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Human Molecular Genetics Advance Access originally published online on July 29, 2003
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Human Molecular Genetics, 2003, Vol. 12, No. 18 2293-2299
DOI: 10.1093/hmg/ddg254
© 2003 Oxford University Press

Growth retardation and skin abnormalities of the Recql4-deficient mouse

Yuko Hoki1,{dagger}, Ryoko Araki1,{dagger}, Akira Fujimori1,{dagger}, Tatsuya Ohhata1,{dagger}, Haruhiko Koseki2, Ryutaro Fukumura1, Miki Nakamura1, Hirokazu Takahashi1, Yuko Noda1, Seiji Kito1 and Masumi Abe1,*

1National Institute of Radiological Sciences, Chiba, Japan and 2Department of Molecular Embryology, Graduate School of Medicine, Chiba University, Chiba, Japan

Received April 16, 2003; Revised July 8, 2003; Accepted July 20, 2003

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.

* To whom correspondence should be addressed at: National Institute of Radiological Sciences, 4-9-1 Anagawa, Inage-ku, Chiba 263-8555, Japan. Tel: +81 432063219; Fax: +81 432514593; Email: abemasum{at}nirs.go.jp

{dagger} The authors wish it to be known that, in their opinion, the first four authors should be regarded as joint First Authors.


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