Biochemistry, Pseudogenes

Book
In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan.
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Excerpt

Pseudogenes are universal and plentiful within genomes. They originate from the decay of duplicated genes throughout evolution and resemble functional genes but contain deficiencies within the coding sequence such as stop codons, frameshifts, deletions, etc. These deficiencies may have been acquired during duplication and as a result, may result in a loss of gene function. While it may seem disadvantageous to retain pseudogenes riddled with mutations and stop codons, research has shown that some pseudogenes have beneficial roles. Some pseudogenes have since obtained recognition as having vital roles in the regulation of their parent genes, and many still transcribe into RNA transcripts. These transcripts may form small interfering RNA (siRNA) or even decrease microRNA concentrations (miRNA). Although the exact number of pseudogenes is unknown, extrapolations have approximated around twenty thousand pseudogenes within the human genome. Historically, pseudogenes were synonymous with nonfunctional artifacts as they occur within noncoding regions of the human genome.

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  • Study Guide