[From gene to disease; MutYH-associated polyposis coli (MAP)].
MutYH-associated polyposis coli (MAP) is an autosomal recessive inherited form of polyposis and colorectal carcinoma associated with germline mutations in the MutYH gene on chromosome I. The MutYH protein is a base excision repair glycosylase which is involved in the repair of damage caused by the oxidation ofa guanine leading to 8-oxo-7,8-dihydroguanine. If the MutYH protein is dysfunctional, G:C --> T:A mutations in the APC-gene give rise to polyposis and in 50-60% of cases also colorectal carcinoma. MutYH polyposis differs from familial adenomatous polyposis coli in its mode of transmission, later age of onset, a less florid form of polyposis, and fewer extra colonic manifestations.
Nielsen
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Centrum voor Humane en Klinische Genetica, Leids Universitair Medisch Centrum, Postbus 9600, 2300 RC Leiden.
Weiss
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Vasen
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D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1; D015179:Colorectal Neoplasms / Q000235:genetics*; D004249:DNA Damage; D045647:DNA Glycosylases / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans
D045647:DNA Glycosylases; C061738:mutY adenine glycosylase