The reading of the genetic code written in the intracellular DNA is controlled by a mechanism called "transcription" from lower animals to higher animals such as mammals.The genetic code is only a few kilobases * in lower animals, but some mammalian nerve cells exceed 1000 kilobases.How the genetic code of such a giant gene is read out remains a mystery.Furthermore, in recent years, abnormalities have been found in the reading of the genetic code of giant genes in intractable neurological diseases such as amyotrophic lateral sclerosis (ALS) and autism, and psychiatric disorders, and elucidation of these control mechanisms has been awaited. ..

　Therefore, the group focused on the function of the RNA-binding protein "Sfpq" identified as the causative gene of ALS and autism. When Sfpq-damaged mice were created and their functions were investigated, it was found that when Sfpq disappeared, important molecules responsible for nerve development could not be expressed, causing nerve cell death during the formation of the brain.We also found that Sfpq is an important component that controls the reading of the genetic code of large genetic children.

　In the future, it is expected that the elucidation of the entire mechanism of reading out the genetic code of giant genes will lead to the elucidation of the etiology of intractable neurological diseases and psychiatric disorders of unknown cause and the development of therapeutic methods.

* Kilobase ︓ A unit that expresses the length of the genetic code (genetic child).One base pair that constitutes a genetic child is referred to as one base, and a combination of 1000 base pairs is called a kilobase.

Paper information:[Cell Reports] Loss of Sfpq Causes Long-Gene Transcriptopathy in the Brain