TTF-2 stimulates expression of 17 genes, including one novel thyroid-specific gene which might be involved in thyroid development

Molecular and Cellular Endocrinology

Volumn 221, Issue 1-2, 2004, Pages 33-46

  Hishinuma, Akira ^a   Ohmika, Narumi ^a   Namatame, Takashi ^a   Ieiri, Tamio ^a  

^a DOKKYO MEDICAL UNIVERSITY   (Japan)

Author keywords

Adenosine A1 receptor; ADORA1; Alpha synuclein; Annexin A5; ANXA5; Carboxypeptidase E; COL11A1; COL1A1; Collagen type 1 alpha 1; Collagen type XI alpha 1; CPE; FLJ23091; Hypothetical protein FLJ23091; Integrin beta 1; ITGB1; SNCA

Indexed keywords

COMPLEMENTARY DNA; LUCIFERASE; THYROID TRANSCRIPTION FACTOR 2;

ARTICLE; CANCER CELL CULTURE; CELL LINE; CONTROLLED STUDY; DNA MICROARRAY; DOWNSTREAM PROCESSING; ENZYMATIC ASSAY; GENE EXPRESSION; GENE IDENTIFICATION; GENE ISOLATION; HUMAN; HUMAN CELL; IMAGE SUBTRACTION; ORGANOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; THYROID GLAND; UPREGULATION;

AMINO ACID SEQUENCE; BASE SEQUENCE; CELL LINE; DNA-BINDING PROTEINS; FORKHEAD TRANSCRIPTION FACTORS; GENE EXPRESSION PROFILING; HUMANS; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; REPRESSOR PROTEINS; THYROID GLAND; TISSUE DISTRIBUTION; TRANS-ACTIVATION (GENETICS); UP-REGULATION;

EID: 3042656861     PISSN: 03037207     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mce.2004.04.003     Document Type: Article

References (46)

