alexa Role of Base Excision Repair Enzyme MUTYH in the Repair of 8-Hydroxyguanine and MUTYH-Associated Polyposis (MAP)
ISSN: 2161-1041

Hereditary Genetics: Current Research
Open Access

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Review Article

Role of Base Excision Repair Enzyme MUTYH in the Repair of 8-Hydroxyguanine and MUTYH-Associated Polyposis (MAP)

Kazuya Shinmura*, Masanori Goto, Hong Tao and Haruhiko Sugimura

Department of Tumor Pathology, Hamamatsu University School of Medicine, Hamamatsu, Japan

*Corresponding Author:
K Shinmura
Department of Tumor Pathology
Hamamatsu University School of Medicine
1-20-1 Handayama, Higashi Ward
Hamamatsu, Shizuoka 431-3192, Japan
Tel: +81-53-435-2220
Fax: +81-53-435-2225
E-mail: [email protected]

Received date: January 30, 2012; Accepted date: June 06, 2012; Published June 12, 2012

Citation: Shinmura K, Goto M, Tao H, Sugimura H (2012) Role of Base Excision Repair Enzyme MUTYH in the Repair of 8-Hydroxyguanine and MUTYH-Associated Polyposis (MAP). Hereditary Genet 1:111 doi: 10.4172/2161-1041.1000111

Copyright: © 2012 Shinmura K, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

Abstract
8-Hydroxyguanine (8OHG) is an oxidized form of guanine, and the formation of 8OHG in DNA causes a G:C to T:A transversion mutation, since 8OHG can pair with adenine as well as cytosine. The base excision repair gene MUTYH encodes a DNA glycosylase for adenine mispaired with 8OHG and is thus involved in the prevention of mutations caused by 8OHG. Biallelic mutations of the MUTYH gene are responsible for MUTYH-associated polyposis (MAP), which is a hereditary disease and is characterized by a predisposition to multiple colorectal adenomas and carcinomas. This article reviews the repair function of MUTYH towards 8OHG, the functional characterization of MUTYH variants, the characteristics of MAP tumors, and the management of MAP patients.

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