RNA structure of trinucleotide repeats associated with human neurological diseases

Krzysztof Sobczak, Mateusz de Mezer, Gracjan Michlewski, Jacek Krol, Wlodzimierz J Krzyzosiak

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

The tandem repeats of trinucleotide sequences are present in many human genes and their expansion in specific genes causes a number of hereditary neurological disorders. The normal function of triplet repeats in transcripts is barely known and the role of expanded RNA repeats in the pathogenesis of Triplet Repeat Expansion Diseases needs to be more fully elucidated. Here we have described the structures formed by transcripts composed of AAG, CAG, CCG, CGG and CUG repeats, which were determined by chemical and enzymatic structure probing. With the exception of the repeated AAG motif, all studied repeats form hairpin structures and these hairpins show several alternative alignments. We have determined the molecular architectures of these co-existing hairpin structures by using transcripts with GC-clamps which imposed single alignments of hairpins. We have provided experimental evidence that CCUG repeats implicated in myotonic dystrophy type 2 also form hairpin structures with properties similar to that composed of the CUG repeats.

Original languageEnglish
Pages (from-to)5469-82
Number of pages14
JournalNucleic Acids Research
Issue number19
Publication statusPublished - 1 Oct 2003

Keywords / Materials (for Non-textual outputs)

  • Base Sequence
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Heredodegenerative Disorders, Nervous System
  • Humans
  • Models, Genetic
  • Molecular Sequence Data
  • Nucleic Acid Conformation
  • RNA, Messenger
  • Sequence Alignment
  • Transcription, Genetic
  • Trinucleotide Repeat Expansion
  • Trinucleotide Repeats


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