| First Author | Amendola E | Year | 2010 |
| Journal | Endocrinology | Volume | 151 |
| Issue | 4 | Pages | 1948-58 |
| PubMed ID | 20160132 | Mgi Jnum | J:160018 |
| Mgi Id | MGI:4453270 | Doi | 10.1210/en.2009-1240 |
| Citation | Amendola E, et al. (2010) A locus on mouse chromosome 2 is involved in susceptibility to congenital hypothyroidism and contains an essential gene expressed in thyroid. Endocrinology 151(4):1948-58 |
| abstractText | 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. |
