Skip Navigation

This Article
Right arrow Full Text (PDF)
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 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 (60)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Barceló, J. M.
Right arrow Articles by Korneluk, R. G.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Barceló, J. M.
Right arrow Articles by Korneluk, R. G.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© 1993 Oxford University Press

OTHER

Intergenerational stability of the myotonic dystrophy protomutation

Juana M. Barceló1, Mani S. Mahadevan1, Catherine Tsilfidis1, Alex E. MacKenzie2,3 and Robert G. Korneluk1,3,*

1Department of Microbiology and Immunology Ottawa, Ontario K1H 8M5 2Department of Biochemistry, University of Ottawa Ottawa, Ontario K1H 8M5 3Children's Hospital of Eastern Ontario Ottawa, Ontario K1H 8L1, Canada

*To whom correspondence should be addressed at: Molecular Genetics Laboratory, Research Institute, Children's Hospital of Eastern Ontario, 401 Smyth Rd, Ottawa, Ontario K1H 8L1, Canada

Received February 10, 1993; Revised March 22, 1993; Accepted March 22, 1993

The amplification of the CTG trinucleotide repeat in myotonic dystrophy (DM) correlates with increasingly severe phenotypes. We designate its minimal amplification the ‘protomutation’ since it is the mutation itself at an early stage of intergenerational evolution and is associated with very mild clinical signs. From the study of 536 DM mutation carriers (from 158 affected families), a total of 60 DM-parent/DM-offspring pairings were identified in which the parent had the protomutation. We found a strong correlation between the protomutation length and the amplification observed in the next generation. We also observed the stable transmission of the protomutation through successive generations. This stability may explain the maintenance in the population of this autosomal dominant disease despite the low reproductive fitness of severe DM phenotypes.


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
 Nucleic Acids ResHome page
E. Pineiro, L. Fernandez-Lopez, J. Gamez, R. Marcos, J. Surralles, and A. Velazquez
Mutagenic stress modulates the dynamics of CTG repeat instability associated with myotonic dystrophy type 1
Nucleic Acids Res., December 1, 2003; 31(23): 6733 - 6740.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
L. Martorell, D.G. Monckton, A. Sanchez, A. Lopez de Munain, and M. Baiget
Frequency and stability of the myotonic dystrophy type 1 premutation
Neurology, February 13, 2001; 56(3): 328 - 335.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
L. A. Sabourin, K. Tamai, M. A. Narang, and R. G. Korneluk
Overexpression of 3'-Untranslated Region of the Myotonic Dystrophy Kinase cDNA Inhibits Myoblast Differentiation in Vitro
J. Biol. Chem., November 21, 1997; 272(47): 29626 - 29635.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
J. D. Waring, R. Haq, K. Tamai, L. A. Sabourin, J.-E Ikeda, and R. G. Korneluk
Investigation of Myotonic Dystrophy Kinase Isoform Translocation and Membrane Association
J. Biol. Chem., June 21, 1996; 271(25): 15187 - 15193.
[Abstract] [Full Text] [PDF]

Home page
 CirculationHome page
D. G. Monckton and C. T. Caskey
Unstable Triplet Repeat Diseases
Circulation, January 15, 1995; 91(2): 513 - 520.
[Abstract] [Full Text]


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.