Tissue-dependent regulation of RNAP II dynamics: the missing link between transcription and trinucleotide repeat instability in diseases?

Transcription. 2013 Jul-Aug;4(4):172-6. doi: 10.4161/trns.25971. Epub 2013 Aug 2.

Abstract

More than 15 human genetic diseases, including Huntington's disease, result from the expansion of a trinucleotide repeat. The expansions are unstable in specific somatic tissues, which can lead to disease acceleration. Here we discuss the role of transcription elongation in tissue-selective trinucleotide repeat instability.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cerebellum / metabolism
  • Chromatin / chemistry
  • Chromatin / metabolism
  • Corpus Striatum / metabolism
  • Genomic Instability
  • Histones / metabolism
  • Humans
  • Huntingtin Protein
  • Huntington Disease / genetics*
  • Huntington Disease / metabolism
  • Huntington Disease / pathology
  • Mice
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism
  • RNA Polymerase II / metabolism*
  • RNA, Messenger / chemistry
  • RNA, Messenger / metabolism
  • Transcription Elongation, Genetic
  • Trinucleotide Repeats

Substances

  • Chromatin
  • HTT protein, human
  • Histones
  • Huntingtin Protein
  • Nerve Tissue Proteins
  • RNA, Messenger
  • RNA Polymerase II