PMS2

The PMS2 gene makes a protein that plays an essential role in repairing DNA. This protein helps fix mistakes that are made when DNA is copied (replicated) in preparation for cell division. The PMS2 protein uses the energy molecule adenosine triphosphate (ATP) as it performs its work. The PMS2 protein becomes active in the presence of ATP when it is paired with the protein made by the MLH1 gene. This active protein complex coordinates the binding of other proteins that repair mistakes made during DNA replication. Repairs are made by removing the section of the DNA that contains the mistakes and replacing it with a correctly matched DNA sequence. The PMS2 gene is a member of a set of genes known as the mismatch repair (MMR) genes.

The following genes are involved in the DNA mismatch repair (MMR) pathway and repair DNA that is not correctly copied before cell division.

• MLH1:mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
• MSH2:mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
• MSH6:mutS homolog 6 (E. coli)
• PMS2:PMS2 postmeiotic segregation increased 2 (S. cerevisiae)

hereditary nonpolyposis colorectal cancer - increased risk from variations of the PMS2 gene

Mutations in the PMS2 gene have been reported in about 5 percent of hereditary nonpolyposis colorectal cancer families that have an identified mutation. PMS2 mutations cause the production of an abnormally short or inactivated PMS2 protein that cannot efficiently repair mistakes made during DNA replication. Errors in DNA accumulate if cells continue to divide, leading to uncontrolled cell growth and the formation of a cancerous tumor in the colon or rectum.

People with mutations in this gene have an increased chance of developing Turcot syndrome, which is characterized by an association of malignant brain tumors with colorectal cancer.

7p22.2

The PMS2 gene is located on the short (p) arm of chromosome 7 at position 22.2.

See How do geneticists indicate the location of a gene? in the Handbook.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

• PubMed - Recent literature
• OMIM - Genetic disorder catalog
• Research Resources - Tools for researchers (3 links)

See How are genetic conditions and genes named? in the Handbook.

The Handbook provides basic information about genetics in clear language.

• What is DNA?
• What is a gene?
• How does a gene make a protein?
• How can gene mutations cause disorders?

These links provide additional genetics resources that may be useful.

• Genetics education
• Human Genome Project
• Resources for Genetic Researchers

adenosine triphosphate ; ATP ; cancer ; cell division ; colon ; colorectal ; DNA ; DNA replication ; gene ; homologs ; molecule ; mutation ; protein ; rectum ; segregation ; tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.