Functional characterization of human MutY homolog (hMYH) missense mutation (R231L) that is linked with hMYH-associated polyposis

被引：30

作者：

Bai, Haibo

Grist, Scott

Gardner, Justin

Suthers, Graeme

Wilson, Teresa M.

Lu, A-Lien ^{[1
]}

机构：

[1] Univ Maryland, Dept Biochem & Mol Biol, Baltimore, MD 21201 USA

[2] Flinders Med Ctr, Dept Haematol & Genet Pathol, Adelaide, SA 5042, Australia

[3] Flinders Univ S Australia, Adelaide, SA 5042, Australia

[4] Womens & Childrens Hosp, S Australian Familial Canc Serv, Adelaide, SA 5042, Australia

[5] Univ Maryland, Dept Radiat Oncol, Baltimore, MD 21201 USA

[6] Univ Maryland, Greenebaum Canc Ctr, Baltimore, MD 21201 USA

来源：

CANCER LETTERS | 2007年 / 250卷 / 01期

关键词：

DNA repair; MYH mutation; colorectal cancer; genome stability;

D O I：

10.1016/j.canlet.2006.09.016

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 [肿瘤学];

摘要：

The MutY homolog (MYH) can excise adenines misincorporated opposite to guanines or 7,8-dihydro-8-oxo-guanines (8-oxoG) during DNA replication; thereby preventing G:C to T:A transversions. Germline mutations in the human MYH gene are associated with recessive inheritance of colorectal adenomatous polyposis (MAP). Here, we characterize one newly identified MAP-associated MYH missense mutation (R231L) that lies adjacent to the putative hMSH6 binding domain. The R231L mutant protein has severe defects in A/GO binding and in adenine glycosylase activities. The mutant fails to complement mutY-deficiency in Escherichia coli, but does not affect binding to hMSH6. These data support the role of the hMYH pathway in carcinogenesis. (c) 2006 Elsevier Ireland Ltd. All rights reserved.

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收藏

页码：74 / 81

页数：8

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