Murine models for the study of thyroid gland development

Endocrine Development

Volumn 10, Issue , 2007, Pages 1-14

  Felice, M ^a,b   Lauro, R ^a,b  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b Grande Ospedale Metropolitano   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL; ANIMAL MODEL; EMBRYO DEVELOPMENT; GENETICS; HUMAN; MOUSE; MUTATION; PRENATAL DEVELOPMENT; REVIEW; THYROID DYSGENESIS; THYROID GLAND;

ANIMALS; EMBRYONIC DEVELOPMENT; HUMANS; MICE; MODELS, ANIMAL; MUTATION; THYROID DYSGENESIS; THYROID GLAND;

EID: 35148814146     PISSN: 14217082     EISSN: 16622979     Source Type: Book Series    
DOI: 10.1159/000106814     Document Type: Review

References (31)

1. Lazzaro D, Price M, De Felice M, Di Lauro R: The transcription factor TTF-1 is expressed at the onset of thyroid and lung morphogenesis and in restricted regions of the foetal brain. Development 1991;113:1093-1104.
2. De Felice M, Di Lauro R: Thyroid development and its disorders: genetics and molecular mechanisms. Endocr Rev 2004;25:722-746.
3. Thomas PQ, Brown A, Beddington R: Hex: a homeobox gene revealing peri-implantation asymmetry in the mouse embryo and an early transient marker of endothelial cell precursors. Development 1998;125:85-95.
4. Zannini MS, 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 1992;12:4230-4241.
5. Grapin-Botton A, Melton M: Endoderm development: from patterning to organogenesis. Trends Genet 2000;16:124-130.
6. Parlato R, Rosica A, Rodriguez-Mallon A, Affuso A, Postiglione MP, Arra C, Mansouri A, Kimura S, Di Lauro R, De Felice M: An integrated regulatory network controlling survival and migration in thyroid organogenesis. Dev Biol 2004;276:464-475.
7. Fagman H, Andersson L, Nilsson M: The developing mouse thyroid: embryonic vessel contacts and parenchymal growth pattern during specification, budding, migration, and lobulation. Dev Dyn 2006;235:444-455.
8. Trueba SS, Auge J, Mattei G, Etchevers H, Martinovic J, Czernichow P, Vekemans M, Polak M, Attie-Bitach T: PAX8, TITF1 and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis associated malformations. J Clin Endocrinol Metab 2004;90:455-462.
9. Martinez Barbera JP, Clements M, Thomas P, Rodriguez T, Meloy D, Kioussis D, Beddington RS: The homeobox gene Hex is required in definitive endodermal tissues for normal forebrain, liver and thyroid formation. Development 2000;127:2433-2445.
10. Mansouri A, Chowdhury K, Gruss P: Follicular cells of the thyroid gland require Pax8 gene function. Nat Genet 1998;19:87-90.
11. Kimura S, Hara Y, Pineau T, Fernandez-Salguero P, Fox CH, Ward JM, Gonzalez FJ: 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 1996;10:60-69.
12. Kusakabe T, Hoshi N, Kimura S: Origin of the ultimobranchial body cyst: T/ebp/Nkx2.1 expression is required for development and fusion of the ultimobranchial body to the thyroid. Dev Dyn 2006;235:1300-1309.
13. Pohlenz J, Dumitrescu A, Zundel D, Martine U, Schonberger W, Koo E, Weiss RE, Cohen RN, Kimura S, Refetoff S: Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. J Clin Invest 2002;109:469-473.
14. Revest JM, Spencer-Dene B, Kerr K, De Moerlooze L, Rosewell I, Dickson C: Fibroblast growth factor receptor 2-IIIb acts upstream of Shh and Fgf4 and is required for limb bud maintenance but not for the induction of Fgf8, Fgf10, Msx1, or Bmp4. Dev Biol 2001;231:47-62.
15. Krude H, Schutz B, Biebermann H, von Moers A, Schnabel D, Neitzel H, Tonnies H, Weise D, Lafferty A, Schwarz S, De Felice M, von Deimling A, van Landeghem F, Di Lauro R, Gruters A: Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. J Clin Invest 2002;109:475-480.
