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Results indicate a role for the DDX11-Timeless interaction in coordinating DNA replication with sister chromatid cohesion, and suggest implications for understanding the molecular basis of Warsaw breakage syndrome (WABS).
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DDX11 orchestrates jointly with 9-1-1 and its loader, RAD17, DNA damage tolerance at sites of bulky lesions, and endogenous abasic sites. These functions may explain the essential roles of DDX11 and its similarity with 9-1-1 during development.
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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
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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.
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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-coated DNA and high salt.
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DDX11 and Tim proteins physically and functionally interact and act in concert to preserve replication fork progression in perturbed conditions.
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Q Motif Is Involved in DNA Binding but Not ATP Binding in ChlR1 Helicase
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our results indicate that DDX11 functions as a positive regulator of rRNA transcription and provides a novel insight into the pathogenesis of WABS.
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A distinct triplex DNA unwinding activity of ChlR1 helicase.
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ChlR1 plays a critically important role in cellular replication and/or DNA repair. [review]
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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.
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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.
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The results identify novel roles of Ddx11 during embryo morphogenesis and demonstrate that the activity of its motif V is essential for DDX11 function.
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Wild-type ChlR1 required a minimal 5' single-stranded DNA tail of 15 nucleotides to efficiently unwind a simple duplex DNA substrate.
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The ChlR1 is involved in the proper formation of heterochromatin, which in turn contributes to global nuclear organization and pleiotropic effects.
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These data provide evidence that the association of bovine papillomavirus E2 with human ChlR1 contributes to a loading mechanism during DNA replication rather than direct tethering during mitotic division.
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Timeless associates with the cohesion-promoting DNA helicase ChlR1, which, when overexpressed, partially alleviates the cohesion defect of cells depleted of Timeless-Tipin.
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We present preliminary analysis of a strong candidate gene in the region, the DNA helicase DDX11. In conclusion, we report mapping of the first locus that determines mean telomere length in humans.
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human ChlR1 is required for sister chromatid cohesion and, hence, normal mitotic progression.
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These studies provide compelling evidence that ChlR1 association is required for loading the papillomavirus E2 protein onto mitotic chromosomes and represents a kinetochore-independent mechanism for viral genome maintenance and segregation.
