Rarity of oncogenic mutations in the thyrotropin receptor of autonomously functioning thyroid nodules in japan

Journal of Clinical Endocrinology and Metabolism

Volumn 80, Issue 9, 1995, Pages 2607-2611

  Takeshita, Akira ^a   Nagayama, Yuji ^a   Yokoyama, Naokata ^a   Ishikawa, Naofumi ^b   Ito, Kunihiko ^b   Yamashita, Tomoyuki ^c   Obara, Takao ^c   Murakami, Yasuhiro ^d   Kuma, Kanji ^d   Takamatsu, Junta ^e   Ohsawa, Nakaaki ^e   Nagataki, Shigenobu ^a  

^a NAGASAKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b ITO HOSPITAL   (Japan)

^c TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^d KUMA HOSPITAL   (Japan)

^e OSAKA MEDICAL COLLEGE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

THYROTROPIN; THYROTROPIN RECEPTOR;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; GENE DELETION; HORMONE RECEPTOR INTERACTION; HUMAN; PRIORITY JOURNAL; RECEPTOR AFFINITY; SINGLE STRAND CONFORMATION POLYMORPHISM; THYROID NODULE;

BASE SEQUENCE; HUMAN; INCIDENCE; JAPAN; MOLECULAR SEQUENCE DATA; MUTATION; OLIGONUCLEOTIDE PROBES; ONCOGENES; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, THYROTROPIN; SUPPORT, NON-U.S. GOV'T; THYROID NODULE;

EID: 0029093051     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jcem.80.9.7673402     Document Type: Article

References (28)

