Lewis Morag A, Quint Elizabeth, Glazier Anne M, Fuchs Helmut, De Angelis Martin Hrabé, Langford Cordelia, van Dongen Stijn, Abreu-Goodger Cei, Piipari Matias, Redshaw Nick, Dalmay Tamas, Moreno-Pelayo Miguel Angel, Enright Anton J, Steel Karen P
Wellcome Trust Sanger Institute, Hinxton, UK.
Nat Genet. 2009 May;41(5):614-8. doi: 10.1038/ng.369. Epub 2009 Apr 12.
Progressive hearing loss is common in the human population, but little is known about the molecular basis. We report a new N-ethyl-N-nitrosurea (ENU)-induced mouse mutant, diminuendo, with a single base change in the seed region of Mirn96. Heterozygotes show progressive loss of hearing and hair cell anomalies, whereas homozygotes have no cochlear responses. Most microRNAs are believed to downregulate target genes by binding to specific sites on their mRNAs, so mutation of the seed should lead to target gene upregulation. Microarray analysis revealed 96 transcripts with significantly altered expression in homozygotes; notably, Slc26a5, Ocm, Gfi1, Ptprq and Pitpnm1 were downregulated. Hypergeometric P-value analysis showed that hundreds of genes were upregulated in mutants. Different genes, with target sites complementary to the mutant seed, were downregulated. This is the first microRNA found associated with deafness, and diminuendo represents a model for understanding and potentially moderating progressive hair cell degeneration in hearing loss more generally.
进行性听力损失在人群中很常见,但对其分子基础知之甚少。我们报告了一种新的N-乙基-N-亚硝基脲(ENU)诱导的小鼠突变体,diminuendo,其Mirn96种子区域有一个单碱基变化。杂合子表现出进行性听力丧失和毛细胞异常,而纯合子没有耳蜗反应。大多数微小RNA被认为通过与mRNA上的特定位点结合来下调靶基因,因此种子区域的突变应该导致靶基因上调。微阵列分析显示纯合子中有96个转录本表达显著改变;值得注意的是,Slc26a5、Ocm、Gfi1、Ptprq和Pitpnm1被下调。超几何P值分析表明突变体中有数百个基因上调。与突变种子互补的靶位点的不同基因被下调。这是第一个发现与耳聋相关的微小RNA,diminuendo代表了一个更广泛地理解和潜在调节听力损失中进行性毛细胞退化的模型。