Warsaw Breakage Syndrome

Warsaw Breakage Syndrome a novel cohesinopathy associated with mutations in DDX11/ChlR1 : 

Warsaw Breakage Syndrome a novel cohesinopathy associated with mutations in DDX11/ChlR1 Department of Clinical Genetics VU University Medical Center van der Lelij et al (2010), American Journal of Human Genetics 86, 262-266 This video is sponsored by Abnova

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Cohesinopathies: Syndromes that are caused by defects in proteins involved in sister chromatid cohesion Cornelia de Lange syndrome (CdLS) Roberts syndrome (RBS) Warsaw breakage syndrome (WABS)

Sister chromatid cohesion : 

Sister chromatid cohesion Cohesion is essential for keeping sister chromatids together after replication Mediated by cohesin complex DNA Cohesin complex

Defects in sister chromatid cohesion : 

Defects in sister chromatid cohesion normal railroads PCS

Defects in sister chromatid cohesion : 

Defects in sister chromatid cohesion 0% 20% 40% 60% 80% 100% percentage of cells PCS >5 RR 3-5 RR 1-2 RR normal - M C RBS CdLS Warsaw breakage syndrome Healthy control - M C - M C - M C

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Warsaw breakage deficient in DDX11/ChlR1 Abnova DDX11 purified MaxPab mouse polyclonal antibody (B01P) 1:1000 Catalog # : H00001663-B01P

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Warsaw breakage deficient in DDX11/ChlR1 Cellular phenotype is caused by DDX11 deficiency

DDX11/ChlR1 : 

DDX11/ChlR1 Chl1 in yeast: DEAH family of DNA helicases Required for sister chromatid cohesion Role in replication fork stability Prevents chromosome loss or missegregation Mutants show G2-M phase delay Interacts with Ctf7/Eco1

DDX11/ChlR1 : 

DDX11/ChlR1 DDX11/hChlR1 in mice: Embryonic lethal Aneuploidy in DDX11-/- embryos DDX11/hChlR1 in human: Only expressed in proliferating cells Cohesion at centromere and along the chromosome arm Helicase related to FANCJ and XPD (FeS cluster)

DDX11/ChlR1 : 

DDX11/ChlR1 DDX11 is an interesting protein for investigating sister chromatid cohesion, replication fork stability and DNA damage response

Acknowledgements : 

Acknowledgements VU Medical Center, Amsterdam, the Netherlands Department of Clinical Genetics: Anneke Oostra Martin Rooimans Hans Joenje Johan de Winter Leiden University Medical Center, the Netherlands Department of toxicogenetics: Barbara Godthelp The children’s memorial Health institute, Warsaw, Poland Department of Medical Genetics: Krystyna Chrzanowska Otto-von-Guericke-University, Magdeburg, Germany Institute of Human Genetics: Markus Stumm Nicolaus Copernicus University, Bydgoszsz, Poland Department of Molecular Genetics: Małgorzata Zdzienicka

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