Thyroglobulin exon 10 gene point mutation in a patient with endemic goiter

Thyroid

Volumn 6, Issue 5, 1996, Pages 423-427

  Pérez Centeno, Cecilia ^a   González Sarmiento, Rogelio ^a   Mories, María T ^b   Corrales, Juan J ^b   Miralles García, José M ^b  

^a UNIVERSITY OF SALAMANCA   (Spain)

^b HOSPITAL UNIVERSITARIO DE SALAMANCA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

THYROGLOBULIN;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; ENDEMIC GOITER; EXON; FEMALE; GENETIC ORGANIZATION; HUMAN; MALE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SOUTHERN BLOTTING;

EID: 0029993867     PISSN: 10507256     EISSN: None     Source Type: Journal    
DOI: 10.1089/thy.1996.6.423     Document Type: Article

References (23)

1. Wartofsky L 1994 Diseases of the thyroid. In: Isselbacher KJ, Brawnwald E, Wilson JD, Martin JB, Fauci AS, Kasper DL (eds) Harrison's Principles of Internal Medicine, 13th ed. McGraw-Hill, New York, pp 1938-1940.
2. Eastman CJ, Phillips DIW 1988 Endemic goitre and iodine deficiency disorders: Aetiology, epidemiology and treatment, Baillière's Clin Endocrinol Metab 2:719-735.
3. Targovnik H, Propato F, Varela V, Wajchenberg B, Knobel M, D'Abronzo HF, Medeiros-Neto G 1989 Low levels of thyroglobulin messenger ribonucleic acid in congenital goitrous hypothyroidism with defective thyroglobulin synthesis. Clin Endocrinol Metab 69:1137-1147.
4. Cabrer B, Brocas H, Pérez-Castillo A, Pohl V, Navas JJ, Targovnik H, Centenera JA, Vassart G 1986 Normal level of thyroglobulin mRNA in a human congenital goiter with thyroglobulin deficiency. J Clin Endocrinol Metab 63:931-940.
5. Medeiros-Neto G, Targovnik H, Knobel M, Propato F, Varela V, Alkmin M, Barbosa S, Wajchenberg BL 1989 Qualitative and quantitative defects of thyroglobulin resulting in congenital goiter. Absence of gross gene deletion of coding sequences in the TG gene structure. J Endocrinol Invest 12:805-813.
6. Mories T, Miralles JM, Reglere A, Felipe S, Corrales JJ, Garcia LC 1991 A study of thyroglobulin and peroxidase activity in the thyroid tissue of patients with non-endemic nontoxic nodular goitre. Clin Sci 80:301-307.
7. Corral J, Martín C, Pérez R, Sánchez I, Mories MT, San Millan JL, Miralles JM, González-Sarmiento R 1993 Thyroglobulin gene point mutation associated with non-endemic simple goitre. Lancet 341:462-464.
8. González-Villaron L, Domínguez Moronta F, De Castro del Pozo S 1975 El bocio endémico en la provincia de Salamanca. Distribución y grado de incidencia. Rev Clin Española 136:227-233.
9. Feinberg AP, Vogelstein B 1983 A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 132:6-13.
10. Baas F, Van Ommen G-JB, Bikker H, Arnberg AC, De Viljder JJM 1986 The human thyroglobulin gene is over 300 Kb long and contains introns up to 64 Kb. Nucl Acids Res 14:5171-5185.
11. Sanger F, Nicklen S, Coulson AR 1977 DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 74:5463-5467.
12. Parma J, Christophe D, Pohl V, Vassart G 1987 Structural organization of the 5′ region of the thyroglobulin gene. Evidence for intron loss and "exonization" during evolution. J Mol Biol 196:769-779.
13. Targovnik HM, Pohl V, Christophe D, Cabrer B, Brocas H, Vassart G 1984 Structural organization of the 5′ region of the human thyroglobulin gene. Eur J Biochem 141:271-277.
14. 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.
15. Malthiery Y, Marriq C, Berge-Lefranc J-L, Franc J-L, Henry M, Lejeune PJ, Ruf J, Lissitzky S 1989 Thyroglobulin structure and function: Recent advances. Biochimie 71:195-209.
16. Leiri 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.
17. Ricketts MH, Simons MJ, Parma J, Mercken L, Dong O, Vassart G 1987 A nonsense mutation causes hereditary goitre in the Affrikander cattle and unmasks alternative splicing of thyroglobulin transcripts. Proc Natl Acad Sci USA 84:3181-3184.
18. Targovnik H, Propato F, Varela V, Wajchenberg B, Knobel M, D'Abronzo HF, Medeiros-Neto G 1989 Low levels of thyroglobulin messenger ribonucleic acid in congenital goitrous hypothyroidism with defective thyroglobulin synthesis. J Clin Endocrinol Metab 69:1137-1147.
19. 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.
20. Medeiros-Neto G, Targovnik HM, Vassart G 1993 Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism. Endocrine Rev 14:165-183.
21. Targovnik HM, Vono J, Billerbeck AEC, Cerrone GE, Varela V, Mendive F, Wajchenberg BL, Medeiros-Neto G 1995 A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis. J Clin Endocrinol Metab 80:3356-3360.
22. Ohmiya Y, Hayashi H, Kondo T, Kondo Y 1990 Location of dehydroalanine residues in the aminoacid sequence of bovine thyroglobulin. Identification of "donor" thyrosine sites for hormonogenesis in thyroglobulin. J Biol Chem 265:9066-9071.
23. Lamas L, Anderson P, Fox J, Dunn J 1989 Consensus sequence for early iodination and hormonogenesis in human thyroglobulin. J Biol Chem 264:13541-13545.