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qPCR analysis of cDNA from the cerebella of affected and unaffected horses suggested that MUTYH expression is down-regulated in affected horses.
The IVS10-2A>G MUTYH heterozygote variant might add to the risk of developing germline APC (show APC Proteins) mutation negative colorectal adenomatous polyposis in Japanese patients.
MutY homolog Y165C and G382D mutations are not associated with cholangiocarinoma.
the age at onset of polyposis was significantly delayed for biallelic MUTYH mutation carriers as compared to patients with an APC (show APC Proteins) mutation
A mutation in both a MUTYH and either a MLH1 (show MLH1 Proteins), MSH2 (show MSH2 Proteins) and PMS2 (show PMS2 Proteins) gene mutation is associated with colorectal cancer.
Expression of APC (show APC Proteins) is decreased in mutation negative cases and this appears to be a promising indicator of FAP predisposition, while for MUTYH gene, mutation is associated to reduced mRNA expression.
MUTYH mutations are prevalent among Jews of North-African origin with colorectal adenomas.Increased risk for colorectal adenomas and cancer in mono-allelic MUTYH mutation carriers among among Jews of North-African origin.
We demonstrated that the rs3219463 and rs3219476 polymorphisms in RA patients from a Taiwan Chinese population were associated with disease susceptibility. These data indicate that the MUTYH gene may play a role in the progression of RA.
47 MUTYH gene variants (site-directed mutagenesis) were generated, the proteins expressed in MutY-disrupted E. coli, and assessed their abilities to complement the functional deficiency in the E. coli by monitoring spontaneous mutation rates.
The results of this study suggested that the MUTYH gene polymorphisms may play an important role in the etiology of Alzheimer's Disease.
adenine glycosylase activity, mismatch recognition properties and interaction with protein partners of MUTYH and 5 MAP variants were examined; P502L and R520Q had reduced affinity for PCNA (show PCNA Proteins); only Q324H was found to have reduced affinity for Hus1 (show HUS1 Proteins)
Ogg1 (show OGG1 Proteins) and Mutyh regulate hippocampal gene expression related to cognition and behavior, suggesting a role for the glycosylases in regulating adaptive behavior.
MUTYH loss is associated with an increase in inflammation associated colorectal cancer risk, which involves immunosuppression and altered inflammatory response.
Results show that MYH is a vital DNA repair enzyme (show LIG4 Proteins) that protects cells from oxidative DNA damage and is critical for a proper cellular response to DNA damage.
a 5-methylcytosine glycosylase activity for the murine DNA base excision repair enzyme Myh is described and shown that it is critically involved in remodeling the IL-2 (show IL2 Proteins) Promoter for transcription.
Data indicate that maternal folate depletion during pregnancy and high-fat feeding from weaning altered gene expression of Ogg1 (show OGG1 Proteins), Neil1 (show NEIL1 Proteins), Mutyh and Xrcc1 (show XRCC1 Proteins) in the brain of adult offspring.
The action of MUTYH, which initiates excision repair of adenine opposite 8-oxoG, triggers neurodegeneration in mice.
OGG1 (show OGG1 Proteins) and MYH appear to be dispensable for antimutator function in mitochondria.
Mutyh plays a major role in maintaining intestinal integrity by affecting the inflammatory response.
Aim of this study was to characterize the biological effects, in a mammalian cell background, of human MUTYH mutations identified in MUTYH-associated polyposis patients
Replication-associated repair of adenine:8-oxoguanine mispairs by MYH
This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. Mutations in this gene result in heritable predisposition to colon and stomach cancer. Multiple transcript variants encoding different isoforms have been found for this gene.
mutY homolog (E. coli)
, A/G-specific adenine DNA glycosylase
, A/G-specific adenine DNA glycosylase-like
, mutY homolog
, adenine-DNA glycosylase
, mutY homolog alpha
, the full-length form type A, 5' region