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Pseudogenes as Functionally Significant Elements of the Genome

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Abstract

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.

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Abbreviations

asRNA:

antisense RNA

ceRNA:

competing endogenous RNA

eRNA:

enhancer RNA

HMGA1 :

genes of high-mobility group A1

lncRNA:

long non-coding RNA

MAPK:

mitogen-activated protein kinase

miRNA:

microRNA

MRE:

miRNA response elements

mtDNA:

mitochondrial DNA

NGS:

next generation sequencing

NUMT:

nuclear mitochondrial (pseudogenes)

ORF:

open reading frame

piRNA:

small RNA that interacts with PIWI proteins

psRNA:

RNA of transcribed pseudogenes

RNAi:

RNA interference

siRNA:

small interfering RNA

sRNA:

sense RNA

UTR:

untranslated region

ψV:

pseudogene of variable domains of immunoglobulins

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

    T. F. Kovalenko & L. I. Patrushev

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Original Russian Text © T. F. Kovalenko, L. I. Patrushev, 2018, published in Biokhimiya, 2018, Vol. 83, No. 11, pp. 1643–1662.

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Kovalenko, T.F., Patrushev, L.I. Pseudogenes as Functionally Significant Elements of the Genome. Biochemistry Moscow 83, 1332–1349 (2018). https://doi.org/10.1134/S0006297918110044

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