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Details on Person MUTYH alpha-3 isoform (MUTYH-3) mutants MUTYH-3 Y165C and MU...

Class:IdSummation:9608296
_displayNameMUTYH alpha-3 isoform (MUTYH-3) mutants MUTYH-3 Y165C and MU...
_timestamp2023-03-22 23:04:22
created[InstanceEdit:9608297] Orlic-Milacic, Marija, 2018-05-11
modified[InstanceEdit:9608304] Orlic-Milacic, Marija, 2018-05-11
[InstanceEdit:9608347] Orlic-Milacic, Marija, 2018-05-14
[InstanceEdit:9608350] Orlic-Milacic, Marija, 2018-05-14
[InstanceEdit:9831616] Orlic-Milacic, Marija, 2023-03-22
[InstanceEdit:9831620] Orlic-Milacic, Marija, 2023-03-22
textMUTYH alpha-3 isoform (MUTYH-3) mutants MUTYH-3 Y165C and MUTYH-3 G382D show reduced binding to adenine mispaired with 8-oxoguanine (OGUA:Ade, also known as 8-oxoG:A) (Chmiel et al. 2003, Parker et al. 2005, Ali et al. 2008, Molatore et al. 2010, D'Agostino et al. 2010). MUTYH-3 Y165C and MUTYH-3 G382D are the two most common MUTYH mutations in patients of European origin affected by MUTYH-associated polyposis (MAP), also known as familial adenomatous polyposis 2 (FAP2) (Sieber et al. 2003, Sampson et al. 2003).

MUTYH mutant MUTYH-3 R227W is unable to bind the OGUA:Ade substrate, while the MUTYH-3 V232F mutant shows severely reduced binding. Mutation R231L lies in the same region and MUTYH-3 R231L mutants also show impaired binding to OGUA:Ade. MUTYH-3 R231H mutant, defective in DNA binding, was reported in both adenomatous polyposis (Ali et al. 2008) and lung squamous cell carcinoma.

Mutants MUTYH-3 R260Q and MUTYH-3 P281L show impaired DNA binding, with MUTYH-3 P281L being more severely affected (Ali et al. 2008). In addition to adenomatous polyposis, MUTYH-3 R260Q was reported in stomach cancer and primary sclerosing cholangitis, a risk factor for development of cholangiocarcinoma (Forsbring et al. 2009).

Frameshift mutations in MUTYH, which result in MUTYH protein truncation, also occur in MAP patients. The nonsense mutants MUTYH-3 Y90*, MUTYH-3 Q377* and MUTYH-3 E466*, and frameshift MUTYH-3 A368fs26* (commonly known as MUTYH 1103delC) are not able to bind target DNA (Ali et al. 2008).
(summation)[FailedReaction:9608288] Defective MUTYH mutants do not bind adenine mispaired with 8-oxoguanine [Homo sapiens]
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