Ontology highlight
ABSTRACT:
SUBMITTER: Jung H
PROVIDER: S-EPMC4103807 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Jung Hana H Lee Jin A JA Choi Seoyoon S Lee Hyunwoo H Ahn Byungchan B
PloS one 20140718 7
Mutations in three human RecQ genes are implicated in heritable human syndromes. Mutations in BLM, a RecQ gene, cause Bloom syndrome (BS), which is characterized by short stature, cancer predisposition, and sensitivity to sunlight. BLM is a RecQ DNA helicase that, with interacting proteins, is able to dissolve various DNA structures including double Holliday junctions. A BLM ortholog, him-6, has been identified in Caenorhabditis elegans, but little is known about its enzymatic activities or its ...[more]