Structures of trinucleotide repeats in human transcripts and their functional implications

Anna Jasinska, Gracjan Michlewski, Mateusz de Mezer, Krzysztof Sobczak, Piotr Kozlowski, Marek Napierala, Wlodzimierz J. Krzyzosiak

Research output: Contribution to journalArticlepeer-review

64 Scopus citations


Among the goals of RNA structural and functional genomics is determining structures and establishing the functions of a rich repertoire of simple sequence repeats in transcripts. These repeats are present in transcripts from their 'birth' in the nucleus to their 'death' in cytoplasm and have the potential of being involved in many steps of RNA regulation. The knowledge of their structural features and functional roles will also shed more light on the postulated mechanisms of RNA pathogenesis in a growing list of neurological diseases caused by simple sequence repeat expansions. Here, we discuss several different lines of research to support the hypothesis that the mechanism of RNA pathogenesis may be a more common phenomenon triggered or modulated also by abundant long normal repeats. We propose structures of the repeat regions in transcripts of genes involved in Triplet Repeat Expansion Diseases. We have classified the polymorphic repeat alleles of these genes according to their ability to form hairpin structures in transcripts, and describe the distribution of different structural forms of the repeats in the human population. We have also reported the results of a systematic survey of the human transcriptome to identify mRNAs containing triplet repeats and to classify them according to structural and functional criteria. Based on this knowledge, we discuss the putative wider role of triplet repeat RNA hairpins in human diseases. A hypothetical model is proposed in which long normal RNA hairpins formed by the repeats may also be involved in pathogenesis.

Original languageEnglish (US)
Pages (from-to)5463-5468
Number of pages6
JournalNucleic acids research
Issue number19
StatePublished - Oct 1 2003
Externally publishedYes

ASJC Scopus subject areas

  • Genetics


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