A locus on mouse chromosome 2 is involved in susceptibility to congenital hypothyroidism and contains an essential gene expressed in thyroid

Endocrinology

Volumn 151, Issue 4, 2010, Pages 1948-1958

  Amendola, Elena ^a,f   Sanges, Remo ^a   Galvan, Antonella ^b   Dathan, Nina ^c   Manenti, Giacomo ^b   Ferrandino, Giuseppe ^a   Alvino, Francesca Maria ^a   Di Palma, Tina ^d   Scarf̀o, Marzia ^a   Zannini, Mariastella ^d   Dragani, Tommaso A ^b   De Felice, Mario ^a,e   Di Lauro, Roberto ^a,e,f  

^a Grande Ospedale Metropolitano   (Italy)

^b NATIONAL CANCER INSTITUTE   (Italy)

^c CNR   (Italy)

^d CNR   (Italy)

^e UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^f STAZIONE ZOOLOGICA ANTON DOHRN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

HEAT SHOCK PROTEIN 40; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR NKX2.1; TRANSCRIPTION FACTOR PAX8; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CHROMOSOME 2; CHROMOSOME MAP; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; DISEASE PREDISPOSITION; GENE EXPRESSION; GENE LOCUS; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; GENETIC TRANSCRIPTION; MOUSE; NONHUMAN; ORGANOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 77950268599     PISSN: 00137227     EISSN: 00137227     Source Type: Journal    
DOI: 10.1210/en.2009-1240     Document Type: Article

References (52)

