Ontology highlight
ABSTRACT:
SUBMITTER: Crossan GP
PROVIDER: S-EPMC3624090 | biostudies-other | 2011 Feb
REPOSITORIES: biostudies-other
Nature genetics 20110116 2
The evolutionarily conserved SLX4 protein, a key regulator of nucleases, is critical for DNA damage response. SLX4 nuclease complexes mediate repair during replication and can also resolve Holliday junctions formed during homologous recombination. Here we describe the phenotype of the Btbd12 knockout mouse, the mouse ortholog of SLX4, which recapitulates many key features of the human genetic illness Fanconi anemia. Btbd12-deficient animals are born at sub-Mendelian ratios, have greatly reduced ...[more]