CRISPR/Cas9 editing of the mouse Thra gene produces models with variable resistance to thyroid hormone.

CRISPR/Cas9 editing of the mouse Thra gene produces models with variable resistance to thyroid hormone.

Thyroid. 2017 Dec 05;:

Authors: Markossian S, Guyot R, Richard S, Teixeira M, Aguilera N, Bouchet M, Plateroti M, Guan W, Gauthier K, Aubert D, Flamant F

Abstract
Resistance to thyroid hormone due to THRA mutations (RTHα) is a recently discovered genetic disease, displaying important variability in its clinical presentation. The mutations alter the function of TRα1, one of the two nuclear receptors for thyroid hormone. Our aim was to understand the relationship between specific THRA mutations and phenotype. We used CRISPR/Cas9 genome editing to generate 5 new mouse models of RTHα, with frameshift or missense mutations. Like human patients, mutant mice displayed a hypothyroid-like phenotype, with altered development. Phenotype severity varied between the different mouse models, mainly depending on the ability of the mutant receptor to interact with transcription corepressor in the presence of thyroid hormone.

PMID: 29205102 [PubMed - as supplied by publisher]

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