Reviewed April 2008
What is the official name of the MUTYH gene?
The official name of this gene is “mutY homolog.”
MUTYH is the gene's official symbol. The MUTYH gene is also known by other names, listed below.
What is the normal function of the MUTYH gene?
The MUTYH gene provides instructions for making an enzyme called MYH glycosylase, which is involved in the repair of DNA. This enzyme corrects particular mistakes that are made when DNA is copied (DNA replication) in preparation for cell division. DNA is made up of building blocks called nucleotides, each of which has a specific partner. Normally, adenine pairs with thymine (written as A-T) and guanine pairs with cytosine (written as G-C). During normal cellular activities, guanine sometimes becomes altered by oxygen, which causes it to pair with adenine instead of cytosine. MYH glycosylase fixes this mistake so mutations do not accumulate in the DNA and lead to tumor formation. This type of repair is known as base excision repair.
How are changes in the MUTYH gene related to health conditions?
- familial adenomatous polyposis - caused by mutations in the MUTYH gene
Mutations in the MUTYH gene cause an autosomal recessive form of familial adenomatous polyposis (also called MYH-associated polyposis). Mutations in this gene affect the ability of cells to correct mistakes made during DNA replication. In individuals who have autosomal recessive familial adenomatous polyposis, both copies of the MUTYH gene in each cell are mutated. Most mutations in this gene result in the production of a nonfunctional or low-functioning MYH glycosylase. When base excision repair in the cell is impaired, mutations in other genes build up, leading to cell overgrowth and possibly tumor formation. Two mutations that change the sequence of the building blocks of proteins (amino acids) in MYH glycosylase are common in people of European descent. One mutation replaces the amino acid tyrosine with the amino acid cysteine at position 165 (written as Tyr165Cys or Y165C). The other mutation switches the amino acid glycine with the amino acid aspartic acid at position 382 (written as Gly382Asp or G382D).
Where is the MUTYH gene located?
Cytogenetic Location: 1p34.1
Molecular Location on chromosome 1: base pairs 45,329,241 to 45,340,469
The MUTYH gene is located on the short (p) arm of chromosome 1 at position 34.1.
More precisely, the MUTYH gene is located from base pair 45,329,241 to base pair 45,340,469 on chromosome 1.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about MUTYH?
You and your healthcare professional may find the following resources about MUTYH helpful.
Educational resources - Information pages
- American Medical Association and National Coalition for Health Professional Education in Genetics: Understand the Basics of Genetic Testing for Hereditary Colorectal Cancer (http://www.nchpeg.org/documents/crc/Basics%20of%20genetic%20testing.pdf)
- Genomes (second edition, 2002): Base excision repairs many types of damaged nucleotide (http://www.ncbi.nlm.nih.gov/books/NBK21114/)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK107219)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for MUTYH (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=4595%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- OMIM - Genetic disorder catalog (http://omim.org/entry/604933)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/MUTYHID41464ch1p34.html)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=4595)
- HGNC Gene Symbol Report (http://www.genenames.org/data/hgnc_data.php?hgnc_id=7527)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/4595)
What other names do people use for the MUTYH gene or gene products?
- mutY (E. coli) homolog
- mutY homolog (E. coli)
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding MUTYH?