16. Plachov D, Chowdhury K, Walther C, Simon D, Guenet JL, Gruss P: Pax8, a murine paired box gene expressed in the developing excretory system and thyroid gland. Development 1990;110:643-651.
17. Macchia PE, Lapi P, Krude H, Pirro MT, Missero C, Chiovato L, Souabni A, Baserga M, Tassi V, Pinchera A, Fenzi G, Gruters A, Busslinger M, Di Lauro R: PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nat Genet 1998;19:83-86.
18. Dathan N, Parlato R, Rosica A, De Felice M, Di Lauro R: Distribution of the titf2/foxe1 gene product is consistent with an important role in the development of foregut endoderm, palate, and hair. Dev Dyn 2002;224:450-456.
19. De Felice M, Ovitt C, Biffali E, Rodriguez-Mallon A, Arra C, Anastassiadis K, Macchia PE, Mattei MG, Mariano A, Schoeler H, Macchia V, Di Lauro R: A mouse model for hereditary thyroid dysgenesis and cleft palate. Nat Genet 1998;19:395-398.
20. Fagman H, Grande M, Edsbagge J, Semb H, Nilsson M: Expression of classical cadherins in thyroid development: maintenance of an epithelial phenotype throughout organogenesis. Endocrinology 2003;144:3618-3624.
21. Clifton-Bligh RJ, Wentworth JM, Heinz P, Crisp MS, John R, Lazarus JH, Ludgate M, Chatterjee V: Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. Nat Genet 1998;19:399-401.
22. Fagman H, Grande M, Gritli-Linde A, Nilsson M: Genetic deletion of sonic hedgehog causes hemiagenesis and ectopic development of the thyroid in mouse. Am J Pathol 2004;164:1865-1872.
23. Amendola E, De Luca P, Macchia PE, Terracciano D, Rosica A, Chiappetta G, Kimura S, Mansouri A, Affuso A, Arra C, Macchia V, Di Lauro R, De Felice M: A mouse model demonstrates a multigenic origin of congenital hypothyroidism. Endocrinology 2005;146:5038-5047.
24. Postiglione MP, Parlato R, Rodriguez-Mallon A, Rosica A, Mithbaokar P, Maresca M, Marians RC, Davies TF, Zannini MS, De Felice M, Di Lauro R: Role of the thyroid-stimulating hormone receptor signaling in development and differentiation of the thyroid gland. Proc Natl Acad Sci USA 2002;99:15462-15467.
25. Marians RC, Ng L, Blair HC, Unger P, Graves PN, Davies TF: Defining thyrotropin-dependent and -independent steps of thyroid hormone synthesis by using thyrotropin receptor-null mice. Proc Natl Acad Sci USA 2002;99:15776-15781.
26. Refetoff S: Resistance to thyrotropin. J Endocrinol Invest 2003;26:770-779.
27. Ledent C, Dumont JE, Vassart G, Parmentier M: Thyroid expression of an A2 adenosine receptor transgene induces thyroid hyperplasia and hyperthyroidism. EMBO J 1992;11:537-542.
28. Castanet M, Sura Trueba S, Chauty A, Carré A, Heath S, Léger J, Lyonnet S, Czernichow P, Polak M: Linkage and mutational analysis of familial thyroid dysgenesis suggest genetic heterogeneity. Eur J Hum Genet 2005;13:232-239.
29. Dentice M, Cordeddu V, Rosica A, Ferrara AM, Santarpia L, Salvatore D, Chiovato L, Perri A, Moschini L, Fazzini C, Olivieri A, Costa P, Stoppioni V, Baserga M, De Felice M, Sorcini M, Fenzi G, Di Lauro R, Tartaglia M, Macchia PE: 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.
30. Perry R, Heinrichs C, Bourdoux P, Khoury K, Szots F, Dussault JH, Vassart G, Van Vliet G: Discordance of monozygotic twins for thyroid dysgenesis: implications for screening and for molecular pathophysiology. J Clin Endocrinol Metab 2002;87:4072-4077.
31. Vassart G, Dumont JE: Thyroid dysgenesis: multigenic or epigenetic, or both. Endocrinology 2005;146:5035-5037.