A circulating, biologically inactive thyrotropin caused by a mutation in the beta subunit gene

Journal of Clinical Investigation

Volumn 97, Issue 5, 1996, Pages 1250-1256

  Medeiros Neto, Geraldo ^c   Herodotou, Demetrios T ^a   Rajan, Sabitha ^e   Kommareddi, Sitara ^e   De Lacerda, Luiz ^d   Sandrini, Romolo ^d   Boguszewski, Margaret C S ^d   Hollenberg, Anthony N ^a   Radovick, Sally ^b   Wondisford, Fredric E ^a  

^a BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c UNIVERSITY OF SÃO PAULO   (Brazil)

^d Endocrinology Division   (Brazil)

^e CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

central hypothyroidism; gene mutation; pituitary; thyrotropin subunit

Indexed keywords

PROTEIN SUBUNIT; THYROTROPIN;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY STUDY; FEMALE; GENE MUTATION; HUMAN; HYPOTHYROIDISM; MALE; PEDIGREE; PRIORITY JOURNAL; THYROTROPIN RELEASE;

EID: 13344295090     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI118540     Document Type: Article

References (23)

1. Weiss, J., L. Axelrod, R.W. Whitcomb, P.E. Harris, W.F. Crowley, and J.L. Jameson. 1992. Hypogonadism caused by a single amino acid substitution in the β-subunit of luteinizing hormone. N. Engl. J. Med. 326:179-183.
2. Matthews, C.H., S. Borgato, P. Beck-Peccoz, M. Adams, Y. Tone, G Garabino, S Casagrande, G Tedeschini, A. Benedetti, and V.K. Chatterjee. 1993. Primary ammenorrhea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone. Nat. Genet. 5 83-86.
3. Radovick, S., M. Nations, Y. Du, L A Berg, B.D. Weintraub, and F.E. Wondisford. 1992. A Mutation in the POU-Homeodomain of Pit-1 Responsible for Combined Pituitary Hormone Deficiency. Science (Wash DC). 257:1115-1118.
4. Pfaffle, R.W., G.E. DiMattia, J.S. Parks, M.R. Brown, J.M. Wit, M. Jansen, H. Van der Nat, J.L Vanden Brande, M.G. Rosenfeld, and H.A. Ingraham. 1992. Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia. Science (Wash. DC). 257:1118-1121.
5. Tatsumi, K., K Miyai, T. Notomi, K. Kaibe, N. Amino, Y. Mizuno, and H. Kohno. 1992 Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene. Nat. Genet. 1:56-58.
6. Ohta, K., Y. Nobukuni, H. Mitsubuchi, T. Ohta, T. Tohma, Y. Jinno, F. Endo, and I. Matsuda. 1992. Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency. Biochem. Biophys. Res. Commun 189:851-855
7. Hayashizaki, Y., Y. Hiraoka, Y. Endo, K. Miyai, and K. Matsubara. 1989. Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the β-subunit. EMBO (Eur. Mol. Biol. Organ.) J. 8.2291-2296.
8. Dacou-Voutetakis, C., D.M. Feltquate, M. Drakopoulou, I.A. Kourides, and N.C. Dracopoli. 1990. Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone β-subunit gene. Am. J. Hum Genet 46: 988-993.
9. Miyai, K., M Azukizawa, and Y. Kumahara. 1971. Familial isolated thyrotropin deficiency with cretinism. N Engl J. Med. 285:1043-1048.
10. Miyai, K., Y. Endo, Y. Iijima, O. Kabutomori, and Y. Hayashizaki. 1988. Serum free thyrotropin subunit in congenital isolated thyrotropin deficiency. Endocrinol. Jpn. 35:517-521.
11. Gross-Bellard, M , P. Oudet, and P. Chambon. 1973. Isolation of high-molecular-weight DNA from mammalian cells. Eur J. Biochem. 36:32-38.
12. Saiki, R.K., D.H. Gelfand, S. Stoffel, S.J. Scharf, R. Higuchi, G.T. Horn, K.B. Mullis, and H.A Erlich. 1988. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science (Wash. DC) 239:487-490.
13. Sanger, F., S. Nicklen, and A.R. Coulson. 1977. DNA sequencing with chain-terminating inhibitors. Proc. Natl. Acad. Sci. USA. 74:5463-5467.
14. Newton, C.R., A. Graham, L.E. Heptinstall, S.J. Powell, C Summers, N. Kalsheker, J.C. Smith, and A.F Markham 1989. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res. 17.2503-2517.
15. Wondisford, F.E., S. Radovick, J.M Moates, S.J. Usala, and B.D. Weintraub. 1988 Isolation and characterization of the human thyrotropin β-subunit gene. J. Biol. Chem. 263:12538-12542
16. Wondisford, F.E., S.J. Usala, G S DeCherney, M. Castren, S Radovick, P.W Gyves, J.P. Trempe, B.P. Kerfoot, V N Nikodem, B.J. Carter, and B.D. Weintraub. 1988. Cloning of the human thyrotropin β-subunit gene and transient expression of biologically active human thyrotropin after gene transfection. Mol. Endocrinol. 2:32-39.
17. Seldon, R.F., K.B. Howie, M.E. Rowe, H.M. Goodman, and D.D. Moore. 1986. Human growth hormone as a reporter gene in regulation studies employing transient gene expression. Mol. Cell. Biol. 6:3173-3179.
18. Kourides, I.A , B.D Weintraub, C. Ridgway, and F. Maloof. 1975. Pituitary secretion of free alpha and beta subunit of human thyrotropin in patients with thyroid disorders. J. Clin. Endocrinol. Metab. 40:872-885.
19. Weintraub, B.D., M.C. Gershengorn, I.A. Kourides, and H. Fein. 1981. Inappropriate secretion of thyroid-stimulating hormone. Ann. Intern. Med. 95: 339-351.
20. Kopp, P., J. Van Sande, J. Parma, L. Duprez, H. Gerber, E. Joss, J.L. Jameson, J.E. Dumont, and G. Vassart. 1995 Congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene. N. Engl. J. Med. 332: 150-154.
21. Sunthornthepvarakul, T., M.E. Gottschalk, Y. Hayashi, and S. Refetoff. 1995. Resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. N. Engl. J. Med. 332:155-160.
22. Pierce, J.G., and T.F. Parsons. 1981. Glycoprotein hormones: structure and function. Annu. Rev. Biochem. 50:465-495.
23. Lapthorn, A.J., D.C. Harris, A. Littlejohn, J.W. Lustbader, R.E. Canfield, K.J. Machin, F.J. Morgan, and N.W. Isaacs. 1994. Crystal structure of human chorionic gonadotropin. Nature (Lond.). 369:455-461.