Intriguing association between disease associated unstable trinucleotide repeat and CpG island.
Expansion of (C+G)-rich trinucleotide repeats has been shown to be associated with several autosomal or X-linked genetic diseases and/or fragile sites. By analysing the sequences available in the databases, we found, in a significant proportion of triplet associated genes or fragile sites (11/12), a CpG island close to the trinucleotide repeat. This association led us to assume that flanking regions and chromatin structure near the triplets might play a role in repeat instability.
Gourdon
G
G
INSERM. U 383, Hôpital Necker-Enfants Malades, Université René, Paris V, France.
Dessen
P
P
Lia
A S
AS
Junien
C
C
Hofmann-Radvanyi
H
H
D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D018899:CpG Islands; D008040:Genetic Linkage; D006801:Humans; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D018911:Trinucleotide Repeats; D014960:X Chromosome