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Normal Function
The MUTYH gene provides instructions for making an enzyme called adenine DNA glycosylase, which is involved in the repair of DNA. This enzyme corrects some of the errors that are made when DNA is copied (DNA replication) in preparation for cell division.
The building blocks of DNA are made up of four chemical bases: adenine, thymine, guanine, and cytosine. Each of these bases pairs with a specific partner to form a unit called a base pair. Normally, adenine pairs with thymine (written as A-T) and guanine pairs with cytosine (written as G-C). However, guanine can be altered by a chemical reaction called oxidation, which causes it to pair with adenine instead of cytosine. The adenine DNA glycosylase enzyme is part of the repair process that finds and fixes these errors. Once the altered guanine is fixed, adenine DNA glycosylase will remove the mismatched adenine. This process is known as base excision repair.
Health Conditions Related to Genetic Changes
MUTYH-associated polyposis
Variants (also called mutations) in the MUTYH gene cause a condition called MUTYH-associated polyposis (MAP). MAP is an inherited disorder that is characterized by a greatly increased risk of cancer of the large intestine (colon) and rectum (collectively known as colorectal cancer). This condition also increases the risk of other types of cancer.
In individuals with MAP, both copies of the MUTYH gene in all of the body's cells are altered. Most variants in this gene cause cells to produce a version of the adenine DNA glycosylase enzyme that does not function well or at all. These MUTYH gene variants affect the ability of cells to perform base excision repair.
When guanine is altered by oxidation so that it pairs with adenine, this results in an alteration in DNA that is known as a transversion. When base excision repair is impaired, the errors are not fixed but instead build up in a person's DNA as cells divide. If these errors occur in genes that control cell growth, cells can grow uncontrollably, which can lead to colorectal cancer and other types of cancer.
More About This Health ConditionOther Names for This Gene
- hMYH
- mutY homolog
- MUTYH_HUMAN
- MYH
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Farrington SM, Tenesa A, Barnetson R, Wiltshire A, Prendergast J, Porteous M, Campbell H, Dunlop MG. Germline susceptibility to colorectal cancer due to base-excision repair gene defects. Am J Hum Genet. 2005 Jul;77(1):112-9. doi: 10.1086/431213. Epub 2005 May 3. Citation on PubMed or Free article on PubMed Central
- Magrin L, Fanale D, Brando C, Corsini LR, Randazzo U, Di Piazza M, Gurrera V, Pedone E, Bazan Russo TD, Vieni S, Pantuso G, Russo A, Bazan V. MUTYH-associated tumor syndrome: The other face of MAP. Oncogene. 2022 Apr;41(18):2531-2539. doi: 10.1038/s41388-022-02304-y. Epub 2022 Apr 14. Citation on PubMed
- Nielsen M, Infante E, Brand R. MUTYH Polyposis. 2012 Oct 4 [updated 2021 May 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from http://www.ncbi.nlm.nih.gov/books/NBK107219/ Citation on PubMed
- Zaffaroni G, Mannucci A, Koskenvuo L, de Lacy B, Maffioli A, Bisseling T, Half E, Cavestro GM, Valle L, Ryan N, Aretz S, Brown K, Buttitta F, Carneiro F, Claber O, Blanco-Colino R, Collard M, Crosbie E, Cunha M, Doulias T, Fleming C, Heinrich H, Huneburg R, Metras J, Nagtegaal I, Negoi I, Nielsen M, Pellino G, Ricciardiello L, Sagir A, Sanchez-Guillen L, Seppala TT, Siersema P, Striebeck B, Sampson JR, Latchford A, Parc Y, Burn J, Moslein G. Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision. Br J Surg. 2024 May 3;111(5):znae070. doi: 10.1093/bjs/znae070. Citation on PubMed
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