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|Title:||Functional characterization of human MutY homolog (hMYH) missense mutation (R231L) that is linked with hMYH-associated polyposis|
|Citation:||Cancer Letters, 2007; 250(1):74-81|
|Publisher:||Elsevier Science Ireland|
|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.|
|Appears in Collections:||Paediatrics publications|
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