Triplet repeat DNA structures and human genetic disease: dynamic mutations from dynamic DNA

Fourteen genetic neurodegenerative diseases and three fragile sites have been associated with the expansion of (CTG)n (CAG)n, (CGG)n (CCG)n, or (GAA)n (TTC)n repeat tracts. Different models have been proposed for the expansion of triplet repeats, most of which presume the formation of alternative DN...

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Bibliographic Details
Published in:Journal of biosciences 2002-02, Vol.27 (1 Suppl 1), p.53-65
Main Authors: Sinden, Richard R, Potaman, Vladimir N, Oussatcheva, Elena A, Pearson, Christopher E, Lyubchenko, Yuri L, Shlyakhtenko, Luda S
Format: Article
Language:English
Subjects:
Deoxyribonucleic acid
DNA
DNA - chemistry
DNA - genetics
Genetics
Humans
Microscopy, Atomic Force
Models, Genetic
Mutation
Neurodegenerative Diseases - genetics
Nucleic Acid Conformation
Trinucleotide Repeat Expansion
Trinucleotide Repeats
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Summary:Fourteen genetic neurodegenerative diseases and three fragile sites have been associated with the expansion of (CTG)n (CAG)n, (CGG)n (CCG)n, or (GAA)n (TTC)n repeat tracts. Different models have been proposed for the expansion of triplet repeats, most of which presume the formation of alternative DNA structures in repeat tracts. One of the most likely structures, slipped strand DNA, may stably and reproducibly form within triplet repeat sequences. The propensity to form slipped strand DNA is proportional to the length and homogeneity of the repeat tract. The remarkable stability of slipped strand DNA may, in part, be due to loop-loop interactions facilitated by the sequence complementarity of the loops and the dynamic structure of three-way junctions formed at the loop-outs.
ISSN:0250-5991
0973-7138
DOI:10.1007/BF02703683