Note to users. If you're seeing this message, it means that your browser cannot find this page's style/presentation instructions -- or possibly that you are using a browser that does not support current Web standards. Find out more about why this message is appearing, and what you can do to make your experience of our site the best it can be.
Triplet repeat diseases are disorders in which there is expansion of a repeat sequence of three nucleotides in the affected gene. Although the pathology usually results from production of a defective protein, myotonic dystrophy (DM) has proved to be a puzzle because the expanded repeats appear in a non-coding region of the affected DMPK gene. In a Perspective, Tapscott explains how findings from a new mouse model of DM (Mankodi et al.) could solve this paradox.
The author is in the Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA. E-mail: stapscot{at}fhcrc.org
The editors suggest the following Related Resources on Science sites:
In Science Magazine
REPORTS
Ami Mankodi, Eric Logigian, Linda Callahan, Carolyn McClain, Robert White, Don Henderson, Matt Krym, and Charles A. Thornton (8 September 2000) Science289 (5485), 1769.
[DOI: 10.1126/science.289.5485.1769] |Abstract »|Full Text »|PDF »
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Homozygous Myotonic Dystrophy With Craniosynostosis.
M. Cerghet, D. Tapos, F. J. Serajee, and A. H. M. Mahbubul Huq (2008)
J Child Neurol
23, 930-933
|Abstract »|PDF »
An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals.
P. D. Ladd, L. E. Smith, N. A. Rabaia, J. M. Moore, S. A. Georges, R. S. Hansen, R. J. Hagerman, F. Tassone, S. J. Tapscott, and G. N. Filippova (2007)
Hum. Mol. Genet.
16, 3174-3187
|Abstract »|Full Text »|PDF »
DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression.
J. M. Margolis, B. G. Schoser, M. L. Moseley, J. W. Day, and L. P.W. Ranum (2006)
Hum. Mol. Genet.
15, 1808-1815
|Abstract »|Full Text »|PDF »
HnRNP H inhibits nuclear export of mRNA containing expanded CUG repeats and a distal branch point sequence.
D.-H. Kim, M.-A. Langlois, K.-B. Lee, A. D. Riggs, J. Puymirat, and J. J. Rossi (2005)
Nucleic Acids Res.
33, 3866-3874
|Abstract »|Full Text »|PDF »
Ataxin-10, the Spinocerebellar Ataxia Type 10 Neurodegenerative Disorder Protein, Is Essential for Survival of Cerebellar Neurons.
P. Marz, A. Probst, S. Lang, M. Schwager, S. Rose-John, U. Otten, and S. Ozbek (2004)
J. Biol. Chem.
279, 35542-35550
|Abstract »|Full Text »|PDF »
Abnormal contractile activity and calcium cycling in cardiac myocytes isolated from dmpk knockout mice.
G. S. Pall, K. J. Johnson, and G. L. Smith (2003)
Physiol Genomics
13, 139-146
|Abstract »|Full Text »|PDF »
Genetics 101: detecting mutations in human genes.
A. Sinclair (2002)
Can. Med. Assoc. J.
167, 275-279
|Full Text »|PDF »
Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins.
W. J. A. A. van den Broek, M. R. Nelen, D. G. Wansink, M. M. Coerwinkel, H. te Riele, P. J. T. A. Groenen, and B. Wieringa (2002)
Hum. Mol. Genet.
11, 191-198
|Abstract »|Full Text »|PDF »
Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities.
H. Seznec, O. Agbulut, N. Sergeant, C. Savouret, A. Ghestem, N. Tabti, J.-C. Willer, L. Ourth, C. Duros, E. Brisson, et al. (2001)
Hum. Mol. Genet.
10, 2717-2726
|Abstract »|Full Text »|PDF »
Dynamic mutations: a decade of unstable expanded repeats in human genetic disease.
Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2.
A. Mankodi, C. R. Urbinati, Q.-P. Yuan, R. T Moxley, V. Sansone, M. Krym, D. Henderson, M. Schalling, M. S. Swanson, and C. A. Thornton (2001)
Hum. Mol. Genet.
10, 2165-2170
|Abstract »|Full Text »|PDF »
Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9.
C. L. Liquori, K. Ricker, M. L. Moseley, J. F. Jacobsen, W. Kress, S. L. Naylor, J. W. Day, and L. P. W. Ranum (2001)
Science
293, 864-867
|Abstract »|Full Text »|PDF »