1. Vassart G, Dumont JE 2005 Thyroid dysgenesis: multigenic or epigenetic or both. Endocrinology 146:5035-5037
2. Grüters A, Krude H, Biebermann H 2004 Molecular genetic defects in congenital hypothyroidism. Eur J Endocrinol 151:U39-U44
3. De Felice M, Di Lauro R 2004 Thyroid development and its disorders: genetics and molecular mechanisms. Endocr Rev 25:722-746
4. Perry R, Heinrichs C, Bourdoux P, Khoury K, Szöts F, Dussault JH, Vassart G, Van Vliet G 2002 Discordance of monozygotic twins for thyroid dysgenesis: implications for screening and for molecular pathophysiology. J Clin Endocrinol Metab 87:4072-4077
5. Park SM, Chatterjee VK 2005 Genetics of congenital hypothyroidism. J Med Genet 42:379-389
6. Congdon T, Nguyen LQ, Nogueira CR, Habiby RL, Medeiros-Neto G, Kopp P 2001 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 86:3962-3967
7. Komatsu M, Takahashi T, Takahashi I, Nakamura M, Takahashi I, Takada G 2001 Thyroid dysgenesis caused by PAX8 mutation: the hypermutability with CpG dinucleotides at codon 31. J Pediatr 139:597-599
8. Macchia PE, Lapi P, Krude H, Pirro MT, Missero C, Chiovato L, Souabni A, Baserga M, Tassi V, Pinchera A, Fenzi G, Grüters A, Busslinger M, Di Lauro R 1998 PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nat Genet 19:83-86
9. Meeus L, Gilbert B, Rydlewski C, Parma J, Roussie AL, Abramowicz M, Vilain C, Christophe D, Costagliola S, Vassart G 2004 Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid. J Clin Endocrinol Metab 89:4285-4291
10. Vilain C, Rydlewski C, Duprez L, Heinrichs C, Abramowicz M, Malvaux P, Renneboog B, Parma J, Costagliola S, Vassart G 2001 Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. J Clin Endocrinol Metab 86:234-238
11. Baris I, Arisoy AE, Smith A, Agostini M, Mitchell CS, Park SM, Halefoglu AM, Zengin E, Chatterjee VK, Battaloglu E 2006 A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis. J Clin Endocrinol Metab 91:4183-4187
12. Castanet M, Park SM, Smith A, Bost M, Léger J, Lyonnet S, Pelet A, Czernichow P, Chatterjee K, Polak M 2002 A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. Hum Mol Genet 11:2051-2059
13. Clifton-Bligh RJ, Wentworth JM, Heinz P, Crisp MS, John R, Lazarus JH, Ludgate M, Chatterjee VK 1998 Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. Nat Genet 19:399-401
14. Krude H, Schütz B, Biebermann H, von Moers A, Schnabel D, Neitzel H, Tönnies H, Weise D, Lafferty A, Schwarz S, DeFelice M, von Deimling A, van Landeghem F, DiLauro R, Grüters A 2002 Choreoathetosis, hypothyroidism, and pulmonary alterations due to human Nkx2-1 haploinsufficiency. J Clin Invest 109:475-480
15. Moeller LC, Kimura S, Kusakabe T, Liao XH, Van Sande J, Refetoff S 2003 Hypothyroidism in thyroid transcription factor 1 haploinsufficiency is caused by reduced expression of the thyroid stimulating hormone receptor. Mol Endocrinol 17:2295-2302
16. Moya CM, Perez de Nanclares G, Castaño L, Potau N, Bilbao JR, Carrascosa A, Bargadá M, Coya R, Martul P, Vicens-Calvet E, Santisteban P 2006 Functional study of a novel single deletion in the TITF1/NKX2.1 homeobox gene that produces congenital hypothyroidism and benign chorea but not pulmonary distress. J Clin Endocrinol Metab 91:1832-1841
17. Pohlenz J, Dumitrescu A, Zundel D, Martiné U, Schönberger W, Koo E, Weiss RE, Cohen RN, Kimura S, Refetoff S 2002 Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. J Clin Invest 109:469-473
18. 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 2006 Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. J Clin Endocrinol Metab 91:1428-1433
19. Castanet M, Sura-Trueba S, Chauty A, Carré A, de Roux N, Heath S, Léger J, Lyonnet S, Czernichow P, Polak M 2005 Linkage and mutational analysis of familial thyroid dysgenesis suggest genetic heterogeneity. Eur J Hum Genet 13:232-239
20. Castanet M, Polak M, Bonaïti-Pellié C, Lyonnet S, Czernichow P, Léger J 2001 Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factors. J Clin Endocrinol Metab 86:2009-2014
21. Almind K, Kulkarni RN, Lannon SM, Kahn CR 2003 Identification of interactive loci linked to insulin and leptin in mice with genetic insulin resistance. Diabetes 52:1535-1543
22. Brüning JC, Winnay J, Bonner-Weir S, Taylor SI, Accili D, Kahn CR 1997 Development of a novel polygenic model of NIDDM in mice heterozygous for IR and IRS-1 null alleles. Cell 88:561-572
23. Cormier RT, Bilger A, Lillich AJ, Halberg RB, Hong KH, Gould KA, Borenstein N, Lander ES, Dove WF 2000 The Mom 1 AKR intestinal tumor resistance region consists of Pla2g2a and a locus distal to D4Mit64. Oncogene 19:3182-3192
24. Taddei I, Morishima M, Huynh T, Lindsay EA 2001 Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge/del22q11 syndromes. Proc Natl Acad Sci USA 98: 11428-11431
