An upstream open reading frame impedes translation of the huntingtin gene.
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ABSTRACT:
SUBMITTER: Lee J
PROVIDER: S-EPMC137975 | biostudies-literature | 2002 Dec
REPOSITORIES: biostudies-literature
Publications
An upstream open reading frame impedes translation of the huntingtin gene.
Lee Joseph J Park Eun Hee EH Couture Graeme G Harvey Isabelle I Garneau Philippe P Pelletier Jerry J
Nucleic acids research 20021201 23
Expansion of a CAG tract within the huntingtin gene, leading to the production of a protein with an expanded polyglutamine tract, is responsible for Huntington's disease. We show here that the 5' untranslated region (UTR) of the huntingtin gene plays an important role in controlling the synthesis of huntingtin. In particular, the 5' UTR contains an upstream open reading frame (uORF) encoding a 21 amino acid peptide. We demonstrate that the presence of this uORF negatively influences expression f ...[more]
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