InterPro domain: IPR028331

CHL1 DNA helicase plays a critical role in sister chromatid cohesion [ 1 ]. DDX11 is the mammalian homologue of the yeast CHL1. DDX11 is a DNA helicase involved in cellular proliferation [ 2 ]. In humans a second homologue has been identified, DDX12 [ 3 ]. DDX11 translocates on single-stranded DNA in the 5' to 3' direction in the presence of ATP and, to a lesser extent, dATP. Its unwinding activity requires a 5'-single-stranded region for helicase loading, since flush-ended duplex structures do not support unwinding [ 4 ]. Defects in DDX11 are the cause of Warsaw breakage syndrome (WBRS), a syndrome characterised by severe microcephaly, growth retardation, facial dysmorphism and abnormal skin pigmentation [ 5 ].

1. Chl1 DNA helicase regulates Scc2 deposition specifically during DNA-replication in Saccharomyces cerevisiae. PLoS ONE 8, e75435
2. Loss of ChlR1 helicase in mouse causes lethality due to the accumulation of aneuploid cells generated by cohesion defects and placental malformation. Cell Cycle 6, 1646-54
3. Characterization of putative human homologues of the yeast chromosome transmission fidelity gene, CHL1. J. Biol. Chem. 272, 3823-32
4. Characterization of the enzymatic activity of hChlR1, a novel human DNA helicase. Nucleic Acids Res. 28, 917-24
5. Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1. Am. J. Hum. Genet. 86, 262-6