Sep 23, 2003

Structures of trinucleotide repeats in human transcripts and their functional implications

Nucleic Acids Research
Anna JasinskaWlodzimierz J Krzyzosiak

Abstract

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...Continue Reading

  • References54
  • Citations34

Citations

Mentioned in this Paper

Gene Polymorphism
Short Tandem Repeat
Pathogenic Aspects
Research
RNA Conformation
Pathogenesis
Classification
Genes
Regulation of Biological Process
Transcription, Genetic

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