Ontology highlight
ABSTRACT:
SUBMITTER: Donigan KA
PROVIDER: S-EPMC3624760 | biostudies-literature | 2012 Apr
REPOSITORIES: biostudies-literature
Donigan Katherine A KA Hile Suzanne E SE Eckert Kristin A KA Sweasy Joann B JB
DNA repair 20120215 4
Approximately 30% of human tumors sequenced to date harbor mutations in the POLB gene that are not present in matched normal tissue. Many mutations give rise to enzymes that contain non-synonymous single amino acid substitutions, several of which have been found to have aberrant activity or fidelity and transform cells when expressed. The DNA Polymerase β (Pol β) variant Asp160Asn (D160N) was first identified in a gastric tumor. Expression of D160N in cells induces cellular transformation as mea ...[more]