Table of Contents Author Guidelines Submit a Manuscript
BioMed Research International
Volume 2014 (2014), Article ID 370538, 11 pages
http://dx.doi.org/10.1155/2014/370538
Research Article

Functional Analyses of c.2268dup in Thyroid Peroxidase Gene Associated with Goitrous Congenital Hypothyroidism

1Department of Molecular Medicine, Faculty of Medicine, University of Malaya, 50603 Lembah Pantai, Kuala Lumpur, Malaysia
2Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia
3Department of Surgery, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia

Received 3 September 2013; Revised 23 January 2014; Accepted 6 February 2014; Published 17 March 2014

Academic Editor: Markus Schuelke

Copyright © 2014 Ching Chin Lee et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. J.-E. Toublanc, “Comparison of epidemiological data on congenital hypothyroidism in Europe with those of other parts in the world,” Hormone Research, vol. 38, no. 5-6, pp. 230–235, 1992. View at Google Scholar · View at Scopus
  2. K. B. Harris and K. A. Pass, “Increase in congenital hypothyroidism in New York State and in the United States,” Molecular Genetics and Metabolism, vol. 91, no. 3, pp. 268–277, 2007. View at Google Scholar
  3. L. L. Wu, B. S. Sazali, N. Adeeb, and B. A. K. Khalid, “Congenital hypothyroid screening using cord blood TSH,” Singapore Medical Journal, vol. 40, no. 1, pp. 23–26, 1999. View at Google Scholar · View at Scopus
  4. M. Castanet, M. Polak, C. Bonaïti-Pellié, S. Lyonnet, P. Czernichow, and J. Léger, “Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factors,” Journal of Clinical Endocrinology and Metabolism, vol. 86, no. 5, pp. 2009–2014, 2001. View at Publisher · View at Google Scholar · View at Scopus
  5. J. J. M. de Vijlder, C. Ris-Stalpers, and T. Vulsma, “Inborn errors of thyroid hormone biosynthesis,” Experimental and Clinical Endocrinology and Diabetes, vol. 105, supplement 4, pp. 32–37, 1997. View at Google Scholar · View at Scopus
  6. P. Kopp, “Perspective: genetic defects in the etiology of congenital hypothyroidism,” Endocrinology, vol. 143, no. 6, pp. 2019–2024, 2002. View at Publisher · View at Google Scholar · View at Scopus
  7. J. Deladoëy, N. Pfarr, J.-M. Vuissoz et al., “Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies,” Journal of Clinical Endocrinology and Metabolism, vol. 93, no. 2, pp. 627–633, 2008. View at Publisher · View at Google Scholar · View at Scopus
  8. C. C. Lee, F. Harun, M. Y. Jalaludin, C. H. Heh, R. Othman, and S. Mat Junit, “A novel, homozygous c. 1502T>G (p.Val501Gly) mutation in the thyroid peroxidase gene in Malaysian sisters with congenital hypothyroidism and multinodular goiter,” International Journal of Endocrinology, vol. 2013, Article ID 987186, 7 pages, 2013. View at Publisher · View at Google Scholar
  9. V. Varela, C. M. Rivolta, S. A. Esperante, L. Gruneiro-Papendieck, A. Chiesa, and H. M. Targovnik, “Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A>C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect,” Clinical Chemistry, vol. 52, no. 2, pp. 182–191, 2006. View at Publisher · View at Google Scholar · View at Scopus
  10. J. Pohlenz and S. Refetoff, “Mutations in the sodium/iodide symporter (NIS) gene as a cause for iodide transport defects and congenital hypothyroidism,” Biochimie, vol. 81, no. 5, pp. 469–476, 1999. View at Publisher · View at Google Scholar · View at Scopus
  11. T. Ieiri, P. Cochaux, H. M. Targovnik et al., “A 3′ splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism,” Journal of Clinical Investigation, vol. 88, no. 6, pp. 1901–1905, 1991. View at Google Scholar · View at Scopus
  12. M. J. Abramowicz, H. M. Targovnik, V. Varela et al., “Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter,” Journal of Clinical Investigation, vol. 90, no. 4, pp. 1200–1204, 1992. View at Google Scholar · View at Scopus
  13. G. Medeiros-Neto, H. M. Targovnik, and G. Vassart, “Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism,” Endocrine Reviews, vol. 14, no. 2, pp. 165–183, 1993. View at Publisher · View at Google Scholar · View at Scopus
