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

Elena Amendola, Remo Sanges, Antonella Galvan, Nina Dathan, Giacomo Manenti, Giuseppe Ferrandino, Francesca Maria Alvino, Tina Di Palma, Marzia Scarf̀o, Mariastella Zannini, Tommaso A. Dragani, Mario De Felice, Roberto Di Lauro, R. M

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)1948-1958
Number of pages11
JournalEndocrinology
Volume151
Issue number4
DOIs
Publication statusPublished - Apr 2010

ASJC Scopus subject areas

  • Endocrinology

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    Amendola, E., Sanges, R., Galvan, A., Dathan, N., Manenti, G., Ferrandino, G., Alvino, F. M., Di Palma, T., Scarf̀o, M., Zannini, M., Dragani, T. A., De Felice, M., Di Lauro, R., & M, R. (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), 1948-1958. https://doi.org/10.1210/en.2009-1240