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RNA-seq of cochlea in mice with a frameshift mutation in the reading frame of thyroid hormone receptor alpha1

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Thyroid hormone is known to be required for inner ear development. The influence of the thyroid hormone receptor alpha1 is however unclear, as most previous studies point to a predominant function of the TRbeta1/2 isotypes. We report a RNA-seq analysis which completes a full histological and functional analysis showing that mice carrying a mutation of the TRalpha1 receptor have mild alteration of inner ear. Whole inner ear RNA was extracted from heterozygous mutant mice carrying a frameshift mutation which alters the function of TRalpha1. These RNA were compared to RNA extracted from wild-type littermates.

已知甲状腺激素(Thyroid hormone)是内耳发育所必需的调控因子。然而,甲状腺激素受体α1(thyroid hormone receptor alpha1)的具体调控作用尚不明确,因既往多数研究均指出TRβ1/2亚型(TRbeta1/2 isotypes)发挥主要功能。本研究报道了一项RNA测序(RNA-seq)分析,该分析结合全面的组织学与功能学验证,证实携带TRα1受体(TRalpha1 receptor)突变的小鼠存在轻度内耳异常。研究人员从携带可破坏TRα1功能的移码突变的杂合突变小鼠体内提取了全内耳总RNA,并将其与同窝野生型小鼠的总RNA进行了对照分析。

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