Hildebrand Michael S, de Silva Michelle G, Klockars Tuomas, Campbell Colleen A, Smith Richard J H, Dahl Hans-Henrik M
Department of Otolaryngology - Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA.
Hear Res. 2007 Mar;225(1-2):1-10. doi: 10.1016/j.heares.2007.01.015. Epub 2007 Jan 18.
Recent developments in molecular genetics, including progress in the human genome project, have allowed identification of genes at an unprecedented rate. To date gene expression profiling studies have focused on identifying transcripts that are specifically or preferentially enriched within the inner ear on the assumption that they are more likely to be important for auditory and vestibular function. It is now apparent that some genes preferentially expressed in the cochleo-vestibular system are not crucial for hearing or balance or their functions are compensated for by other genes. In addition, transcripts expressed at low abundance in the inner ear are generally under-represented in gene profiling studies. In this review, we highlight the limitations of current gene expression profiling strategies as a discovery tool for genes involved in cochleo-vestibular development and function. We argue that expression profiling based on hierarchical clustering of transcripts by gene ontology, combined with tissue enrichment data, is more effective for inner ear gene discovery. This approach also provides a framework to assist and direct the functional characterization of gene products.
分子遗传学的最新进展,包括人类基因组计划所取得的成果,使得人们以前所未有的速度识别出各种基因。迄今为止,基因表达谱研究主要集中于识别那些在内耳中特异性或优先富集的转录本,因为人们假定这些转录本更有可能对听觉和前庭功能至关重要。现在很明显,一些在耳蜗 - 前庭系统中优先表达的基因对于听力或平衡并非至关重要,或者它们的功能可由其他基因代偿。此外,在内耳中低丰度表达的转录本在基因谱研究中通常代表性不足。在本综述中,我们强调了当前基因表达谱策略作为发现参与耳蜗 - 前庭发育和功能的基因的工具所存在的局限性。我们认为,基于基因本体对转录本进行层次聚类的表达谱分析,结合组织富集数据,对于内耳基因的发现更为有效。这种方法还提供了一个框架,以协助和指导基因产物的功能表征。