Dept. of Experimental Therapeutics, The University of Texas M D Anderson Cancer Center, Houston, TX 77030, USA.
Genomics. 2011 Feb;97(2):71-6. doi: 10.1016/j.ygeno.2010.10.004. Epub 2010 Oct 23.
A large number of loci for genetic diseases have been mapped on the human genome and a group of hereditary diseases among them have thus far proven unsuccessful to clone. It is conceivable that such "unclonable" diseases are not linked to abnormalities of protein coding genes (PCGs), but of non-coding RNAs (ncRNAs). We developed a novel approach termed OMiR (OMIM and miRNAs), to test whether microRNAs (miRNAs) exhibit any associations with mapped genetic diseases not yet associated with a PCG. We found that "orphan" genetic disease loci were proximal to miRNA loci more frequently than to loci for which the responsible protein coding gene is known, thus suggesting that miRNAs might be the elusive culprits. Our findings indicate that inclusion of miRNAs among the candidate genes to be considered could assist geneticists in their hunt for disease genes, particularly in the case of rare diseases.
大量的遗传疾病相关基因已经被定位在人类基因组上，其中一些遗传性疾病迄今未能成功克隆。可以想象，这种“无法克隆”的疾病与蛋白质编码基因（PCGs）的异常无关，而是与非编码 RNA（ncRNAs）有关。我们开发了一种新的方法，称为 OMiR（OMIM 和 miRNAs），以测试 microRNAs（miRNAs）是否与尚未与 PCG 相关的已定位的遗传疾病有任何关联。我们发现，“孤儿”遗传疾病基因座比已知其负责蛋白编码基因的基因座更常接近 miRNA 基因座，这表明 miRNA 可能是难以捉摸的罪魁祸首。我们的研究结果表明，在候选基因中纳入 miRNA 可以帮助遗传学家寻找疾病基因，特别是在罕见疾病的情况下。
