What Are Pseudogenes?

Pseudogenes, also called pseudogenes, are non-functional residues formed by gene families during evolution. It is similar to the normal gene, but the DNA sequence that lost the normal function is often found in the multi-gene family of eukaryotes, which is usually expressed by . ^[1]

Most pseudogenes are normal on the chromosome

copy

That is, the gene changes after replication and loses function. The pseudogenes generated in this way have introns, which are called non-processed or duplicated pseudogenes.

Reverse seat

That is, the mRNA transcript is reverse transcribed into cDNA, and then inserted into the genome. It loses function due to inappropriate insertion sites or sequence changes. This type of pseudogene contains no introns and is called processedpseudogenes, or retropseudogene. ^[3]

Dr Hirotsune states: "These findings will help treat future human diseases. When mice are pseudogenes

fake gene

When the function is blocked, the disease is produced. Therefore, in theory, the abnormal function of the pseudogene may also be a factor that causes human disease. "In fact, this discovery happened randomly because the researchers made transgenic mice for another completely different experiment. They injected DNA into the fertilized eggs and randomly inserted the DNA into the mouse genome. Dr. Wynshaw-Boris said:" We expect that transgenic mice will show a direct response to the effects of the injected gene, so that we can learn the function of this gene. However, because the injected genes were randomly embedded in the mouse's original genome, the function of other genes in the mouse was accidentally interrupted, and the mouse appeared unexpected characteristics; we found a group of mice with unusual and serious symptoms. "Almost all of the mice in the group died, and the survivors developed severe kidney and bone disease, and passed on these defects to the next generation, so the researchers decided to further study this unexpected discovery. Dr. Wynshaw-Boris's study found the gene embedding site There are three genes, and two genes were excluded from further research. Therefore, the third gene, the pseudogene makorin1-p1, was identified as the main culprit for abnormalities in mice. Hirotsune said: "Since pseudogenes are not capable of producing proteins, , So we would like to know how this pseudogene causes disease in mice? "

The researchers also found that the pseudogene makorin1-p1 is a fragment gene similar to a complete protein gene called makorin1, which is located on another chromosome. There are a large number of expressed makorin1 proteins in the kidneys of normal mice, and when the pseudogene makorin1-p1 loses function, the performance of makorin1 protein is also relatively weakened and appears abnormal. Further research has found that makorin1-p1 plays a role in regulating the stability of makorin1 Very important role.