Nucleic Acids Research, Vol 26, Issue 17 4078-4085, Copyright © 1998 by Oxford University Press
K Usdin
Tandem repeats of certain trinucleotides show extensive intergenerational
instability in humans that is associated with a class of genetic disorders
known as the Triplet Expansion Diseases. This instability is thought to be
a consequence of the formation of intrastrand structures, including
hairpins, triplexes and tetraplexes, by the tandem repeats. I show here
that CGG-repeats which are associated with this group of diseases, and AGG-
and TGG-repeats which are not currently known to be, form several
intrastrand structures including tetraplexes. In all cases the tetraplexes
have the same overall conformation in which all the G residues are involved
in G4- tetrads. CGG-repeats also form stable hairpins, but AGG- and TGG-
repeats do not form hairpins of comparable stability. However, since
tetraplexes can be thought of as folded hairpins, many of the properties
ascribed to disease-associated triplets that form hairpins, may apply to
these sequences as well. The fact that AGG- and TGG- repeats are not
currently associated with any triplet expansion disease suggests either
that the ability to adopt an intrastrand folded structure is not sufficient
for expansion, or that other diseases associated with such triplets might
remain to be identified.
ARTICLES
NGG-triplet repeats form similar intrastrand structures: implications for the triplet expansion diseases
Section on Genomic Structure and Function, Laboratory of Molecular and Cellular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892-0830, USA. ku@helix.nih.gov
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