Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 2014-04-01

A novel mutation in thethyroglobulingene that causes goiter and dwarfism in Wistar Hannover GALAS rats

Akira Sato, Kuniya Abe, Misako Yuzuriha, Sakiko Fujii, Naofumi Takahashi, Hitoshi Hojo, Shoji Teramoto, Hiroaki Aoyama

Index: Mutat. Res. Fundam. Mol. Mech. Mutagen. 762 , 17-23, (2014)

Full Text: HTML

Abstract

• A novel mutation was found in thyroglobulin (Tg) gene in Wistar Hannover GALAS rats. • A SNP at the acceptor site of 6th intron caused aberrant expression of Tg mRNA. • Mutant phenotypes, goiter and dwarfism, mimicked those caused by goitrogens. • Bimodal dose-responses in thyroidal weights could be attributed to the Tg mutation. • A genomic DNA-based diagnosing method was developed for detecting the Tg mutation.

Related Compounds

  • thyroglobulin, hum...
  • Dicofol

Related Articles:

Amyloid-like fibril formation by polyQ proteins: a critical balance between the polyQ length and the constraints imposed by the host protein.

2012-01-01

[PLoS ONE 7 , e31253, (2012)]

The thyroxine-containing thyroglobulin peptide (aa 2549-2560) is a target epitope in iodide-accelerated spontaneous autoimmune thyroiditis.

2014-07-01

[J. Immunol. 193(1) , 96-101, (2014)]

Relationship between urinary triclosan and paraben concentrations and serum thyroid measures in NHANES 2007-2008.

2013-02-15

[Sci. Total Environ. 445-446 , 299-305, (2013)]

Iodine contributes to thyroid autoimmunity in humans by unmasking a cryptic epitope on thyroglobulin.

2013-11-01

[J. Clin. Endocrinol. Metab. 98(11) , E1768-74, (2013)]

Hormonogenic donor Tyr2522 of bovine thyroglobulin. Insight into preferential T3 formation at thyroglobulin carboxyl terminus at low iodination level.

2014-07-18

[Biochem. Biophys. Res. Commun. 450(1) , 488-93, (2014)]

More Articles...