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Amendola E.,BioGeM | Amendola E.,Stazione Zoologica Anton Dohrn | Sanges R.,BioGeM | Dathan N.,CNR Institute of Biostructure and Bioimaging | And 12 more authors.
Endocrinology | Year: 2010

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. Copyright © 2010 by The Endocrine Society. Source

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