  14. M. Avbelj, H. Tahirovic, M. Debeljak et al., “High prevelance if thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis,” European Journal of Endocrinology, vol. 156, no. 5, pp. 511–519, 2007. View at Publisher · View at Google Scholar · View at Scopus
  15. C. Ris-Stalpers and H. Bikker, “Genetics and phenomics of hypothyroidism and goiter due to TPO mutations,” Molecular and Cellular Endocrinology, vol. 322, no. 1-2, pp. 38–43, 2010. View at Publisher · View at Google Scholar · View at Scopus
  16. D.-M. Niu, B. Hwang, Y.-K. Chu, C.-J. Liao, P.-L. Wang, and C.-Y. Lin, “High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect,” Journal of Clinical Endocrinology and Metabolism, vol. 87, no. 9, pp. 4208–4212, 2002. View at Publisher · View at Google Scholar · View at Scopus
  17. J.-Y. Wu, S.-G. Shu, C.-F. Yang, C.-C. Lee, and F.-J. Tsai, “Mutation analysis of thyroid peroxidase gene in Chinese patients with total iodide organification defect: identification of five novel mutations,” Journal of Endocrinology, vol. 172, no. 3, pp. 627–635, 2002. View at Publisher · View at Google Scholar · View at Scopus
  18. H. Li, Y. Liu, W. Wu, and S. Li, “Mutation analysis of thyroid peroxidase gene in a Chinese family with congenital hypothyroidism,” Chinese Journal of Birth Health & Heredity, no. 5, pp. 36–37, 2011. View at Google Scholar
  19. Y. Endo, S. Onogi, K. Umeki et al., “Regional localization of the gene for thyroid peroxidase to human chromosome 2p25 and mouse chromosome 12C,” Genomics, vol. 25, no. 3, pp. 760–761, 1995. View at Publisher · View at Google Scholar · View at Scopus
  20. S. Kimura, T. Kotani, and O. W. McBride, “Human thyroid peroxidase: complete cDNA and protein sequence, chromosome mapping, and identification of two alternately spliced mRNAs,” Proceedings of the National Academy of Sciences of the United States of America, vol. 84, no. 16, pp. 5555–5559, 1987. View at Google Scholar · View at Scopus
  21. F. Libert, J. Ruel, M. Ludgate et al., “Thyroperoxidase, an auto-antigen with a mosaic structure made of nuclear and mitochondrial gene modules,” The EMBO Journal, vol. 6, no. 13, pp. 4193–4196, 1987. View at Google Scholar · View at Scopus
  22. P. Seto, H. Hiray, R. O. Magnusson et al., “Isolation of a complementary DNA clone for thyroid microsomal antigen. Homology with the gene for thyroid peroxidase,” Journal of Clinical Investigation, vol. 80, no. 4, pp. 1205–1208, 1987. View at Google Scholar · View at Scopus
  23. R. P. Magnusson, G. D. Chazenbalk, J. Gestautas et al., “Molecular cloning of the complementary deoxyribonucleic acid for human thyroid peroxidase,” Molecular Endocrinology, vol. 1, no. 11, pp. 856–861, 1987. View at Google Scholar · View at Scopus
  24. P. Niccoli, L. Fayadat, V. Panneels, J. Lanet, and J.-L. Franc, “Human thyroperoxidase in its alternatively spliced form (TPO2) is enzymatically inactive and exhibits changes in intracellular processing and trafficking,” Journal of Biological Chemistry, vol. 272, no. 47, pp. 29487–29492, 1997. View at Publisher · View at Google Scholar · View at Scopus
  25. E. Zanelli, M. Henry, B. Charvet, and Y. Malthiery, “Evidence for an alternative splicing in the thyroperoxidase messenger from patients with Graves' disease,” Biochemical and Biophysical Research Communications, vol. 170, no. 2, pp. 735–741, 1990. View at Publisher · View at Google Scholar · View at Scopus
  26. M. Ferrand, V. le Fourn, and J.-L. Franc, “Increasing diversity of human thyroperoxidase generated by alternative splicing: characterization by molecular cloning of new transcripts with single- and multispliced mRNAs,” Journal of Biological Chemistry, vol. 278, no. 6, pp. 3793–3800, 2003. View at Publisher · View at Google Scholar · View at Scopus
  27. P. Niccoli-Sire, L. Fayadat, S. Siffroi-Fernandez, Y. Malthierry, and J. L. Franc, “Alternatively spliced form of human thyroperoxidase, TPOzanelli: activity, intracellular trafficking, and role in hormonogenesis,” Biochemistry, vol. 40, no. 8, pp. 2572–2579, 2001. View at Publisher · View at Google Scholar · View at Scopus
  28. R. Kuliawat, J. Ramos-Castañeda, Y. Liu, and P. Arvan, “Intracellular trafficking of thyroid peroxidase to the cell surface,” Journal of Biological Chemistry, vol. 280, no. 30, pp. 27713–27718, 2005. View at Publisher · View at Google Scholar · View at Scopus
