DOI: 10.1002/bies.950160411. Trinucleotide repeat expansions and human genetic disease

Trinucleotide repeat expansions and human genetic disease

10.1002/bies.950160411

Crossref journal-article

Wiley

BioEssays (311)

Abstract

AbstractTrinucleotide repeat expansions are now a well‐established mutational mechanism in human genetic disease. An unstable CAG repeat is known to be responsible for three neurodegenerative disorders: Huntington's disease, spinal and bulbar musclar atrophy and spinocerebellar ataxia type 1. Similarities in the genetics of these diseases, the size of the repeat expansions and the position of the unstable repeat within the gene (when known) suggest a common basis to the observed phenotypes. The cloning of two regions at which chromosome breakage can be induced (FRAXA and FRAXE) has in each case uncovered an unstable CG‐rich triplet repeat which becomes methylated when fully expanded. In addition to these two classes of mutation, the presence of an expanded CTG repeat in the 3′ untranslated region of a protein kinase causes myotonic dystrophy. The size of the respective expansions, repeat stability, mutational origins and possible mechanisms of action are discussed.

Bibliography

Bates, G., & Lehrach, H. (1994). Trinucleotide repeat expansions and human genetic disease. BioEssays, 16(4), 277â284. Portico.

Authors 2

Gillian Bates (first)
Hans Lehrach (additional)

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Dates

Type	When
Created	20 years, 6 months ago (Feb. 25, 2005, 5:36 a.m.)
Deposited	1 year, 11 months ago (Sept. 27, 2023, 10:37 p.m.)
Indexed	3 months, 1 week ago (May 22, 2025, 3:12 a.m.)
Issued	31 years, 4 months ago (April 1, 1994)
Published	31 years, 4 months ago (April 1, 1994)
Published Online	20 years, 6 months ago (Feb. 5, 2005)
Published Print	31 years, 4 months ago (April 1, 1994)

Funders 0

None

BibTeX

@article{Bates_1994, title={Trinucleotide repeat expansions and human genetic disease}, volume={16}, ISSN={1521-1878}, url={http://dx.doi.org/10.1002/bies.950160411}, DOI={10.1002/bies.950160411}, number={4}, journal={BioEssays}, publisher={Wiley}, author={Bates, Gillian and Lehrach, Hans}, year={1994}, month=apr, pages={277–284} }

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