1. 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. 99:1997;3018-3024
2. Annunen S., Korkko J., Czarny M., Warman M.L., Brunner H.G., Kaariainen H., Mulliken J.B., Tranebjaerg L., Brooks D.G., Cox G.F., Cruysberg J.R., Curtis M.A., Davenport S.L., Friedrich C.A., Kaitila I., Krawczynski M.R., Latos-Bielenska A., Mukai S., Olsen B.R., Shinno N., Somer M., Vikkula M., Zlotogora J., Prockop D.J., Ala-Kokko L. Splice mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am. J. Genet. 65:1999;974-983
3. Attardi L.D., Reczek E.E., Cosmas C., Demicco E.G., McCurrach M.E., Lowe S.W., Jacks T. PERP, an apoptosis-associated target of p53, is a novel member of the PMP-22/gas3 family. Genes Dev. 15:2000;704-718
4. Castanet M., Park S.M., Smith A., Bost M., Leger J., Lyonnet S., Pelet A., Czernichow P., Chatterjee K., Polak M. A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. Hum. Mol. Genet. 11:2002;2051-2059
5. Castanet M., Polak M., Bonaiti-Pellie C., Lyonnet S., Czernichow P., Leger J. Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factors. J. Clin. Endocrinol. Metab. 86:2001;2009-2914
6. Centner T., Yano J., Kimura E., McElhinny A.S., Pelin K., Witt C.C., Bang M-L., Trombitas K., Granzier H., Gregorio C.C., Sorimachi H., Labeit S. Identification of muscle specific ring finger proteins as potential regulators of the titin kinase domain. J. Mol. Biol. 306:2001;717-726
7. Chen H., Jawahar S., Qian Y., Duong Q., Chan G., Parker A., Meyer J.M., Moore K.J., Chayen S., Gross D.J., Glaser B., Permutt M.A., Fricker L.D. Missense polymorphism in the human carboxypeptidase E gene alters enzymatic activity. Hum. Mutat. 18:2001;120-131
8. Clifton-Bligh R.J., Wentworth J.M., Heiz P., Crisp M.S., John R., Lazarus J.H., Ludgate M., Chatterjee V.K. Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. Nat. Genet. 19:1998;399-401
9. Congdon T., Nguyen L.Q., Nogueira C.R., Habiby R.L., Medeiros-Neto G., Kopp P. A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child. J. Clin. Endocrinol. Metab. 86:2001;3962-3967
10. Cool D.R., Normant E., Shen F., Chen H.-C., Pannell L., Zhang Y., Loh Y.P. Carboxypeptidase E is a regulated secretary pathway sorting receptor: genetic obliteration leads to endocrine disorders in Cpe(fat) mice. Cell. 88:1997;73-83
11. De Felice M., Ovitt C., Biffali E., Rodriguez-Mallon A., Arra C., Anastassiadis K., Macchia P.E., Mattei M.G., Mariano A., Scholer H., Macchia V., Di Lauro R. A mouse model for hereditary thyroid dysgenesis and cleft palate. Nat. Genet. 19:1988;395-398
12. Devriendt K., Vanhole C., Matthis 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. 338:1998;1317-1318
13. Fisher D.A. Second international conference on neonatal thyroid screening: progress report. J. Pediatr. 102:1983;653-654
14. Folli C., Calderone V., Ramazzina I., Zanotti G., Berni R. Ligand binding and structural analysis of a human putative cellular retinol-binding protein. J. Biol. Chem. 277:2002;41970-41977
15. Hildebrandt T., Preiherr J., Tarbe N., Klostermann S., Van Muijen G.N., Weidle U.H. Identification of THW, a putative new tumor suppressor gene. Anticancer Res. 20:2000;2801-2809
16. Hishinuma A., Ohyama Y., Kuribayashi T., Nagakubo N., Namatame T., Shibayama K., Arisaka O., Matsuura N., Ieiri T. Polymorphism of the polyalanine tract of thyroid transcription factor-2 gene in patients with thyroid dysgenesis. Eur. J. Endocrinol. 143:2001;385-389
17. Hynes R.O. Integrins: a family of cell surface receptors. Cell. 48:1987;549-554
18. Iwatani N., Mabe H., Devriendt K., Kodama M., Miike T. Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure. J. Pediatr. 137:2000;272-276
19. Kanzaki T., Olofsson A., Moren A., Wernstedt C., Hellman U., Miyazono K., Claesson-Welsh L., Heldin C.H. TGF-beta 1 binding protein: a component of the large latent complex of TGF-beta 1 with multiple repeat sequences. Cell. 61:1990;1051-1061
20. 2+ and phospholipid binding protein. J. Biol. Chem. 263:1988;8037-8043
21. Karibe A., Tobacman L.S., Strand J., Butters C., Back N., Bachinski L.L., Arai A.E., Ortiz A., Roberts R., Homsher E., Fananapazir L. Hypertrophic cardiomyopathy caused by a novel alpha-tropomyosin mutation (V95A) is associated with mild cardiac phenotype, abnormal calcium binding to troponin, abnormal myosin cycling, and poor prognosis. Circulation. 103:2001;65-71
22. Kopp P. Perspectives; genetic defects in the etiology of congenital hypothyroidism. Endocrinology. 143:2002;2019-2024
23. Kozak M. An analysis of 5′-noncoding sequences from 699 vertebrate messenger RNAs. Nucleic Acids Res. 15:1987;8125-8148
