Mutations in TAZ/WWTR1, a co-activator of NKX2.1 and PAX8 are not a frequent cause of thyroid dysgenesis

Journal of Endocrinological Investigation

Volumn 32, Issue 3, 2009, Pages 238-241

  Ferrara, A M ^a   De Sanctis, L ^b   Rossi, G ^a   Capuano, S ^a   Del Prete, G ^a   Zampella, E ^a   Gianino, P ^b   Corrias, A ^c   Fenzi, G ^a   Zannini, M ^a   Macchia, P E ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b UNIVERSITY OF TURIN   (Italy)

^c REGINA MARGHERITA CHILDREN S HOSPITAL   (Italy)

Author keywords

Cofactor; Congenital hypothyroidism; Thyroid development; Thyroid dysgenesis; Transcription factor

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR NKX2.1; TRANSCRIPTION FACTOR PAX8; TRANSCRIPTION FACTOR TAZ; UNCLASSIFIED DRUG;

ARTICLE; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PROTEIN PROTEIN INTERACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; THYROID DYSGENESIS;

EID: 67651250122     PISSN: 03914097     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03346459     Document Type: Article

References (21)

1. De Felice M, Di Lauro R. Thyroid development and its disorders: genetics and molecular mechanisms. Endocr Rev 2004, 25: 722-46. (Pubitemid 39362295)
2. Dentice M, Cordeddu V, Rosica A, et al. Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. J Clin Endocrinol Metab 2006, 91: 1428-1433
3. Francis GA, Fayard E, Picard F, Auwerx J. Nuclear receptors and the control of metabolism. Annu Rev Physiol 2003, 65: 261-311.
4. Muller YL, Bogardus C, Pedersen O, Baier L. A Gly482Ser missense mutation in the peroxisome proliferator-activated receptor gamma coactivator-1 is associated with altered lipid oxidation and early insulin secretion in Pima Indians. Diabetes 2003, 52: 895-898 (Pubitemid 36323602)
5. Vianna CR, Huntgeburth M, Coppari R, et al. Hypomorphic mutation of PGC-1beta causes mitochondrial dysfunction and liver insulin resistance. Cell Metab 2006, 4: 453-464 (Pubitemid 44817352)
6. Hallam TM, Bourtchouladze R. Rubinstein-Taybi syndrome: molecular findings and therapeutic approaches to improve cognitive dysfunction. Cell Mol Life Sci 2006, 63: 1725-1735 (Pubitemid 44223082)
7. Goodrich DW. The retinoblastoma tumor-suppressor gene, the exception that proves the rule. Oncogene 2006, 25: 5233-5243 (Pubitemid 44299082)
8. Kanai F, Marignani PA, Sarbassova D, et al. TAZ: a novel transcriptional co-activator regulated by interactions with 14-3-3 and PDZ domain proteins. EMBO J 2000, 19: 6778-6791 (Pubitemid 32011671)
9. Di Palma T, D'Andrea B, Liguori GL, et al. TAZ is a coactivator for Pax8 and TTF-1, two transcription factors involved in thyroid differentiation. Exp Cell Res 2009, 315: 162-175
10. Park KS, Whitsett JA, Di Palma T, Hong JH, Yaffe MB, Zannini M. TAZ interacts with TTF-1 and regulates expression of surfactant protein-C. J Biol Chem 2004, 279: 17384-17390 (Pubitemid 38560499)
11. Grasberger H, Ringkananont U, Lefrancois P, Abramowicz M, Vassart G, Refetoff S. Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity. Mol Endocrinol 2005, 19: 1779-1791 (Pubitemid 41007890)
12. Nitsch R, Di Palma T, Mascia A, Zannini M. WBP-2, a WW domain binding protein, interacts with the thyroid-specific transcription factor Pax8. Biochem J 2004, 377: 553-560 (Pubitemid 38221827)
13. Di Palma T, Nitsch R, Mascia A, Nitsch L, Di Laura R, Zannini M. The paired domain-containing factor Pax8 and the homeodomain-containing factor TTF-1 directly interact and synergistically activate transcription. J Biol Chem 2003, 278: 3395-3402 (Pubitemid 36801255)
14. Hossain Z, Ali SM, Ko HL, et al. Glomerulocystic kidney disease in mice with a targeted inactivation of Wwtrl. Proc Natl Acad Sci U S A 2007, 104: 1631-1636 (Pubitemid 46214642)
15. Tian Y, Kolb R, Hong JH, et al. TAZ promotes PC2 degradation through a SCFbeta-Trcp E3 ligase complex. Mol Cell Biol 2007, 27: 6383-6395 (Pubitemid 47435745)
16. Meunier D, Aubin J, Jeannotte L. Perturbed thyroid morphology and transient hypothyroidism symptoms in Hoxa5 mutant mice. Dev Dyn 2003, 227: 367-378 (Pubitemid 36828757)
17. Mansouri A, Chowdhury K, Gruss P. Follicular cells of the thyroid gland require Pax8 gene function. Nat Genet 1998, 19: 87-90. (Pubitemid 28242031)
18. Murakami M, Tominaga J, Makita R, et al. Transcriptional activity of Pax3 is co-activated by TAZ. Biochem Biophys Res Commun 2006, 339: 533-539 (Pubitemid 41739700)
19. Hong JH, Hwang ES, McManus MT, et al. TAZ, a transcriptional modulator of mesenchymal stem cell differentiation. Science 2005, 309: 1074-1078 (Pubitemid 41134465)
20. Mahoney WM Jr, Hong JH, Yaffe MB, Farrance IK. The transcriptional co-activator TAZ interacts differentially with transcriptional enhancer factor-1 (TEF-1) family members. Biochem J 2005, 388: 217-225 (Pubitemid 40732949)
21. Murakami M, Nakagawa M, Olson EN, Nakagawa O. A WW domain protein TAZ is a critical coactivator for TBX5, a transcription factor implicated in Holt-Oram syndrome. Proc Natl Acad Sci U S A 2005, 102: 18034-18039 (Pubitemid 41798497)