Missense Mutation (C1263R) in the Thyroglobulin Gene Causes Congenital Goiter with Mild Hypothyroidism by Impaired Intracellular Transport

Endocrine Journal

Volumn 45, Issue 3, 1998, Pages 315-327

  Hishinuma, Akira ^a   Kasai, Kikuo ^a   Masawa, Nobuhide ^a   Kanno, Yumiko ^b   Arimura, Miwako ^a   Shimoda, Shin Ichi ^a   Ieiri, Tamio ^a  

^a DOKKYO MEDICAL UNIVERSITY   (Japan)

^b Sumitomo Metal Bio Science Inc   (Japan)

Author keywords

Autosomal recessive inheritance; Endoglycosidase h; Endoplasmic reticulum storage disease; Quality control; Rnase cleavage assay

Indexed keywords

THYROGLOBULIN; THYROID HORMONE;

ADULT; AMINO ACID SEQUENCE; ARTICLE; BIOSYNTHESIS; CASE REPORT; FEMALE; GENETICS; GOITER; HUMAN; HYPOTHYROIDISM; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PHYSIOLOGY; RECESSIVE GENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TRANSPORT AT THE CELLULAR LEVEL;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; BIOLOGICAL TRANSPORT; FEMALE; GENES, RECESSIVE; GOITER; HUMANS; HYPOTHYROIDISM; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; THYROGLOBULIN; THYROID HORMONES;

EID: 0032082753     PISSN: 09188959     EISSN: None     Source Type: Journal    
DOI: 10.1507/endocrj.45.315     Document Type: Article

References (31)