  29. C. M. Rivolta, S. A. Esperante, L. Gruñeiro-Papendieck et al., “Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect,” Human Mutation, vol. 22, no. 3, p. 259, 2003. View at Google Scholar · View at Scopus
  30. F.-O. Desmet, D. Hamroun, M. Lalande, G. Collod-Bëroud, M. Claustres, and C. Béroud, “Human Splicing Finder: an online bioinformatics tool to predict splicing signals,” Nucleic Acids Research, vol. 37, no. 9, article e67, 2009. View at Publisher · View at Google Scholar · View at Scopus
  31. D. O. McDonald and S. H. S. Pearce, “Thyroid peroxidase forms thionamide-sensitive homodimers: relevance for immunomodulation of thyroid autoimmunity,” Journal of Molecular Medicine, vol. 87, no. 10, pp. 971–980, 2009. View at Google Scholar · View at Scopus
  32. M. Musa, F. Harun, and S. M. Junit, “Molecular analysis of TSH receptor gene in unrelated patients with congenital hypothyroidism,” Malaysian Journal of Biochemistry and Molecular Biology, vol. 15, no. 1, pp. 8–18, 2007. View at Google Scholar
  33. I.-N. Kang, M. Musa, F. Harun, and S. M. Junit, “Characterization of mutations in the FOXE1 gene in a cohort of unrelated malaysian patients with congenital hypothyroidism and thyroid dysgenesis,” Biochemical Genetics, vol. 48, no. 1-2, pp. 141–151, 2010. View at Publisher · View at Google Scholar · View at Scopus
  34. P. A. Frischmeyer and H. C. Dietz, “Nonsense-mediated mRNA decay in health and disease,” Human Molecular Genetics, vol. 8, no. 10, pp. 1893–1900, 1999. View at Publisher · View at Google Scholar · View at Scopus
  35. L. Cartegni, S. L. Chew, and A. R. Krainer, “Listening to silence and understanding nonsense: exonic mutations that affect splicing,” Nature Reviews Genetics, vol. 3, no. 4, pp. 285–298, 2002. View at Publisher · View at Google Scholar · View at Scopus
  36. C. R. Valentine, “The association of nonsense codons with exon skipping,” Mutation Research—Reviews in Mutation Research, vol. 411, no. 2, pp. 87–117, 1998. View at Publisher · View at Google Scholar · View at Scopus
  37. M. H. Ricketts, M. J. Simons, and J. Parma, “A nonsense mutation causes hereditary goitre in the Afrikander cattle and unmasks alternative splicing of thyroglobulin transcripts,” Proceedings of the National Academy of Sciences of the United States of America, vol. 84, no. 10, pp. 3181–3184, 1987. View at Google Scholar · View at Scopus
  38. Y.-F. Chang, J. S. Imam, and M. F. Wilkinson, “The Nonsense-mediated decay RNA surveillance pathway,” Annual Review of Biochemistry, vol. 76, pp. 51–74, 2007. View at Publisher · View at Google Scholar · View at Scopus
  39. J. Weischenfeldt, J. Lykke-Andersen, and B. Porse, “Messenger RNA surveillance: neutralizing natural nonsense,” Current Biology, vol. 15, no. 14, pp. R559–R562, 2005. View at Publisher · View at Google Scholar · View at Scopus
  40. L. E. Maquat, “Nonsense-mediated mRNA decay in mammals,” Journal of Cell Science, vol. 118, part 9, pp. 1773–1776, 2005. View at Publisher · View at Google Scholar · View at Scopus
  41. S. Brogna and J. Wen, “Nonsense-mediated mRNA decay (NMD) mechanisms,” Nature Structural and Molecular Biology, vol. 16, no. 2, pp. 107–113, 2009. View at Publisher · View at Google Scholar · View at Scopus
  42. X. Sun and L. E. Maquat, “mRNA surveillance in mammalian cells: the relationship between introns and translation termination,” RNA, vol. 6, no. 1, pp. 1–8, 2000. View at Publisher · View at Google Scholar · View at Scopus
  43. J. di Cristofaro, M. Silvy, A. Lanteaume, M. Marcy, P. Carayon, and C. de Micco, “Expression of tpo mRNA in thyroid tumors: quantitiative PCR analysis and correlation with alterations of ret, Braf, ras and pax8 genes,” Endocrine-Related Cancer, vol. 13, no. 2, pp. 485–495, 2006. View at Publisher · View at Google Scholar · View at Scopus
  44. R. Finke, P. Seto, J. Ruf, P. Carayon, and B. Rapoport, “Determination at the molecular level of a B-cell epitope on thyroid peroxidase likely to be associated with autoimmune thyroid disease,” Journal of Clinical Endocrinology and Metabolism, vol. 73, no. 4, pp. 919–921, 1991. View at Google Scholar · View at Scopus