A Locus on Mouse Chromosome 2 Is Involved in Susceptibility to Congenital Hypothyroidism and Contains an Essential Gene Expressed in Thyroid-Reference-Cited by-同舟云学术

A Locus on Mouse Chromosome 2 Is Involved in Susceptibility to Congenital Hypothyroidism and Contains an Essential Gene Expressed in Thyroid

Published:2010-02-16 Issue:4 Volume:151 Page:1948-1958
ISSN:0013-7227
Container-title:Endocrinology
language:en
Short-container-title:

Author:

Amendola Elena¹²,Sanges Remo¹,Galvan Antonella¹³,Dathan Nina¹⁴,Manenti Giacomo¹³,Ferrandino Giuseppe¹⁵,Alvino Francesca Maria¹,Di Palma Tina¹³⁶,Scarfò Marzia¹,Zannini Mariastella⁶,Dragani Tommaso A.¹,De Felice Mario¹⁷,Di Lauro Roberto¹⁷²

Affiliation:

1. Biogem (E.A., R.S., F.G., F.M.A., M.S., M.D.F., R.D.L.), 83031 Ariano Irpino (AV), Italy;

2. Stazione Zoologica Anton Dohrn (R.D.L., E.A.), 80121 Naples, Italy

3. Dipartimento di Oncologia sperimentale e Medicina Molecolare, Fondazione IRCSS, Istituto Nazionale Tumori (A.G., G.M., T.D.), 20133 Milan, Italy;

4. Biogem s.c.a.r.l., 83031 Ariano Irpino, Italy Istituto di Biostrutture e Bioimmagini (N.D.) Università Federico II , 80131 Naples, Italy;

5. Institute of Genetic Research “Gaetano Salvatore” (IRGS) (G.F.) Università Federico II , 80131 Naples, Italy;

6. Istituto di Endocrinologia ed Oncologia Sperimentale (T.D.P., M.Z.), Consiglio Nazionale delle Ricerche, 80131 Naples, Italy;

7. Dipartimento di Biologia e Patologia Cellulare e Molecolare (M.D.F., R.D.L.), Università Federico II , 80131 Naples, Italy;

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.

Publisher

The Endocrine Society

Subject

Endocrinology

Link

http://academic.oup.com/endo/article-pdf/151/4/1948/9015696/endo1948.pdf

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