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Pseudogenes are non-functional sections of DNA that resemble genes but cannot transcribe. They can result from mutations or retrotransposition and provide valuable information about evolutionary relationships. Pseudogene activation can occur in cancer, making it of interest for cancer treatment and prevention.
Pseudogenes are sections of DNA that look like genes, but don’t behave like genes, because they can’t transcribe. Transcription is the first step in gene expression and if a segment of DNA is unable to perform transcription, it is non-functional. Because pseudogenes are nonfunctional, some people lump them with so-called “junk DNA” that performs no function, but because they possess certain traits associated with genes, they are of great scientific interest. Just because they don’t work, in other words, doesn’t mean they have nothing to say.
Several processes can lead to the formation of a pseudogene. Sometimes, a mutation causes a gene to go inactive, damaging the DNA so that it can no longer transcribe, and the mutation can be passed on and amplified in certain populations. These pseudogenes are known as “disabled”. If enough populations have the mutation, eventually the gene will stop expressing itself in that population altogether, causing a particular genetic trait to disappear.
Pseudogenes, the result of mRNA retrotransposing itself into DNA and then inserting into DNA, can also be processed. The segment of DNA will not be functional, but it may look like a complete gene. Raw pseudogenes occur when genes replicate and one of the replicas becomes non-functional due to a mutation. Over generations, the DNA will gradually break down even further, eventually turning into true junk DNA.
The main reason pseudogenes are interesting is because they can reflect evolutionary changes and reveal information about the relationships between various organisms. For example, two species of big cats can be traced back to common ancestors with the use of pseudogenes, with researchers looking for similar lengths of genetic material to determine when the species began to separate. Pseudogenes can also be used to swap an organism’s evolutionary history, with researchers looking for dormant genes that code for traits that no longer appear. Pseudogenes could be likened to information encoded in the facade of the film; it’s not seen in the finished image, but it provides valuable information for those who know where to look.
By definition, this genetic material is non-functional. However, pseudogene activation is known to occur, most commonly in malignancies where something triggers the defunct gene to activate. The researchers noted that pseudogenes are sometimes involved in the development of some types of cancer, making the activation process interesting for people working in cancer treatment and prevention.
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