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https://hdl.handle.net/2440/44372
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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 1872-7980 |
Statement of Responsibility: | 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 |
Description (link): | http://www.elsevier.com/wps/find/journaldescription.cws_home/506050/description#description |
Published version: | http://dx.doi.org/10.1016/j.canlet.2006.09.016 |
Appears in Collections: | Aurora harvest 6 Paediatrics publications |
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