A Locus on Mouse Chromosome 2 Is Involved in Susceptibility to Congenital Hypothyroidism and Contains an Essential Gene Expressed in Thyroid.
- Amendola E.
- Sanges R.
- Galvan A.
- Dathan N.
- Manenti G.
- Ferrandino G.
- Alvino F.M.
- Di Palma T.
- Scarfò M.
- Zannini M.
- Dragani T.
- DE FELICE, MARIO
- DI LAURO, ROBERTO
Publication date
January 2010
DOI Publisher
The Endocrine Society ISSN
0013-7227 Citation count (estimate)
13Abstract
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
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