1. Dumont JE, Lamy F, Roger P, Maenhaut C. 1992 Physiological and pathological regulation of thyroid cell proliferation and differentiation by thyrotropin and other factors. Physiol Rev. 72: 667-697.
2. Van Sande J, Raspe E, Ferret J, et al. 1990 Thyrotropin activates both the cyclic AMP and the PIP2 cascades in CHO cells expressing the human cDNA for TSH receptor. Mol Cell Endocrinol. 74: R1-R6.
3. Ledent C, Dumont JE, Vassart G, Parmentier M. 1992 Thyroid expression of an A2 adenosine receptor transgene induces thyroid hyperplasia and hyperthyroidism. EMBO J. 11: 537-542.
4. Hay ID, Morris JC. 1991 Autonomously functioning thyroid nodules. In: Braverman LE, Utiger RD, eds. The Thyroid. A fundamental and clinical text. 6th ed. Philadelphia: Lippincott; 698-704.
5. Lyons J, Landis CA, Harsh G, et al. 1990 Two G protein oncogenes in human endocrine tumors. Science. 249: 655-659.
6. O'Sullivan C, Barton CM, Staddon SL, Brown CL, Lemoine NR. 1991 Activating point mutations of gsp oncogene in human thyroid adenomas. Mol Carcinogen. 4: 345-349.
7. Parma J, Duprez L, Van Sande J, et al. 1993 Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. Nature. 365: 649-651.
8. Paschke R, Tonacchera M, Van Sande J, Parma J, Vassart G. 1994 Identification and functional characterization of two new somatic mutations causing constitutive activation of the thyrotropin receptor in hyperfunctioning autonomous adenomas of the thyroid. J Clin Endocrinol Metab. 79: 1785-1789.
9. Procellini A, Ciullo I, Laviola L, Amabile G, Fenzi G, Awedimento VE. 1994 Novel mutations of thyrotropin receptor gene in thyroid hyperfunctioning adenomas. Rapid identification by fine needle aspiration biopsy. J Clin Endocrinol Metab. 79: 657-661.
10. Duprez L, Parma J, Van Sande J, et al. 1994 Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism. Nature Genetics. 7: 396-401.
11. Kopp P, Van Sande J, Parma J, et al. 1995 Congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene. New Engl J Med. 332: 150-154.
12. Saiki RK, Gelfand DH, Stoffel S, et al. 1989 Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science. 239: 487-491.
13. Orita M, Suzuki Y, Sekiya T, Hayashi K. 1989 Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics. 5: 874-879.
14. Nagayama Y, Kaufman KD, Seto P, Rapoport B. 1989 Molecular cloning, sequence, and functional expression of cDNA for the human thyrotropin receptor. Biochem Biophys Res Commun. 165: 1184-1190.
15. Chazenbalk GD, Nagayama Y, Kaufman KD, Rapoport B. 1990 The functional expression of recombinant human thyrotropin receptors in non-thyroidal eukaryotic cells provides evidence that homologous desensitization to thyrotropin stimulation requires a cell-specific factor. Endocrinology. 127: 1240-1244.
16. Chazenbalk GD, Nagayama Y, Russo D, Wadsworth HL, Rapoport B. 1990 Functional analysis of the cytoplasmic domains of the human thyrotropin receptor by site-directed mutagenesis. J Biol Chem. 265: 20970-20975.
17. Kosugi S, Shenker A, Mori T. 1994 Constitutive activation of cyclic AMP but not phosphatidylinositol signaling caused by four mutations in the 6th transmembrane helix of the human thyrotropin receptor. FEBS Letters. 356: 291-294.
18. Kjelsberg MA, Cotecchia S, Ostrowsli J, Caron MG, Lefkowitz RJ. 1992 Constitutive activation of the α1β-adrenergic receptor by all amino acid substitutions at a single site. Evidence for a region which constrains receptor activation. J Bio Chem. 267: 1430-1433.
19. Ren Q, Kurose H, Lefkowitz RJ, Cotecchia S. 1993 Constitutively active mutants of the a2-adrenergic receptor. J Biol Chem. 268: 16483-16487.
20. Samama P, Cotecchia S, Costa T, Lefkowitz RJ. 1993 A mutation-induced activated state of the β2-adrenergic receptor: extending ternary complex model. J Biol Chem. 268: 4625-4636.
21. Allen LF, Lefkowitz RJ, Caron MG, Cotecchia S. 1991 G-protein-coupled receptor genes as protooncogenes: constitutively activating mutation of the α1β-adrenergic receptor enhances mitogenesis and tumorigenicity. Proc Natl Acad Sci USA. 88: 11354-11358.
22. Shenker A, Laue L, Kosugi S, Merendino Jr JJ, Minegishi T, Cutler Jr GB. 1993 A constitutively activating mutation of luteinizing hormone receptor in familial male precocious puberty. Nature. 365: 652-654.
23. Yano K, Hidaka A, Saji M, et al. 1994 A sporadic case of male-limited precocious puberty has the same constitutively activating point mutation in luteinizing hormone/choriogonadotropin receptor gene as familial cases. J Clin Endocrinol Metab. 79: 1818-1823.
24. Goretzki PE, Lyons J, Stacy-Phipps S, et al. 1992 Mutational activation of RAS and GSP oncogenes in differentiated thyroid cancer and their biological implications. World J Surg. 16: 576-582.
25. Shi YS, Zou M, Schmit H, et al. 1991 High rates of ras codon 61 mutation in thyroid tumors in an iodide-deficient area. Cancer Res. 51: 2690-2693.
26. Grieco M, Santoro M, Berlingieri MT, et al. 1990 PTC is a novel rearrangement form of the ret proto-oncogene and is frequently detected in vivo in human thyroid papillary carcinomas. Cell. 60: 557-563.
27. Namba H, Yamashita S, Pei HC, et al. 1991 Lack of PTC gene (ret proto-oncogene rearrangement) in human thyroid tumor. Endocrinol Jpn. 38: 627-632.
28. Wajjwalku W, Nakamura S, Hasegawa Y, et al. 1992 Low frequency of rearrangements of the ret and trk proto-oncogenes in Japanese thyroid papillary carcinomas. Jpn J Cancer Res. 83: 671-675.