Scientists Identify Gene Complex That Regulates Ribosome Production

Ribosomes are cell organelles that appear in the cytoplasm of cells without any enclosure in a limiting membrane. They are important for the manufacture of proteins by cells. These tiny organelles play a very significant role within the cell, as proteins are needed by the body for almost every important process to take place. Because of the significant role they play, a slight change in their functional mechanism could lead to serious body disorders including cancer and ribosomopathies – a group of rare disorders occurring as a result of an abnormality in ribosome synthesis.



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The role of ribosomes in the cells cannot be overemphasized. Scientists have been trying to figure out how they are produced within the cell, as finding out how to regulate their production can help tackle disorders arising from their abnormal production. Recently, researchers at the UT Southwestern Medical Center have discovered a complex of four genes that play a key role in ribosomal generation.

The discovery process

Though experiments performed for this purpose (regulation of ribosomal production) using yeast cells revealed the little knowledge that is known about ribosome production, it still did not reveal enough information for the regulation of ribosomes in human cells.

To determine the rate of ribosome synthesis in different cells of the body, they developed a technique that caused old ribosomes to radiate red light, and new ones to radiate green light. Since the rate of ribosome synthesis varies from cell to cell, this technique helped them to determine the different rates of production in each cell.

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Next, using CRISPR – a tool used to edit gene activation within cells – the team started a trial and error method, inactivating genes one after the other within cells, to identify those genes that are connected to the manufacture of ribosomes in the cells. At the end of this procedure, they were able to identify four genes – CINP, SPATA5L1, C1orf109, and SPATA5 – that played a role in this process. Researching further, they found out that these genes combine to form a complex that removes the temporarily-placed protein from ribosomes when assembly time is almost approaching. This gives room for a different protein to occupy this position to aid the maturation of ribosomes.

In the past, the function of the SPATA5 gene in cells was unknown, but it was discovered that mutation in this gene led to neurodevelopmental disorders that include epilepsy, intellectual disability, hearing loss, and microcephaly. The researchers took two mutated versions of this gene and placed them into cells, leading to the creation of a mutated SPATA5 protein. Consequently, this reduced the cells’ ability to produce ribosomes, and the researchers concluded that this is linked to neurodevelopmental disorders.

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Clinical significance

Scientists’ ability to regulate ribosome synthesis within cells would aid the easy control and prevention of disorders that have their roots in the abnormal production of these organelles.


This study has made the regulation of ribosome production within cells possible, and this is important to prevent disorders that arise from the abnormal production of these highly-significant organelles.


Labeling of heterochronic ribosomes reveals C1ORF109 and SPATA5 control a late step in human ribosome assembly



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