今天我们先介绍一个概念——假基因:
∙Pseudogenes are segments of DNA that are related to real genes.
∙Pseudogenes are usually characterized by a combination of homology to a known gene and loss of some functionality. That is, although every pseudogene has a DNA sequence that is similar to some functional gene, they are usually unable to produce functional final protein products
∙Pseudogenes have lost at least some functionality, relative to the complete gene, in cellular gene expression or protein-coding ability.
∙Although not fully functional, pseudogenes may be functional, similar to other kinds of noncoding DNA, which can perform regulatory functions. The 'pseudo' in 'pseudogene' implies a variation in sequence relative to the parent coding gene, but does not necessarily indicate pseudo-function.
∙Despite being non-coding, many pseudogenes have important roles in normal physiology and abnormal pathology.
这里主要说了几个意思:假基因与“真(母)基因”在结构上可能不同,导致不能翻译真(母)基因的蛋白;但假基因也可能是有功能的,其可能以类似非编码RNA的形式起到调控作用。比如在Pseudogene in cancer: real functions and promising signature.J Med Genet. 2015 Jan;52(1):17-24. 这篇综述中就总结了肿瘤中的假基因分类、功能及研究意义: 基因调控网络
The origin and classification of pseudogene
Functions of pseudogenic RNA
假基因RNA的功能:(A)假基因的反义RNA与真(母)基因(parental)sense mRNA结
合减缓其翻译;(B-D) 假基因RNA产生Endo-siRNAs;(E)假基因RNA作为ceRNA调控靶基因;(F)假基因RNA通过RNA结合蛋白或者翻译机制调控RNA表达或者蛋白翻译。
Functions of pseudogenic protein.
假基因通过与真(母)基因蛋白互作或者作为抗原肽发挥功能。
由于假基因的英文单词为pseudogene,所以很多假基因的名字常常以真基因名+P(即pse
udogene)结尾,比如PTEN基因的假基因PTENP1(phosphatase and tensin homolog pseudogene 1),就有很多文章报道调控“母基因”PTEN的表达:
1.Pseudogene PTENP1 Suppresses Gastric Cancer Progression by Modulating PTEN.Anticancer Agents Med Chem. 2016;16(4):456-64.