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Noncoding Mutations in a Thyroid Hormone Receptor Gene That Impair Cone Photoreceptor Function.

Hong Liu¹, Ailing Lu¹, Kevin A Kelley²

¹NIDDK, Laboratory of Endocrinology and Receptor Biology, National Institutes of Health, Bethesda, MD 20892, USA.

|January 11, 2023

Summary

Investigating a thyroid hormone receptor gene enhancer in mice revealed critical nuances in gene regulation. Specific mutations impacted receptor expression in cones and pituitary, affecting vision and hormone function.

Keywords:

THRB color vision enhancer retina thyroid hormone receptor

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Area of Science:

Endocrinology
Molecular Biology
Genetics

Background:

Hormone receptor function depends on precise gene expression control.
Thyroid hormone receptor β2 (TRβ2) is selectively expressed in the pituitary and cone photoreceptors.
TRβ2 regulates opsin gene expression essential for color vision.

Purpose of the Study:

To investigate the physiological significance of a candidate enhancer for TRβ2 induction.
To understand the role of specific DNA sequences within an intron of the Thrb gene.
To examine enhancer function in the natural chromosomal context.

Main Methods:

Site-directed mutagenesis of a conserved intron region in the endogenous Thrb gene in mice.
Assessing the impact of mutations on TRβ2 expression in the pituitary and cone photoreceptors.
Analyzing chromatin acetylation and opsin expression in mutated cones.

Main Results:

Mutations in e-box sites preferentially impaired TRβ2 expression in cones.
Mutations in nearby sequences preferentially impaired TRβ2 expression in the pituitary.
A combined deletion impaired expression in both tissues, demonstrating bifunctional enhancer activity.
Cone-specific e-box mutations disrupted chromatin acetylation, blunted TRβ2 induction, and impaired opsin expression and light sensitivity.

Conclusions:

Enhancers must be studied in their natural chromosomal context to define biological relevance.
Enhancer function exhibits critical nuances in expression level and timing.
Noncoding DNA sequences significantly influence thyroid hormone functions.