Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia

Nature Genetics

Volumn 19, Issue 4, 1998, Pages 399-401

  Clifton Bligh, Roderick J ^a   Wentworth, John M ^a   Heinz, Peter ^b   Crisp, Michele S ^c   John, Rhys ^c   Lazarus, John H ^c   Ludgate, Marian ^c   Chatterjee, V Krishna ^a  

^a ADDENBROOKE S HOSPITAL   (United Kingdom)

^b Neath General Hospital   (United Kingdom)

^c UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHOANA ATRESIA; CLEFT PALATE; EMBRYO DEVELOPMENT; GENE EXPRESSION REGULATION; GENE MUTATION; HUMAN; HUMAN CELL; HYPOTHYROIDISM; ORGANOGENESIS; PRIORITY JOURNAL; THYROID DISEASE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; AMINO ACID SEQUENCE; CELL LINE; CHOANAL ATRESIA; CLEFT PALATE; DNA; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FIBROBLASTS; FORKHEAD TRANSCRIPTION FACTORS; GENES, REGULATOR; HUMANS; MALE; MOLECULAR SEQUENCE DATA; ORGAN SPECIFICITY; POINT MUTATION; PROTEIN BINDING; REPRESSOR PROTEINS; RNA, MESSENGER; SEQUENCE HOMOLOGY, AMINO ACID; TESTIS; THYROID GLAND; TRANSCRIPTION FACTORS;

EID: 0031820442     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/1294     Document Type: Article

References (29)

1. Grant, D.B. & Smith, I. Survey of neonatal screening for primary hypothyroidism in England, Wales, and Northern Ireland 1582-1984. B. M. J. 296, 1355-1358 (1988).
2. Biebermann, H., Grüters, A., Schönenberg, T. & Gudermann, T. Congenital hypothyroidism caused by mutations in the thyrotropin-receptor gene. W. Engl. J. Med. 336, 1390-1391 (1997).
3. Abramowicz, M.J., Duprez, L., Parma, J., Vassart, G. & Heinrichs C. Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. J. Clin. Invest. 99, 3018-3024 (1997).
4. Guazzi, S. et al. Thyroid nuclear factor 1 (TTF-1) contains a homeodomain and displays a novel DNA binding specificity. EMBO J. 9, 3631-3639 (1990).
5. Mizuno, K., Gonzalez, F.J. & Kimura, S. Thyroid-specific enhancer-binding protein (T/EBP): cDNA cloning, functional characterization, and structural identity with thyroid transcription factor TTF-1. Mol. Cell. Biol. 11, 4927-4933 (1991).
6. Francis-Lang, H., Price, M., Polycarpou-Schwartz, M. & Di Lauro, R. Cell-type-specific expression of the rat thyroperoxidase promoter indicates common mechanisms for thyroid-specific gene expression. Mol. Cell. Biol. 12, 576-588 (1992).
7. Zannini, M. et al. TTF-2, a new forkhead protein, shows a temporal expression in the developing thyroid which is consistent with a role in controlling the onset of differentiation. EMBO J. 16, 3185-3197 (1997).
8. Zannini, M., Francis-Lang, H., Plachov, D. & Di Lauro, R. Pax-8, a paired domain-containing protein, binds to a sequence overlapping the recognition site of a homeodomain and activates transcription from two thyroid-specific promoters. Mol. Cell. Biol. 12, 4230-4241 (1992).
9. Plachov, D. et al. Pax-8, a murine paired box gene expressed in the developing excretory system and thyroid gland. Development 110, 643-651 (1990).
10. Kaufmann, E. S Knöchel, W. Five years on the wings of forkhead. Mech. Dev. 57, 3-20 (1996).
11. Chadwick, B.P., Obermayr, F. & Frischauf, A-M. FKHL15, a new human member of the forkhead gene family located on chromosome 9q22. Genomics 41, 390-396 (1997).
12. Bamforth, J.S., Hughes, I.A., Lazarus, J.H., Weaver, C.M. & Harper, P.S. Congenital hypothyroidism, spiky hair, and cleft palate. J. Med. Genet. 26, 49-51 (1989).
13. De Felice, M. et al. A mouse model for hereditary thyroid dysgenesis and cleft palate. Nature Genet. *, * * (1998).
14. Aza-Blanc, P., Di Lauro, R. & Sanisteban, P. Identification of a cis-regulatory element and a thyroid-specific nuclear factor mediating the hormonal regulation of rat thyroid peroxidase promoter activity. Mol. Endocrinol. 7, 1297-1306 (1993).
15. Grant, D.B., Smith, I., Fuggle, P.W., Tokar, S. & Chapple, J. Congenital hypothyroidism detected by neonatal screening: relationship between biochemical severity and early clinical features. Arch. Dis. Child. 67, 87-90 (1992).
16. Stein, S.A. et al. Identification of a point mutation in the thyrotropin receptor of the hyt/hyt hypothyroid mouse. Mol Endocrinol. 8, 129-138 (1994).
17. Ahlbom, B.E. et al. Genetic and linkage analysis of familial congenital hypothyroidism: exclusion of linkage to the TSH receptor gene. Hum. Genet. 99, 186-190 (1997).
18. Mansouri, A., Chowdhury, K. & Gruss, P. Follicular cells of the thyroid gland require Pax8 gene function. Nature Genet 19, 87-90 (1998).
19. Macchia, P.E. et al. PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nature Genet. 19, 83-86 (1998).
20. Kimura, S. et al. The T/ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary. Genes Dev 10, 60-69 (1996).
21. Perna, M.G. et al. Absence of mutations in the gene encoding thyroid transcription factor-1 (TTF-1) in patients with thyroid dysgenesis. Thyroid 7, 377-381 (1997).
22. Lapi, P. et al. Mutations in the gene encoding thyroid transcription factor-1 (TTF-1) are not a frequent cause of congenital hypothyroidism (CH) with thyroid dysgenesis. Thyroid 7, 383-387 (1997).
23. Devriendt, K., Vanhole, C., Matthijs, G. & de Zegher, F. Deletion of Thyroid Transcription Factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure. N. Engl. J. Med. 338, 1317-1318 (1998).
24. Lazarus, J.H. & Hughes, I.A. Congenital abnormalities and congenital hypothyroidism. Lancet 2, 52 (1988).
25. Roberts, H.E., Moore, CA., Fernhoff, P.M., Brown, A.L. & Khoury, M.J. Population study of congenital hypothyroidism and associated birth defects, Atlanta, 1979-1992. Am. J. Med. Genet. 71, 29-32 (1997).
26. Chomczynski, P. & Sacchi, N. Single-step method of RNA isolation by guanidinium thiocyanate-phenol-chloroform extraction. Anal. Biochem. 162, 156-159 (1987).
27. Samuels, H.H., Tsai, J.S., Casanova, J. & Stanley, F. Thyroid hormone action: in vitro characterisation of solubilised nuclear receptors from rat liver and cultured GH1 cells. J. Clin. Invest. 54, 853-865 (1974).
28. Wood, W.M., Kao, M.Y., Gordon, D.F. & Ridgeway, E.C. Thyroid hormone regulates mouse thyrotropin b-subunit gene promoter in transfected primary thyrotropes. J. Biol. Chem. 264, 14840-14847 (1989).
29. Adams, M. et al. Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone: identification of thirteen novel mutations in the thyroid hormone receptor b gene. J. Clin. Invest 94, 506-515 (1994).