Pseudogenizáció

Pseudogenizáció is a biological process where a functional gene is inactivated and evolves into a pseudogene. Pseudogenes are DNA sequences that are similar to known genes but have lost their biological function due to mutations. These mutations can include deletions, insertions, or point mutations that disrupt the gene's coding sequence, its regulatory elements, or its ability to be transcribed into RNA.

There are several mechanisms that can lead to pseudogenization. Duplication is a common starting point, where a gene is accidentally copied. One copy can then accumulate mutations without detriment to the organism, as the other copy still performs the essential function. Over time, these mutations can render the duplicated copy non-functional. Retrotransposition is another mechanism, where a messenger RNA (mRNA) molecule is reverse-transcribed back into DNA and inserted into the genome. If this inserted DNA lacks proper regulatory sequences or contains disruptive mutations, it becomes a pseudogene.

Pseudogenes were once thought to be "junk DNA," evolutionary remnants with no purpose. However, recent research suggests that some pseudogenes may play regulatory roles in gene expression, influencing the activity of their parent genes or other genes in the genome. This emerging understanding highlights the dynamic nature of genomes and the potential for non-coding sequences to acquire new functions over evolutionary time. The study of pseudogenization is important for understanding genome evolution, gene regulation, and the development of genetic diseases.