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Brief Funct Genomics. 2013 Nov;12(6):536-47. doi: 10.1093/bfgp/elt026. Epub 2013 Jul 29.
Pseudogenes, the nonfunctional homologs of functional genes and thus exemplified as 'genomic fossils' provide intriguing snapshots of the evolutionary history of human genome. These defunct copies generally arise by retrotransposition or duplication followed by various genetic disablements. In this study, focusing on human pseudogenes and their functional homologues we describe their characteristic features and relevance to protein sequence evolution. We recapitulate that pseudogenes harbor disease-causing degenerative sequence variations in conjunction with the immense disease gene association of their progenitors. Furthermore, we also discuss the issue of functional resurrection and the potentiality observed in some pseudogenes to regulate their functional counterparts.
假基因是功能基因的非功能同源物，因此被称为“基因组化石”，为人类基因组的进化历史提供了有趣的快照。这些无功能的副本通常是通过逆转录转座或复制后发生各种遗传失活而产生的。在这项研究中，我们专注于人类假基因及其功能同源物，描述了它们的特征和与蛋白质序列进化的相关性。我们总结出假基因携带着与疾病相关的退行性序列变异，同时它们的前体与大量疾病基因相关联。此外，我们还讨论了功能复活的问题，以及一些假基因在调节其功能对应物方面所表现出的潜力。
