Preparing your results

Our searching services are busy right now. Your search will reload in five seconds.

X
Forgot Password

If you have forgotten your password you can enter your email here and get a temporary password sent to your email.

Growth retardation and skin abnormalities of the Recql4-deficient mouse.

Human molecular genetics | Sep 15, 2003

http://www.ncbi.nlm.nih.gov/pubmed/12915449

Mutations in the Recql4 gene are very likely responsible for a subset of Rothmund-Thomson syndrome (RTS) cases, but until now there has been no animal model to confirm this. Knockout mice in which the Recql4 gene is disrupted at exons 5-8 exhibit embryonic lethality at embryonic day 3.5-6.5. We generated a helicase activity-inhibited mouse by deleting exon 13 of Recql4, which is one of the coding exons of the consensus RecQ-helicase domain. This domain is the primary site of mutations that have been identified in RTS patients. The exon 13-deleted Recql4-deficient mice are viable, but exhibit severe growth retardation and abnormalities in several tissues, and embryonic fibroblasts show a defect in cell proliferation. Abnormalities in the Recql4-deficient mice are similar to those in RTS patients, suggesting that defects in the Recql4 gene may indeed be responsible for RTS. We speculate that the loss of Recql4 helicase activity results in the prematurely aged appearance observed in some RecQ helicase diseases.

Pubmed ID: 12915449 RIS Download

Mesh terms: Adenosine Triphosphatases | Animals | Animals, Newborn | Body Weight | Cells, Cultured | DNA Helicases | Embryo, Mammalian | Fibroblasts | Gene Targeting | Germ-Line Mutation | Humans | Mice | Mice, Inbred C57BL | Radiation, Ionizing | RecQ Helicases | Rothmund-Thomson Syndrome | Skin Abnormalities | Time Factors | Ultraviolet Rays | X-Rays

Research resources used in this publication

None found

Research tools detected in this publication

None found

Data used in this publication

None found

Associated grants

None

Mouse Genome Informatics (Data, Gene Annotation)

Publication data is provided by the National Library of Medicine ® and PubMed ®. Data is retrieved from PubMed ® on a weekly schedule. For terms and conditions see the National Library of Medicine Terms and Conditions.