DDX42

DDX42

The DDX42 gene is located on chromosome 17.

DDX42 is a gene that is located on chromosome 17 in humans. It belongs to the DEAD-box RNA helicase family, which is a group of proteins involved in various aspects of RNA metabolism. DDX42 plays a crucial role in RNA splicing, a process that removes non-coding regions (introns) from pre-mRNA molecules to generate mature mRNA.

Structure and Function

The DDX42 gene spans approximately 20 kilobases and consists of 15 exons. The encoded protein, DDX42, is composed of 1,014 amino acids. It contains several conserved domains, including the DEAD-box helicase domain, which is responsible for its RNA unwinding activity.

DDX42 functions as an ATP-dependent RNA helicase, meaning it uses energy from ATP hydrolysis to unwind RNA molecules. This activity is essential for the proper splicing of pre-mRNA. DDX42 interacts with other splicing factors and components of the spliceosome, a large complex responsible for the splicing process.

Role in RNA Splicing

RNA splicing is a crucial step in gene expression regulation. It ensures that only the coding regions (exons) are retained in the mature mRNA, which is then translated into proteins. DDX42 is involved in the recognition and removal of introns during splicing.

Studies have shown that DDX42 interacts with the U2 small nuclear ribonucleoprotein (snRNP), a component of the spliceosome. This interaction is important for the proper assembly of the spliceosome and the recognition of intron-exon boundaries. DDX42 also facilitates the unwinding of RNA secondary structures, allowing the spliceosome to access the intron and remove it.

Clinical Significance

Mutations in the DDX42 gene have been associated with various diseases and disorders. For example, a study identified a missense mutation in DDX42 in a patient with neurodevelopmental delay and intellectual disability. This suggests that DDX42 plays a role in normal brain development and function.

Furthermore, alterations in RNA splicing have been implicated in several diseases, including cancer. Dysregulation of splicing factors, such as DDX42, can lead to aberrant splicing patterns and contribute to disease progression. Therefore, understanding the role of DDX42 in splicing may have implications for the development of targeted therapies.

See Also

• RNA splicing
• DEAD-box RNA helicase family
• Chromosome 17