PNAS
PMS1 (Postmeiotic Segregation Increased 1) is a human gene that encodes a protein involved in the DNA mismatch repair (MMR) system. This system is crucial for maintaining genomic stability by correcting errors that occur during DNA replication. The PMS1 protein is part of the MutL homolog family, which plays a significant role in the repair of mismatches that escape the proofreading activity of DNA polymerases.
Function[edit | edit source]
The PMS1 protein forms a heterodimer with MLH1, another key protein in the mismatch repair pathway. This complex is essential for the repair of base-base mismatches and insertion-deletion loops that arise during DNA replication and recombination. The PMS1-MLH1 complex interacts with other proteins in the MMR pathway, such as MSH2 and MSH6, to identify and repair mismatches.
Clinical Significance[edit | edit source]
Mutations in the PMS1 gene have been associated with an increased risk of certain types of cancer, particularly hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome. Lynch syndrome is characterized by a predisposition to colorectal cancer and other cancers, including endometrial, ovarian, and gastric cancers. Although PMS1 mutations are less common than mutations in other MMR genes like MLH1 and MSH2, they still contribute to the genetic heterogeneity of Lynch syndrome.
Genetic Variants[edit | edit source]
Several variants of the PMS1 gene have been identified, some of which are considered pathogenic. These variants can lead to a loss of function of the PMS1 protein, impairing the MMR system and increasing the likelihood of accumulating mutations that can lead to cancer.
Research and Studies[edit | edit source]
Ongoing research is focused on understanding the specific role of PMS1 in the MMR pathway and its interactions with other proteins. Studies are also investigating the prevalence of PMS1 mutations in different populations and their contribution to cancer risk. Genetic testing for PMS1 mutations is available and can be part of a comprehensive assessment for Lynch syndrome.
Also see[edit | edit source]
| Excision repair | |
|---|---|
| Other forms of repair | |
| Other/ungrouped proteins | |
| Regulation | |
| Other/ungrouped | |
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