Article
The Rothmund-Thomson syndrome helicase RECQL4 is essential for hematopoiesis.
The Journal of clinical investigation - 1 Aug 2014
Smeets Monique F, DeLuca Elisabetta, Wall Meaghan, Quach Julie M, Chalk Alistair M, Deans Andrew J, Heierhorst Jörg, Purton Louise E, Izon David J, Walkley Carl R
Abstract excerpt
Mutations within the gene encoding the DNA helicase RECQL4 underlie the autosomal recessive cancer-predisposition disorder Rothmund-Thomson syndrome, though it is unclear how these mutations lead to disease. Here, we demonstrated that somatic deletion of Recql4 causes a rapid bone marrow failure in mice that involves cells from across the myeloid, lymphoid, and, most profoundly, erythroid lineages. Apoptosis was...
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