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REVIEW: Pseudogenes as Functionally Significant Elements of the Genome

T. F. Kovalenko1,a* and L. I. Patrushev1

1Shemyakin–Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Sciences, 117997 Moscow, Russia

* To whom correspondence should be addressed.

Received May 17, 2018; Revision received July 9, 2018
Pseudogene is a gene copy that has lost its original function. For a long time, pseudogenes have been considered as “junk DNA” that inevitably arises as a result of ongoing evolutionary process. However, experimental data obtained during recent years indicate this understanding of the nature of pseudogenes is not entirely correct, and many pseudogenes perform important genetic functions. In the review, we have addressed classification of pseudogenes, methods of their detection in the genome, and the problem of their evolutionary conservatism and prevalence among species belonging to different taxonomic groups in the light of modern data. The mechanisms of gene expression regulation by pseudogenes and the role of pseudogenes in pathogenesis of various human diseases are discussed.
KEY WORDS: pseudogene, pseudogene transcription, ceRNA, lncRNA, miRNA

DOI: 10.1134/S0006297918110044