InterPro domain: IPR013020

This entry includes a group of ATP-dependent helicases, including Rad3/XPD (ERCC2), Chl1/DDX11, DDX12, RTEL1 and BRIP1. Rad3/XPD is a subunit of RNA polII initiation factor TFIIH and of Nucleotide Excision Repair Factor 3 (NEF3) [ 1 , 2 ]. DDX11/Chl1 is required for sister-chromatid cohesion [ 3 , 4 , 5 ].

Defects in DDX11 are the cause of Warsaw breakage syndrome (WBRS). It is a syndrome characterised by severe microcephaly, pre- and postnatal growth retardation, facial dysmorphism and abnormal skin pigmentation [ 6 ].

1. RNA polymerase transcription factor IIH holoenzyme from yeast. J. Biol. Chem. 269, 28044-8
2. Reconstitution of TFIIH and requirement of its DNA helicase subunits, Rad3 and Rad25, in the incision step of nucleotide excision repair. J. Biol. Chem. 271, 10821-6
3. 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
4. CHL1 is a nuclear protein with an essential ATP binding site that exhibits a size-dependent effect on chromosome segregation. Nucleic Acids Res. 28, 3056-64
5. Sister-chromatid cohesion mediated by the alternative RF-CCtf18/Dcc1/Ctf8, the helicase Chl1 and the polymerase-alpha-associated protein Ctf4 is essential for chromatid disjunction during meiosis II. J. Cell. Sci. 117, 3547-59
6. Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1. Am. J. Hum. Genet. 86, 262-6