Unique transgenic animal model for hereditary hearing loss.
Unique transgenic animal model for hereditary hearing loss.
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DOI：
10.1177/000348940811701106
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发表时间：
2008-11
期刊：
影响因子：
--
通讯作者：
Hannan F
中科院分区：
文献类型：
--
作者：
Cosetti M;Culang D;Kotla S;O'Brien P;Eberl DF;Hannan F
本研究利用果蝇和哺乳动物听觉器官之间独特的分子和发育相似性，在遗传学上易于处理的实验动物模型果蝇中研究与人类综合征和非综合征性听力损失有关的基因。通过序列相似性分析，鉴定了3个人类耳聋基因（DIAPH 1/DFNA 1、ESPN/DFNB 36和TMHS/DFNB 67）在果蝇中的对应序列。一个电生理分析被用来记录声音诱发电位响应于声刺激，果蝇求偶歌。与野生型果蝇相比，具有影响透明、分叉和CG 12026/TMHS基因的突变的果蝇显示出声音诱发电位幅度的显著降低（p < 0.05至p < 0.005）。平均响应从野生型果蝇的约500至600 μV降至大多数突变果蝇的约100至300 μV。在人类耳聋基因的果蝇直系同源基因中识别出显著的听觉功能障碍将有助于探索听觉机械感觉的分子生物化学。这可能最终允许对人类遗传性听力损失进行新的诊断和治疗方法。
This study capitalizes on the unique molecular and developmental similarities between the auditory organs of Drosophila and mammals, to investigate genes implicated in human syndromic and nonsyndromic hearing loss in a genetically tractable experimental animal model, the fruit fly Drosophila. The Drosophila counterparts of 3 human deafness genes (DIAPH1/DFNA1, ESPN/DFNB36, and TMHS/DFNB67) were identified by sequence similarity. An electrophysiological assay was used to record sound-evoked potentials in response to an acoustic stimulus, the Drosophila courtship song. Flies with mutations affecting the diaphanous, forked, and CG12026/TMHS genes displayed significant reductions in the amplitude of sound-evoked potentials compared to wild-type flies (p < 0.05 to p < 0.005). The mean responses were reduced from approximately 500 to 600 μV in wild-type flies to approximately 100 to 300 μV in most mutant flies. The identification of significant auditory dysfunction in Drosophila orthologs of human deafness genes will facilitate exploration of the molecular biochemistry of auditory mechanosensation. This may eventually allow for novel diagnostic and therapeutic approaches to human hereditary hearing loss.
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影响因子：
10.5
作者：
Hamada, FN;Park, PJ;Kuroda, MI
通讯作者：
Kuroda, MI
影响因子：
2.7
作者：
Du, Xiaoping;Jensen, Patricia;Hamre, Kristin M.
通讯作者：
Hamre, Kristin M.
DOI：
10.1007/s003590100206
发表时间：
2001-06-01
影响因子：
2.1
作者：
Tauber, E;Eberl, DF
通讯作者：
Eberl, DF
影响因子：
4
作者：
Shabbir, M. I.;Ahmed, Z. M.;Riazuddin, Sheikh
通讯作者：
Riazuddin, Sheikh
影响因子：
56.9
作者：
Walker, RG;Willingham, AT;Zuker, CS
通讯作者：
Zuker, CS