Elena Amendola,
Remo Sanges,
Antonella Galvan,
Nina Dathan,
Giacomo Manenti,
Giuseppe Ferrandino,
Francesca Maria Alvino,
Tina Di Palma,
Marzia Scarfò,
Mariastella Zannini, Tommaso A Dragani,
Mario De Felice,
Roberto Di Lauro
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ABSTRACT: We report here the mapping of a chromosomal region responsible for strain-specific development of congenital hypothyroidism in mice heterozygous for null mutations in genes encoding Nkx2-1/Titf1 and Pax8. The two strains showing a differential predisposition to congenital hypothyroidism contain several single-nucleotide polymorphisms in this locus, one of which leads to a nonsynonymous amino acid change in a highly conserved region of Dnajc17, a member of the type III heat-shock protein-40 (Hsp40) family. We demonstrate that Dnajc17 is highly expressed in the thyroid bud and had an essential function in development, suggesting an important role of this protein in organogenesis and/or function of the thyroid gland.
Endocrinology 02/2010; 151(4):1948-58. · 4.46 Impact Factor
