A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism

Journal of Clinical Endocrinology and Metabolism

Volumn 84, Issue 7, 1999, Pages 2537-2542

  Van De Graaf, Simone A R ^a,d   Ris Stalpers, Carrie ^a   Veenboer, Geertruda J M ^a   Cammenga, Marianne ^e   Santos, Cécilia ^b   Targovnik, Héctor M ^c   De Vijlder, Jan J M ^a   Medeiros Neto, Geraldo ^b  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

^c HOSPITAL DE CLÍNICAS JOSÉ DE SAN MARTÍN   (Argentina)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

^e NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; MESSENGER RNA; THYROGLOBULIN;

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; EXON; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GOITER; HUMAN; HYPOTHYROIDISM; MALE; PHENOTYPE; PRIORITY JOURNAL; STOP CODON;

ORYCTOLAGUS CUNICULUS;

EID: 0033306061     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.84.7.5862     Document Type: Article

References (35)

1. Hereditary metabolic disorders causing hypothyroidism
2. Thyroglobulin: Chemistry and biosynthesis
3. Anionic iodotyrosine residues are required for iodothyronine synthesis
4. The human thyroglobulin gene: A polymorphic marker localized distal to c-myc on chromosome 8 band q24
5. Localization of the thyroglobulin gene by in situ hybridization to human chromosomes
6. The human thyroglobulin gene is over 300 kb long and contains introns of up to 64 kb
7. The primary structure of human thyroglobulin deduced from the sequence of its 8448 base complementary DNA
8. The revised 8307 base pair coding sequence of human thyroglobulin transiently expressed in eukaryotic cells
9. Identification of a new thyroglobulin variant: The guanine-to-adenine transition resulting in substitution of arginine 2510 by glutamine
10. The screening for mutations in the thyroglobulin cDNA from six patients with congenital hypothyroidism
11. Thyroids from siblings with Pendred's syndrome contain thyroglobulin messenger ribonucleic acid variants
12. Identification of the exon structure and four alternative transcripts of the thyroglobulin-encoding gene
13. A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger
14. Identification of a minor Tg mRNA transcript in RNA from normal and goitrous thyroids
15. A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism
16. Demonstration of a heterogenous transcription pattern of thyroglobulin mRNA in human thyroid tissues
17. A nonsense mutation causes hereditary goitre in the Afrikander cattle and unmasks alternative splicing of thyroglobulin transcripts
18. Two abnormal thyroglobulin-like polypeptides are produced from Afrikander cattle congenital goiter mRNA
19. Molecular basis of the thyroglobulin synthesis defect in Dutch goats
20. Normal sized thyroglobulin mRNA in Dutch goats with a thyroglobulin synthesis defect is translated into a 35,000 molecular weight N-terminal fragment
21. The congenital goiter mutation is linked to the thyroglobulin gene in the mouse
22. A single amino acid change in the acetylcholesterase-like domain of thyroglobulin causes congenital goiter with hypothyroidism in the cog/cog mouse - A model of human endoplasmatic storage diseases
23. A 138-nucleotide-deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis
24. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase
25. Generation and characterization of monoclonal antibodies directed against noniodinated and iodinated thyroglobulin, among which are antibodies against hormonogenic sites
26. Serum thyroglobulin (Tg) stimulation with bovine TSH: An useful test for diagnosis of congenital goitrous hypothyroidism due to defective Tg synthesis
27. Molecular basis of base substitution hotspots in Escherichia coli
28. The molecular basis of hemophilia A in man
29. The skipping of constitutive exons in vivo induced by nonsense mutations
30. Glycosylation in human thyroglobulin: Location of the N-linked oligosaccharide units and comparison with bovine thyroglobulin
31. Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism
32. Consensus sequences for early iodination and hormonogenesis in human thyroglobulin
33. Hereditary congenital goiter with thyroglobulin deficiency in a breed of goats
34. The effect of oral administration of iodine to patients with goiter and hypothyroidism due to defective synthesis of thyroglobulin