Deafness gene expression patterns in the mouse cochlea found by microarray analysis.
Deafness gene expression patterns in the mouse cochlea found by microarray analysis.
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DOI：
10.1371/journal.pone.0092547
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发表时间：
2014
期刊：
影响因子：
3.7
通讯作者：
Usami S
中科院分区：
文献类型：
--
作者：
Yoshimura H;Takumi Y;Nishio SY;Suzuki N;Iwasa Y;Usami S
音调映射是听觉功能的最基本原则之一。虽然已经报道了耳蜗的各种形态和生理特征的梯度，但关于基因表达的梯度模式的信息很少。此外，常染色体显性遗传性非综合征性耳聋的听力图可能是独特的，但其机制尚未阐明。我们认为耳蜗内基因表达的音调梯度可能是不同听力图的原因。我们比较了基因表达谱之间的顶端，中间，和基底回的小鼠耳蜗微阵列技术和定量RT-PCR。在24，547个基因中，有783个注释基因表达超过2倍。最显著的发现是四个基因（Pou 4f 3，Slc 17 a8，Tmc 1和Crym）的基因表达变化梯度，这些基因的突变导致常染色体显性耳聋。这些基因的表达是在顶端比在基地。有趣的是，Emilin-2和Tectb基因（可能在耳蜗中起关键作用）的表达在顶端也比在基部更高。本研究提供了耳蜗梯度基因表达的基线数据。特别是对于突变导致常染色体显性遗传性非综合征性听力损失的基因（Pou 4f 3，Slc 17 a8，Tmc 1和Crym）以及对耳蜗功能重要的基因（Emilin-2和Tectb），逐渐的表达变化可能有助于解释各种病理条件。
Tonotopy is one of the most fundamental principles of auditory function. While gradients in various morphological and physiological characteristics of the cochlea have been reported, little information is available on gradient patterns of gene expression. In addition, the audiograms in autosomal dominant non syndromic hearing loss can be distinctive, however, the mechanism that accounts for that has not been clarified. We thought that it is possible that tonotopic gradients of gene expression within the cochlea account for the distinct audiograms. We compared expression profiles of genes in the cochlea between the apical, middle, and basal turns of the mouse cochlea by microarray technology and quantitative RT-PCR. Of 24,547 genes, 783 annotated genes expressed more than 2-fold. The most remarkable finding was a gradient of gene expression changes in four genes (Pou4f3, Slc17a8, Tmc1, and Crym) whose mutations cause autosomal dominant deafness. Expression of these genes was greater in the apex than in the base. Interestingly, expression of the Emilin-2 and Tectb genes, which may have crucial roles in the cochlea, was also greater in the apex than in the base. This study provides baseline data of gradient gene expression in the cochlea. Especially for genes whose mutations cause autosomal dominant non syndromic hearing loss (Pou4f3, Slc17a8, Tmc1, and Crym) as well as genes important for cochlear function (Emilin-2 and Tectb), gradual expression changes may help to explain the various pathological conditions.
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TMC1的突变分析鉴定了四个新突变，并提出了位点DFNA36和DFNB7/11的额外耳聋基因。
影响因子：
3.5
作者：
Hilgert N;Alasti F;Dieltjens N;Pawlik B;Wollnik B;Uyguner O;Delmaghani S;Weil D;Petit C;Danis E;Yang T;Pandelia E;Petersen MB;Goossens D;Favero JD;Sanati MH;Smith RJ;Van Camp G
通讯作者：
Van Camp G
影响因子：
30.8
作者：
Kurima, K;Peters, LM;Griffith, AJ
通讯作者：
Griffith, AJ
影响因子：
9.8
作者：
Abe, S;Katagiri, T;Nakamura, Y
通讯作者：
Nakamura, Y
影响因子：
9.8
作者：
Ruel, Jerome;Emery, Sarah;Puel, Jean-Luc
通讯作者：
Puel, Jean-Luc
影响因子：
16.6
作者：
Ghaffari, Roozbeh;Aranyosi, Alexander J.;Richardson, Guy P.;Freeman, Dennis M.
通讯作者：
Freeman, Dennis M.