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Nucleic Acids Research 2005 33(8):2650-2660; doi:10.1093/nar/gki555
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Published online 11 May 2005

© The Author 2005. Published by Oxford University Press. All rights reserved
The online version of this article has been published under an open access model. Users are entitled to use, reproduce, disseminate, or display the open access version of this article for non-commercial purposes provided that: the original authorship is properly and fully attributed; the Journal and Oxford University Press are attributed as the original place of publication with the correct citation details given; if an article is subsequently reproduced or disseminated not in its entirety but only in part or as a derivative work this must be clearly indicated. For commercial re-use, please contact journals.permissions{at}oupjournals.org

Article

ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith–Wiedemann syndrome

Takahiro Arima*, Tetsuya Kamikihara, Toshirou Hayashida1, Kiyoko Kato, Toshiaki Inoue2, Yasuaki Shirayoshi1, Mitsuo Oshimura3, Hidenobu Soejima4, Tunehiro Mukai2 and Norio Wake

Department of Reproductive Physiology and Endocrinology, Medical Institute of Bioregulation, Kyusyu University 4546, Tsurumihara, Beppu, Oita 874-0838, Japan 1Department of Molecular and Cell Genetics, Institute of Regenerative Medicine and Biofunction, Graduate School of Medical Science, Tottori University Nishi-cho 86, Yonago, Tottori 683-8503, Japan 2Department of Human Genome Science (Kirin Brewery), Institute of Regenerative Medicine and Biofunction, Graduate School of Medical Science, Tottori University Nishi-cho 86, Yonago, Tottori 683-8503, Japan 3Department of Biomedical Science, Institute of Regenerative Medicine and Biofunction, Graduate School of Medical Science, Tottori University Nishi-cho 86, Yonago, Tottori 683-8503, Japan 4Department of Biochemistry, Saga Medical School 5-1-1 Nabeshima, Saga 849-8501, Japan

*To whom correspondence should be addressed. Tel: +81 977 271660; Fax: +81 977 271661; Email: tarima{at}tsurumi.beppu.kyushu-u.ac.jp

Received February 11, 2005. Revised April 18, 2005. Accepted April 18, 2005.

Loss of genomic imprinting is involved in a number of developmental abnormalities and cancers. ZAC is an imprinted gene expressed from the paternal allele of chromosome 6q24 within a region known to harbor a tumor suppressor gene for several types of neoplasia. p57KIP2 (CDKN1C) is a maternally expressed gene located on chromosome 11p15.5 which encodes a cyclin-dependent kinase inhibitor that may also act as a tumor suppressor gene. Mutations in ZAC and p57KIP2 have been implicated in transient neonatal diabetes mellitus (TNDB) and Beckwith–Wiedemann syndrome, respectively. Patients with these diseases share many characteristics. Here we show that mouse Zac1 and p57Kip2 have a strikingly similar expression pattern. ZAC, a sequence-specific DNA-binding protein, binds within the CpG island of LIT1 (KCNQ1OT1), a paternally expressed, anti-sense RNA thought to negatively regulate p57KIP2 in cis. ZAC induces LIT1 transcription in a methylation-dependent manner. Our data suggest that ZAC may regulate p57KIP2 through LIT1, forming part of a novel signaling pathway regulating cell growth. Mutations in ZAC may, therefore, contribute to Beckwith–Wiedemann syndrome. Furthermore, we find changes in DNA methylation at the LIT1 putative imprinting control region in two patients with TNDB.


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