MutY Homolog (MUTYH)

MYH; A/G-specific adenine DNA glycosylase

SPN	O020
HGNC	7527
MGI	1917853
PubMed	11092888
RGD	620045
UniProt	Q9UIF7
Wiki	MUTYH

MUTYH 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.

Mutations in the MUTYH gene cause an autosomal recessive form of familial adenomatous polyposis. Polyps caused by mutated MYH do not appear until adulthood and are less numerous than those found in patients with APC gene mutations.

Reference

"Cloning and sequencing a human homolog (hMYH) of the Escherichia coli mutY gene whose function is required for the repair of oxidative DNA damage."
J. Bacteriol. 178:3885-3892(1996) [PubMed] [Europe PMC] [Abstract]

"Identification of human MutY homolog (hMYH) as a repair enzyme for 2-hydroxyadenine in DNA and detection of multiple forms of hMYH located in nuclei and mitochondria."
Nucleic Acids Res. 28:1355-1364(2000) [PubMed] [Europe PMC] [Abstract]

"Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing."
Nucleic Acids Res. 39:44-58(2011) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and biological annotation of human chromosome 1."
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Solution structure of the NUDIX domain from human A/G-specific adenine DNA glycosylase alpha-3 splice isoform."
Submitted (NOV-2005) to the PDB data bank

"Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors."
Nat. Genet. 30:227-232(2002) [PubMed] [Europe PMC] [Abstract]

"Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH."
Lancet 362:39-41(2003) [PubMed] [Europe PMC] [Abstract]

"Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH."
N. Engl. J. Med. 348:791-799(2003) [PubMed] [Europe PMC] [Abstract]

"Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas."
Hum. Mutat. 24:353-354(2004) [PubMed] [Europe PMC] [Abstract]

"Genetic alterations of the MYH gene in gastric cancer."
Oncogene 23:6820-6822(2004) [PubMed] [Europe PMC] [Abstract]

"Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis."
Genet. Med. 9:836-841(2007) [PubMed] [Europe PMC] [Abstract]

"MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay."
Hum. Mutat. 31:159-166(2010) [PubMed] [Europe PMC] [Abstract]