[PDF][PDF] Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1
P van der Lelij, KH Chrzanowska, BC Godthelp… - The American Journal of …, 2010 - cell.com
P van der Lelij, KH Chrzanowska, BC Godthelp, MA Rooimans, AB Oostra, M Stumm…
The American Journal of Human Genetics, 2010•cell.comThe iron-sulfur-containing DNA helicases XPD, FANCJ, DDX11, and RTEL represent a
small subclass of superfamily 2 helicases. XPD and FANCJ have been connected to the
genetic instability syndromes xeroderma pigmentosum and Fanconi anemia. Here, we
report a human individual with biallelic mutations in DDX11. Defective DDX11 is associated
with a unique cellular phenotype in which features of Fanconi anemia (drug-induced
chromosomal breakage) and Roberts syndrome (sister chromatid cohesion defects) coexist …
small subclass of superfamily 2 helicases. XPD and FANCJ have been connected to the
genetic instability syndromes xeroderma pigmentosum and Fanconi anemia. Here, we
report a human individual with biallelic mutations in DDX11. Defective DDX11 is associated
with a unique cellular phenotype in which features of Fanconi anemia (drug-induced
chromosomal breakage) and Roberts syndrome (sister chromatid cohesion defects) coexist …
The iron-sulfur-containing DNA helicases XPD, FANCJ, DDX11, and RTEL represent a small subclass of superfamily 2 helicases. XPD and FANCJ have been connected to the genetic instability syndromes xeroderma pigmentosum and Fanconi anemia. Here, we report a human individual with biallelic mutations in DDX11. Defective DDX11 is associated with a unique cellular phenotype in which features of Fanconi anemia (drug-induced chromosomal breakage) and Roberts syndrome (sister chromatid cohesion defects) coexist. The DDX11-deficient patient represents another cohesinopathy, besides Cornelia de Lange syndrome and Roberts syndrome, and shows that DDX11 functions at the interface between DNA repair and sister chromatid cohesion.
cell.com