amino acid ;
aspartic acid ;
autosomal recessive ;
base excision repair ;
cell division ;
DNA replication ;
E. coli ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Cheadle JP, Sampson JR. Exposing the MYtH about base excision repair and human inherited disease. Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R159-65. Epub 2003 Aug 5. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12915454?dopt=Abstract)
- Croitoru ME, Cleary SP, Di Nicola N, Manno M, Selander T, Aronson M, Redston M, Cotterchio M, Knight J, Gryfe R, Gallinger S. Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk. J Natl Cancer Inst. 2004 Nov 3;96(21):1631-4. (http://www.ncbi.nlm.nih.gov/pubmed/15523092?dopt=Abstract)
- 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. Epub 2005 May 3. (http://www.ncbi.nlm.nih.gov/pubmed/15931596?dopt=Abstract)
- Fleischmann C, Peto J, Cheadle J, Shah B, Sampson J, Houlston RS. Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer. Int J Cancer. 2004 Apr 20;109(4):554-8. (http://www.ncbi.nlm.nih.gov/pubmed/14991577?dopt=Abstract)
- Jones S, Emmerson P, Maynard J, Best JM, Jordan S, Williams GT, Sampson JR, Cheadle JP. Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations. Hum Mol Genet. 2002 Nov 1;11(23):2961-7. (http://www.ncbi.nlm.nih.gov/pubmed/12393807?dopt=Abstract)
- Jones S, Lambert S, Williams GT, Best JM, Sampson JR, Cheadle JP. Increased frequency of the k-ras G12C mutation in MYH polyposis colorectal adenomas. Br J Cancer. 2004 Apr 19;90(8):1591-3. (http://www.ncbi.nlm.nih.gov/pubmed/15083190?dopt=Abstract)
- Kambara T, Whitehall VL, Spring KJ, Barker MA, Arnold S, Wynter CV, Matsubara N, Tanaka N, Young JP, Leggett BA, Jass JR. Role of inherited defects of MYH in the development of sporadic colorectal cancer. Genes Chromosomes Cancer. 2004 May;40(1):1-9. (http://www.ncbi.nlm.nih.gov/pubmed/15034862?dopt=Abstract)
- Lipton L, Halford SE, Johnson V, Novelli MR, Jones A, Cummings C, Barclay E, Sieber O, Sadat A, Bisgaard ML, Hodgson SV, Aaltonen LA, Thomas HJ, Tomlinson IP. Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway. Cancer Res. 2003 Nov 15;63(22):7595-9. (http://www.ncbi.nlm.nih.gov/pubmed/14633673?dopt=Abstract)
- Lipton L, Tomlinson I. The multiple colorectal adenoma phenotype and MYH, a base excision repair gene. Clin Gastroenterol Hepatol. 2004 Aug;2(8):633-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15290654?dopt=Abstract)
- OMIM: MutY, E. COLI, HOMOLOG OF (http://omim.org/entry/604933)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/4595)
- Russell AM, Zhang J, Luz J, Hutter P, Chappuis PO, Berthod CR, Maillet P, Mueller H, Heinimann K. Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients. Int J Cancer. 2006 Apr 15;118(8):1937-40. (http://www.ncbi.nlm.nih.gov/pubmed/16287072?dopt=Abstract)
- Sampson JR, Dolwani S, Jones S, Eccles D, Ellis A, Evans DG, Frayling I, Jordan S, Maher ER, Mak T, Maynard J, Pigatto F, Shaw J, Cheadle JP. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet. 2003 Jul 5;362(9377):39-41. (http://www.ncbi.nlm.nih.gov/pubmed/12853198?dopt=Abstract)
- Sampson JR, Jones S, Dolwani S, Cheadle JP. MutYH (MYH) and colorectal cancer. Biochem Soc Trans. 2005 Aug;33(Pt 4):679-83. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16042573?dopt=Abstract)
- Sieber OM, Lipton L, Crabtree M, Heinimann K, Fidalgo P, Phillips RK, Bisgaard ML, Orntoft TF, Aaltonen LA, Hodgson SV, Thomas HJ, Tomlinson IP. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med. 2003 Feb 27;348(9):791-9. (http://www.ncbi.nlm.nih.gov/pubmed/12606733?dopt=Abstract)
- Venesio T, Molatore S, Cattaneo F, Arrigoni A, Risio M, Ranzani GN. High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis. Gastroenterology. 2004 Jun;126(7):1681-5. (http://www.ncbi.nlm.nih.gov/pubmed/15188161?dopt=Abstract)
- Wang L, Baudhuin LM, Boardman LA, Steenblock KJ, Petersen GM, Halling KC, French AJ, Johnson RA, Burgart LJ, Rabe K, Lindor NM, Thibodeau SN. MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. Gastroenterology. 2004 Jul;127(1):9-16. Erratum in: Gastroenterology. 2004 Nov;127(5):1651. (http://www.ncbi.nlm.nih.gov/pubmed/15236166?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.