24. Kozak M. Downstream secondary structure facilitates recognition of initiator codons by eukaryotic ribosomes. Proc. Natl. Acad. Sci. U.S.A. 87:1990;8301-8305
25. Kruger R., Kuhn W., Muller T., Woitalla D., Graeber M., Kosel S., Przuntek H., Epplen J.T., Schols L., Riess O. Ala30-to-pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. Nat. Genet. 18:1998;106-108
26. Kuivaniemi H., Tromp G., Prockop D.J. Mutations in fibrillar collagens (types I, II, III, and XI) fibril-associated collagen (type IX) and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels. Hum. Mutat. 9:1997;300-315
27. Kyte J., Doolittle R.F. A simple method for displaying the hydropathic character of a protein. J. Mol. Biol. 157:1982;105-132
28. La Franchi S. Congenital hypothyroidism: etiologies, diagnosis, and management. Thyroid. 9:1999;735-740
29. Lin S.-C., Morrison-Bogorad M. Cloning and characterization of a testis-specific thymosin beta-10 cDNA: expression in post-meiotic male germ cells. J. Biol. Chem. 266:1991;23347-23353
30. Macchia P.E., Lapi P., Krude H., Pirro M.T., Missero C., Chiovato L., Souabni A., Baserga M., Tassi V., Pinchera A., Fenzi G., Grueters A., Busslinger M., DiLauro R. PAX8 mutations associated with congenital hypothyroidism caused by thyroid agenesis. Nat. Genet. 19:1998;83-86
31. Macchia P.E., Mattei M.G., Lapi P., Fenzi G., Di Lauro R. Cloning, chromosomal localization and identification of polymorphisms in the human thyroid transcription factor 2 gene (TITF2). Biochimie. 81:1999;433-440
32. Naggert J.K., Fricker L.D., Varlamov O., Nishina P.M., Rouille Y., Steiner D.F., Carroll R.J., Paigen B.J., Leiter E.H. Hyperproinsulinaemia in obese fat/fat mice associated with a carboxypeptidase E mutation which reduces enzyme activity. Nat. Genet. 10:1995;135-142
33. Polymeropoulos M.H., Lavedan C., Leroy E., Ide S.E., Dehejia A., Dutra A., Pike B., Root H., Rubenstein J., Boyer R., Stenroos E.S., Chandrasekharappa S., Athanassiadou A., Papepetropoulos T., Johnson W.G., Lazzarini A.M., Duvoisin R.C., Di Iorio G., Golbe L.I., Nussbaum R.L. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science. 276:1997;2045-2047
34. Refetoff S., Sunthornthepvarakul T., Gottschalk M., Hayashi Y. Resistance to thyrotropin and other abnormalities of the thyrotropin receptor. Recent Prog. Hormone Res. 51:1996;97-122
35. Richards A.J., Yates J.R.W., Williams R., Payne S.J., Pope F.M., Scott J.D., Snead M.P. A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha-1(XI) collagen. Hum. Mol. Genet. 5:1996;1339-1343
36. Shanske A., Bogdanow A., Shprintzen R.J., Marion R.W. Marshall syndrome and a defect at the COL11A1 locus. Am. J. Hum. Genet. 63:1998;1558-1559
37. Shapiro M.B., Senapathy P. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res. 15:1987;7155-7174
38. Sunthornthepvarakul T., Gottschalk M.E., Hayashi Y., Refetoff S. Resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. N. Engl. J. Med. 332:1995;155-160
39. Thierfelder L., Watkins H., MacRae C., Lamas R., McKenna W., Vosberg H.-P., Seidman J.G., Seidman C.E. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy-a disease of the sarcomere. Cell. 77:1994;701-712
40. Toublenc J.E. Comparison of epidemiological data on congenital hypothyroidism in Europe with those of other parts in the world. Horm. Res. 38:1992;230-235
41. Trubia M., Sessa L., Taramelli R. Mammalian Rh/T2/S-glycoprotein ribonuclease family genes: cloning of a human member located in a region of chromosome 6 (6q27) frequently deleted in human malignancies. Genomics. 42:1997;342-344
42. Van Vliet G. Development of the thyroid gland: lessons from congenitally hypothyroid mice and men. Clin. Genet. 63:2003;445-455
43. Vilain C., Rydlewski C., Duprez L., Heinrichs C., Abramowicz M., Malavaux P., Renneborg B., Parma J., Costagliola S., Vassart G. Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. J. Clin. Endocrinol. Metab. 86:2001;234-238
44. Watkins H., Mckenna W.J., Thierfelder L., Suk H.J., Anan R., O'Donoghue A., Spirito P., Matsumori A., Moravec C.S., Seidman J.G., Seidman C.E. Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. N. Engl. J. Med. 332:1995;1058-1064
45. White T., Bennett E.P., Takio K., Sorensen T., Bonding N., Clausen H. Purification and cDNA cloning of a human UDP-N-acetyl-alpha-D-galactosamine: polypeptide N-acetylgalactosaminyltransferase. J. Biol. Chem. 270:1995;24156-24165
46. Zannini M., Avantaggiato V., Biffali E., Arnone M.I., Sato K., Pischetola M., Taylor B.A., Phillips S.J., Simeone A., Di Lauro R. 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. 16:1997;3185-3197