45. Zanelli E, Henry M, Charvet B, Malthièry Y. Evidence for an alternate splicing in the thyroperoxidase messenger from patients with Graves' disease. Biochem Biophys Res Commun. 1990;170(2):735-41.
46. Ferrand M, Le Fourn V, Franc JL. Increasing diversity of human thyroperoxidase generated by alternative splicing characterized by molecular cloning of new transcripts with singleand multispliced mRNAs. J Biol Chem. 2003;278(6):3793-800.
47. Le Fourn V, Ferrand M, Franc JL. Differential expression of thyroperoxidase mRNA splice variants in human thyroid tumors. Biochim Biophys Acta. 2004;1689(2):134-41.
48. Kimura ET, Kopp P, Zbaeren J, Asmis LM, Ruchti C, Maciel RM, et al. Expression of transforming growth factor beta1, beta2, and beta3 in multinodular goiters and differentiated thyroid carcinomas: a comparative study. Thyroid. 1999;9(2):119-25.
49. Matsuo SE, Leoni SG, Colquhoun A, Kimura ET. Transforming growth factor-beta1 and activin A generate antiproliferative signaling in thyroid cancer cells. J Endocrinol. 2006;190(1):141-50.
50. Kimura ET, Matsuo SE, Ricarte-Filho JC. TGFbeta, activin and SMAD signalling in thyroid cancer. Arq Bras Endocrinol Metabol. 2007;51(5):683-9.
51. Lazzereschi D, Nardi F, Turco A, Ottini L, D'Amico C, Mariani-Costantini R, et al. A complex pattern of mutations and abnormal splicing of Smad4 is present in thyroid tumours. Oncogene. 2005;24(34):5344-54.