Structural characteristics of trinucleotide repeats in transcripts

Wlodzimierz J. Krzyzosiak, Krzysztof Sobczak, Marek Napierala

Research output: Chapter in Book/Report/Conference proceedingChapter

7 Scopus citations


This chapter discusses structural features of triplet repeats in transcripts relevant to the more prominent role of RNA in the pathogenesis of triplet repeat expansion diseases (TRED). The number of different transcripts harboring triplet repeats but also their expression levels in different cell types and tissues influence the cellular balance of the repeat containing transcripts and repeat binding proteins, which might be important for the mechanism of RNA-mediated pathogenesis. Bearing that in mind, the available gene expression data have been analyzed, by using tools of bioinformatics, to characterize the abundance of a large group of the repeat containing transcripts in different human tissues: brain, prostate, liver, kidney, pancreas, and lung. The CNG repeat containing transcripts were shown to belong to moderate and low abundance classes. The CNG repeat regions in transcripts may form hairpin structures of different molecular architecture. Moreover, hairpins composed of a lower number of repeats but well-stabilized by the flanking sequences may exert effects similar to those composed of a larger number of repeats, but lacking any additional stabilization.

Original languageEnglish (US)
Title of host publicationGenetic Instabilities and Neurological Diseases, Second Edition
PublisherElsevier Inc.
Number of pages9
ISBN (Print)9780123694621
StatePublished - 2006
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


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