DNA polymerase nu

File:Ideogram human chromosome 4.svg

Ideogram human chromosome 4

DNA polymerase nu (POLN) is an enzyme that in humans is encoded by the POLN gene. This enzyme is a member of the DNA polymerase family, which plays a crucial role in the process of DNA replication and DNA repair.

Function

DNA polymerase nu is involved in the DNA repair process, particularly in the translesion synthesis pathway. This pathway allows the DNA replication machinery to bypass lesions or damages in the DNA template, which can otherwise stall the replication fork. POLN is known for its ability to replicate over certain types of DNA damage, contributing to the maintenance of genomic stability.

Structure

The structure of DNA polymerase nu includes several conserved domains typical of the DNA polymerase family. These domains are essential for its catalytic activity and its ability to interact with other proteins involved in the DNA repair process.

Gene

The POLN gene is located on chromosome 4 in humans. It is expressed in various tissues, with higher expression levels observed in the testis and ovary, suggesting a potential role in gametogenesis.

Clinical Significance

Mutations in the POLN gene can lead to defects in the DNA repair process, which may contribute to the development of certain cancers and other diseases associated with genomic instability. Research is ongoing to understand the full spectrum of diseases linked to POLN dysfunction.

Related Enzymes

DNA polymerase nu is one of several specialized DNA polymerases involved in translesion synthesis. Other related enzymes include DNA polymerase eta, DNA polymerase iota, and DNA polymerase kappa, each with unique substrate specificities and roles in DNA repair.

See Also

• DNA polymerase
• DNA replication
• DNA repair
• Translesion synthesis
• Genomic stability
• Chromosome 4

External Links

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