Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (31)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Bontekoe, C. J. M.
Right arrow Articles by Oostra, B. A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Bontekoe, C. J. M.
Right arrow Articles by Oostra, B. A.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Molecular Genetics, 2001, Vol. 10, No. 16 1693-1699
© 2001 Oxford University Press

Instability of a (CGG)98 repeat in the Fmr1 promoter

C. J. M. Bontekoe, C. E. Bakker, I. M. Nieuwenhuizen, H. van der Linde, H. Lans, D. de Lange, M. C. Hirst1 and B. A. Oostra+

CBG Department of Clinical Genetics, Erasmus University Rotterdam, PO Box 1738, 3000DR Rotterdam, The Netherlands and 1Department of Biological Sciences, The Open University, Milton Keynes, UK

Fragile X syndrome is one of 14 trinucleotide repeat diseases. It arises due to expansion of a CGG repeat which is present in the 5'-untranslated region of the FMR1 gene, disruption of which leads to mental retardation. The mechanisms involved in trinucleotide repeat expansion are poorly understood and to date, transgenic mouse models containing transgenic expanded CGG repeats have failed to reproduce the instability seen in humans. As both cis-acting factors and the genomic context of the CGG repeat are thought to play a role in expansion, we have now generated a knock-in mouse Fmr1 gene in which the murine (CGG)8 repeat has been exchanged with a human (CGG)98 repeat. Unlike other CGG transgenic models, this model shows moderate CGG repeat instability upon both in maternal and paternal transmission. This model will now enable us to study the timing and the mechanism of repeat expansion in mice.

+ To whom correspondence should be addressed. Tel: +31 10 4087198; Fax: +31 10 4089489; Email: oostra@kgen.fgg.eur.nl


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 J. Med. Genet.Home page
C D'Hulst and R F Kooy
Fragile X syndrome: from molecular genetics to therapy
J. Med. Genet., September 1, 2009; 46(9): 577 - 584.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
V. Hashem, J. N. Galloway, M. Mori, R. Willemsen, B. A. Oostra, R. Paylor, and D. L. Nelson
Ectopic expression of CGG containing mRNA is neurotoxic in mammals
Hum. Mol. Genet., July 1, 2009; 18(13): 2443 - 2451.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
B. A. Oostra and R. Willemsen
A fragile balance: FMR1 expression levels
Hum. Mol. Genet., October 15, 2003; 12(90002): R249 - 257.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
R. Willemsen, M. Hoogeveen-Westerveld, S. Reis, J. Holstege, L.-A. W.F.M. Severijnen, I. M. Nieuwenhuizen, M. Schrier, L. van Unen, F. Tassone, A. T. Hoogeveen, et al.
The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome
Hum. Mol. Genet., May 1, 2003; 12(9): 949 - 959.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.