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Type: Journal article
Title: Functional characterization of human MutY homolog (hMYH) missense mutation (R231L) that is linked with hMYH-associated polyposis
Author: Bai, H.
Grist, S.
Gardner, J.
Suthers, G.
Wilson, T.
Lu, A.
Citation: Cancer Letters, 2007; 250(1):74-81
Publisher: Elsevier Science Ireland
Issue Date: 2007
ISSN: 0304-3835
Statement of
Haibo Bai, Scott Grist, Justin Gardner, Graeme Suthers, Teresa M. Wilson and A-Lien Lu
Abstract: 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.
Keywords: DNA repair; MYH mutation; Colorectal cancer; Genome stability
Rights: Copyright © 2006 Elsevier Ireland Ltd All rights reserved.
DOI: 10.1016/j.canlet.2006.09.016
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Paediatrics publications

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