Mutation of POLB causes lupus in mice.
Ontology highlight
ABSTRACT:
SUBMITTER: Senejani AG
PROVIDER: S-EPMC3916967 | biostudies-literature | 2014 Jan
REPOSITORIES: biostudies-literature
Publications
Mutation of POLB causes lupus in mice.
Senejani Alireza G AG Liu Yanfeng Y Kidane Dawit D Maher Stephen E SE Zeiss Caroline J CJ Park Hong-Jae HJ Kashgarian Michael M McNiff Jennifer M JM Zelterman Daniel D Bothwell Alfred L M AL Sweasy Joann B JB
Cell reports 20140102 1
A replication study of a previous genome-wide association study (GWAS) suggested that a SNP linked to the POLB gene is associated with systemic lupus erythematosus (SLE). This SNP is correlated with decreased expression of Pol β, a key enzyme in the base excision repair (BER) pathway. To determine whether decreased Pol β activity results in SLE, we constructed a mouse model of POLB that encodes an enzyme with slow DNA polymerase activity. We show that mice expressing this hypomorphic POLB allele ...[more]
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