MUTYH


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MUTYH

An excision repair enzyme involved in repairing one of the most frequent and stable forms of nucleotide damage, 8-oxo-7,8-dihydro-2’-deoxyguanosine, which readily misrepairs with adenosine. This misrepair leads to a G:C to T:A transversion mutation. MUTYH excises the misincoporated adenine and suppresses mutations caused by reactive oxygen species. It can also can excise 2-hydroxyadenine, which is generated by oxidation of dATP in the nucleotide pool and incorporated opposite guanine in a different template.
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The DNA samples were subjected to allele-specific matrix-assisted laser desorption/ionization-time-of-flight (MALDI-TOF) mass spectrometry and MassARRAY (Sequenom, San Diego, CA, USA) analyses for the XRCC1 G28152A, MUTYH G972C, HOGG1 C1245G , and PARP1 T2444C gene polymorphisms.
Castillejo et al., "Prevalence of germline MUTYH mutations among Lynch-like syndrome patients," European Journal of Cancer, vol.
The reference numbers for MUTYH, MPG, NEIL1, OGG1, SMUG1, TDG, UNG2, and NTHL1 proteins are NP_001041639.1, NP_002425.2, NP_078884.2, NP_002533.1, NP_001230716.1, NP_003202.
Multiplex tetra-primer amplification refractory mutation system PCR to detect 6 common germline mutations of the MUTYH gene associated with polyposis and colorectal cancer.
Until 2002, a second gene, MUTYH, has been found in patients that present similar phenotypes, particularly to AFAP, in which no APC gene mutation was identified [2, 3].
Significantly increased risk of lung cancer has been reported in rare genetic syndromes, including an autosomal recessive MUTYH mutation in an adolescent with multifocal lung AIS.
In some cases, AFAP is associated with biallelic germline mutations in the base-excision repair gene MUTYH [(or MYH) mutt homolog (Escherichia coli)] showing an autosomal recessive pattern (5).
Tao et al., "Impaired 8-hydroxyguanine repair activity of MUTYH variant p.Arg109Trp found in a Japanese patient with early-onset colorectal cancer" Oxidative Medicine and Cellular Longevity, vol.
The method of the DNA amplifying is achieved by the PCR into 32 separate segments using primers for the entire coding region of the APC gene and exons 7 and 13 of MUTYH (which harbor the two common MUTYH mutations G382D and Y165C) [60, 61].
A very small percentage of chromosomal instability tumors are inherited and arise secondary to germline mutations in the APC gene (familial adenomatous polyposis; less than 1% of CRCs) or the MUTYH gene (MUTYH-associated polyposis; <1% of CRCs).
Multiplex tetraprimer amplification refractory mutation system PCR to detect 6 common germline mutations of the MUTYH gene associated with polyposis and colorectal cancer.
To prevent such mutations in human cells, MUTYH (MIM #604933) and OGG1 (MIM #601982) proteins are involved in DNA glycosylase-initiating base excision repair, which is a component of the human DNA repair system [3-8].