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We present two new cases of Warsaw Breakage Syndrome (WABS), an autosomal recessive cohesinopathy, in sisters aged 13 and 11 years who both had compound heterozygous mutations in DDX11
A mutation has been identified in HPV16 E2 that abrogates interaction with ChlR1, and it was shown that ChlR1 regulates the chromatin association of HPV16 E2 and that this virus-host interaction is essential for viral episome maintenance.
In this study, we found that cohesion establishment factors, like CHlR1, cooperatively stimulate endonuclease activity of hFen1 in in vivo mimic condition, including replication protein-A (显示 GPR153 蛋白)-coated DNA and high salt.
DDX11 and Tim proteins physically and functionally interact and act in concert to preserve replication fork progression in perturbed conditions.
Q Motif Is Involved in DNA Binding but Not ATP Binding in ChlR1 Helicase
our results indicate that DDX11 functions as a positive regulator of rRNA transcription and provides a novel insight into the pathogenesis of WABS.
A distinct triplex DNA unwinding activity of ChlR1 helicase.
ChlR1 plays a critically important role in cellular replication and/or DNA repair. [review]
Data indicate a homozygous mutation (c.788G>A [p.R263Q]) in DDX11 in three affected siblings with severe intellectual disability and many of the congenital abnormalities reported in the Warsaw breakage syndrome (WABS) original case.
helicase DDX11 is expressed at high levels in primary and metastatic melanoma, and that interfering with its expression leads to severe chromosome segregation defects, telomere shortening, and massive melanoma cell apoptosis.
ChlR1 is essential for embryonic development and the prevention of aneuploidy in mammals.
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms.
DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11
, DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homolog, S. cerevisiae)
, CHL1-like helicase homolog
, CHL1-related helicase gene-1
, CHL1-related protein 1
, DEAD/H box protein 11
, keratinocyte growth factor-regulated gene 2 protein
, probable ATP-dependent RNA helicase DDX11