1. Dumont JE, Vassart G, Refetoff S (1989) Thyroid disorders. In: Scriver CR, Beaudet AL, Sly WS, Walle D (eds) The Metabolic Basis of Inherited Diseases. 6th ed, McGraw Hill, New York, 1843-1879.
2. Christophe D, Vassart G (1990) The thyroglobulin gene. Evolutionary and regulatory issues. Trends Endocrinol Metab 1: 351-356.
3. Dunn JT (1996) Thyroglobulin: Chemistry and biosynthesis. In: Braverman LE, Utiger RD (eds) Werner and Ingbar's The Thyroid. 7th ed, Lippincott-Raven, Philadelphia, 85-95.
4. Baas F, van Ommen G-J, Bikker H, Arnberg AC, de Vijlder JJM (1986) The human thyroglobulin gene is over 300kb long and contains introns of up to 64 kb. Nucleic Acid Res 14: 5171-5186.
5. Malthiery Y, Lissitzky S (1987) Primary structure of human thyroglobulin deduced from the sequence of its 8448-base complementary DNA. Eur J Biochem 165: 491-498.
6. Ieiri T, Cochaux P, Targovnik HM, Suzuki M, Shimoda S-I, Perret J, Vassart G (1991) A 3′ splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism. J Clin Invest 88: 1901-1905.
7. Targovnik HM, Medeiros-Neto G, Varela V, Cochaux P, Wajchenberg BL, Vassart G (1993) A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger. J Clin Endocrinol Metab 77: 210-215.
8. Ricketts MH, Simons MJ, Parma J, Mercken L, Dong Q, Vassart G (1987) A nonsense mutation causes hereditary goiter in the Afrikander cattle and unmasks alternative splicing of thyroglobulin transcripts. Proc Natl Acad Sci USA 84: 3181-3184.
9. Veenboer GJM, de Vijlder JJM (1993) Molecular basis of the thyroglobulin synthesis defect in Dutch goats. Endocrinology 132: 377-381.
10. Kim PS, Kim K-R, Arvan P (1993) Disulfide-linked aggregation of thyroglobulin normally occurs during nascent protein folding. Am J Physiol 265: C704-711.
11. Kornfeld R, Kornfeld S (1985) Assembly of asparagine-linked oligosaccharides. Ann Rev Biochem 54: 631-664.
12. Medeiros-Neto G, Kim PS, Yoo SE, Veno J, Targovnik HM, Camargo R, Hossain SA, Arvan P (1996) Congenital hypothyroid goiter with deficient thyroglobulin. J Clin Invest 98: 2838-2844.
13. Kim PS, Kwon O-Y, Arvan P (1996) An endoplasmic reticulum storage disease causing congenital goiter with hypothyroidism. J Cell Biol 133: 517-527.
14. Bradford MM (1976) A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem 72: 248-254.
15. Chmczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidinium thiocyanatephenol-chloroform extraction. Anal Biochem 162: 156-159.
16. Parma J, Christophe D, Pohl V, Vassart G (1987) Structural organization of the 5′ region of the thyroglobulin gene. J Mol Biol 196: 769-779.
17. Gentile F, Palumbo G, Salvatore G (1992) The origin of the electrophoretic doublet of thyroglobulin. Biochem Biophys Res Comm 186: 1185-1191.
18. Lissitzky S, Codaccioni J-L, Bismuth J, Depieds R (1967) Congenital goiter with hypothyroidism and iodo-serum albumin replacing thyroglobulin. J Clin Endocrinol 27: 185-196.
19. Kim PS, Arvan P (1991) Folding and assembly of newly synthesized thyroglobulin occurs in a preGolgi compartment. J Biol Chem 266: 12412-12418.
20. Bonifacino JS, Lippincott-Schwartz J (1991) Degradation of proteins within the endoplasmic reticulum. Curr Opin Cell Biol 3: 592-600.
21. Sifers RN, Finegold MJ, Woo SLC (1992) Molecular biology and genetics of alphal-antitrypsin deficiency. Semin Liver Dis 12: 301-310.
22. Schmale H, Bahnsen U, Richter D (1993) Structure and expression of the vasopressin precursor gene in central diabetes insipidus. Ann N Y Acad Sci 689: 74-82.
23. Bonadio J, Byers PH (1985) Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II. Nature 316: 363-366.
24. Lehrman MA, Schneider WJ, Brown MS, Davis CG, Elhammer A, Russell DW, Goldstein JL (1987) The Lebanese allele at the low density lipoprotein receptor locus. J Biol Chem 262: 401-410.
25. Lau MMH, Neufeld EF (1989) A frameshift mutation in a patient with Tay-Sachs disease causes premature termination and defective intracellular transport of the α-subunit of β-Hexoaminidase. J Biol Chem 264: 21376-21380.
26. Cheng SH, Gregory RJ, Marshall J, Paul S, Souza DW, White GA, O'Riordan CR, Smith AE (1990) Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell 63: 827-834.
27. Accili D, Kadowaki T, Kadowaki H, Mosthaf L, Ullrich A, Taylor SI (1992) Immunoglobulin heavy chain-binding protein binds to misfolded mutant insulin receptors with mutations in the extracellular domain. J Biol Chem 267: 586-590.
28. Miura O, Sugahara Y, Aoki N (1993) Intracellular transport-deficient mutants causing hereditary deficiencies of factors involved in coagulation and fibrinolysis. Throm Haemostas 69: 296-297.
29. Hammond C, Helenius A (1995) Quality control in the secretory pathway. Curr Opin Cell Biol 7: 523-529.
30. Ohyama Y, Hosoya T, Kameya T, Suzuki N, Nakamura S, Kazahari K, Shibayama K, Yokota Y, Matsuura N (1994) Congenital euthyroid goitre with impaired thyroglobulin transport. Clin Endocrinol 41: 129-135.
31. Yoshida S, Takamatsu J, Kuma K, Murakami Y, Sakane S, Katayama S, Tarutani O, Ohsawa N (1996) A variant of adenomatous goiter with characteristic histology and possible hereditary thyroglobulin abnormality. J Clin Endocrinol Metab 81: 1961-1966.