假基因鉴定及其功能分析

Identification and function analysis of pseudogenes

摘要:

被称为“垃圾基因”的假基因是真核生物基因组中的重要组成部分。近年来对假基因的功能研究表明其并非是基因组中的沉默成员。如一些假基因参与RNA转录，一些假基因转录本能够形成小干扰RNA (siRNA)，通过小RNA干扰作用调节功能基因。另外，还有研究发现，一些假基因能够通过microRNA调节肿瘤抑制因子。然而，对假基因功能的深入挖掘需要建立在对其更精准、更全面的鉴定基础之上。随着各物种全基因组测序的完成及序列比对算法的完善，全面而又精确地鉴定假基因已经成为可能。下文就近年来假基因相关鉴定方法、调节功能以及在进化上的意义进行了阐述，并对未来假基因研究方向进行了展望。

Abstract:

Pseudogenes, which have long been described as “fossils”, play a very important role in eukaryotic genomes. Recently, studies on the so called “junk gene” have attracted more attention. Far from being silent, pseudogenes participate in various biological activities, including being a part in the transcription process, or participating in the formation of small interfering RNA (siRNA) which regulated gene expression by means of the RNA-interference pathway. Recent studies have also shown that pseudogenes regulate tumor suppression through competing for the microRNA (miRNA) with their parent genes. However, a deeper understanding of function analysis of pseudogenes depends on the comprehensive and accurate identification. With the sequencing completion of many genomes and the innovation of bioinformatics tools, efficient and precise identification of pseudogenes have become available in a genome-wide scale. Our review focused particularly on the method of pseudogene identification, the mechanism of its regulatory roles and its potential to be applied in directed evolution. Besides, the promising research direction of pseudogenes was proposed.