RECQL4-deficient mouse: an animal model for Rothmund-Thomson syndrome

RECQL4 is a candidate gene responsible for a subset of Rothmund-Thomson Syndrome (RTS). The RECQL4-/- mice expressing the RECQL4 gene with a premature termination codon before its consensus helicase domain causes embryonic lethality at day 3.5- 6. In order to obtain a model animal for the syndrome, we generated the helicase -inactivated mice by deleting the exon13, one of the exons coding the consensus RECQ helicase domain in which most mutations of RTS patients have been identified. The exon13-deleted mice were viable but exhibited severe growth retardation and hypoplastic phenotype in skin, thymus, spleen and intestine. Furthermore, embryonic fibroblasts showed defect in cell proliferation. These observation suggests that helicase activity of RECQL4 is associated with general cellular proliferation mechanism and indicated that loss of RECQL4 helicase activity can cause appearance of prematured aging that is observed in a subset of RTS