25. Nadeau JH 2003 Modifier genes and protective alleles in humans and mice. Curr Opin Genet Dev 13:290-295
26. 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 2005 A mouse model demonstrates a multigenic origin of congenital hypothyroidism. Endocrinology 146:5038-5047
27. Kero J, Ahmed K, Wettschureck N, Tunaru S, Wintermantel T, Greiner E, Schütz G, Offermanns S 2007 Thyrocyte-specificGq/G11 deficiency impairs thyroid function and prevents goiter development. J Clin Invest 117:2399-2407
28. Dathan N, Parlato R, Rosica A, De Felice M, Di Lauro R 2002 Distribution of the titf2/foxe1 gene product is consistent with an important role in the development of foregut endoderm, palate, and hair. Dev Dyn 224:450-456
29. Lander ES, Green P, Abrahamson J, Barlow A, Daly MJ, Lincoln SE, Newberg LA, Newburg L 1987 MAPMAKER: an interactive computer package for constructing primary genetic linkage maps of experimental and natural populations. Genomics 1:174-181
30. Broman KW, Wu H, Sen S, Churchill GA 2003 R/qtl: QTL mapping in experimental crosses. Bioinformatics 19:889-890
31. Sen S, Churchill GA 2001 A statistical framework for quantitative trait mapping. Genetics 159:371-387
32. Xu S, Atchley WR 1996 Mapping quantitative trait loci for complex binary diseases using line crosses. Genetics 143:1417-1424
33. Kruglyak L, Lander ES 1995 A nonparametric approach for mapping quantitative trait loci. Genetics 139:1421-1428
34. Conover WJ, Iman RL 1981 Rank transformations as a bridge between parametric and nonparametric statistics. Am Stat 35:124-129
35. D'Andrea B, Iacone R, Di Palma T, Nitsch R, Baratta MG, Nitsch L, Di Lauro R, Zannini M 2006 Functional inactivation of the transcription factor Pax8 through oligomerization chain reaction. Mol Endocrinol 20:1810-1824
36. Lazzaro D, Price M, de Felice M, Di Lauro R 1991 The transcription factor TTF-1 is expressed at the onset of thyroid and lung morphogenesis and in restricted regions of the foetal brain. Development 113:1093-1104
37. De Felice M, Damante G, Zannini MS, Francis-Lang H, Di Lauro R 1995 Redundant domains contribute to the transcriptional activity of Thyroid Transcription Factor 1(TTF-1). J Biol Chem 270:26649-26656
38. Zannini M, Francis-Lang H, Plachov D, Di Lauro R 1992 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
39. Franco SJ, Huttenlocher A 2005 Regulating cell migration: calpains make the cut. J Cell Sci 118:3829-3838
40. Qiu XB, Shao YM, Miao S, Wang L 2006 The diversity of the DnaJ/Hsp40 family, the crucial partners for Hsp70 chaperones. Cell Mol Life Sci 63:2560-2570
41. Carlborg O, Haley C 2004 Epistasis: too often neglected in complex trait studies? Nat Rev Genet 5:618-625
42. Moreno JC, Visser TJ 2007 New phenotypes in thyroid dyshormonogenesis: hypothyroidism due to DUOX2 mutations. Endocr Dev 10:99-117
43. Thomas PD, Kejariwal A 2004 Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: evolutionary evidence for differences in molecular effects. Proc Natl Acad Sci USA 101:15398-15403
44. Grantham R 1974 Amino acid difference formula to help explain protein evolution. Science 185:862-864
45. Miller MP, Kumar S 2001 Understanding human disease mutations through the use of interspecific genetic variation. Hum Mol Genet 10:2319-2328
46. Blom N, Gammeltoft S, Brunak S 1999 Sequence and structure-based prediction of eukaryotic protein phosphorylation sites. J Mol Biol 294:1351-1362
47. Freeman BC, Yamamoto KR 2002 Disassembly of transcriptional regulatory complexes by molecular chaperones. Science 296:2232-2235
48. Mollaaghababa R, Sipos L, Tiong SY, Papoulas O, Armstrong JA, Tamkun JW, Bender W 2001 Mutations in Drosophila heat shock cognate 4 are enhancers of Polycomb. Proc Natl Acad Sci USA 98: 3958-3963
49. Dai YS, Xu J, Molkentin JD 2005 The DnaJ-related factor Mrj interacts with nuclear factor of activated T cells c3 and mediates transcriptional repression through class II histone deacetylase recruitment. Mol Cell Biol 22:9936-9948
50. Abiola O, Angel JM, Avner P, Bachmanov AA, Belknap JK, Bennett B, Blankenhorn EP, Blizard DA, Bolivar V, Brockmann GA, Buck KJ, Bureau JF, Casley WL, Chesler EJ, Cheverud JM, Churchill GA, Cook M, Crabbe JC, Crusio WE, Darvasi A, de Haan G, Dermant P, Doerge RW, Elliot RW, Farber CR, et al. 2003 The nature and identification of quantitative trait loci: a community's view. Nat Rev Genet 4:911-916
51. Wada S, Hamada M, Kobayashi K, Satoh N 2008 Novel genes involved in canonical Wnt/β-catenin signaling pathway in early Ciona intestinalis embryos. Dev Growth Differ 50:215-227
52. Biben C, Weber R, Kesteven S, Stanley E, McDonald L, Elliott DA, Barnett L, Köentgen F, Robb L, Feneley M, Harvey RP 2000 Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene NKX2-5. Circ Res 87:888-895