Fragile X syndrome unstable element, p(CCG)n, and other simple tandem repeat sequences are binding sites for specific nuclear proteins

Hum Mol Genet. 1993 Sep;2(9):1429-35. doi: 10.1093/hmg/2.9.1429.

Abstract

The trinucleotide repeat sequences which become unstable in fragile X syndrome and myotonic dystrophy are located in the untranslated regions of their respective genes, FMR1 and DM1. This implies that a functional constraint other than coding capacity maintains the presence of the repeats. In the case of fragile X syndrome, sequences adjacent to the repeat are methylated in affected individuals and the FMR1 gene is transcriptionally inactive. We demonstrate that the fragile X p(CCG)n repeat itself is methylated in vivo and that methylation of this repeat is able to inhibit in vitro binding of a novel, specific nuclear p(CCG)n binding protein (CCG-BP1)--one of at least 10 distinct simple tandem repeat sequence binding proteins (STR-BPs). We describe additional, apparently distinct, binding activities both for the methylated form of the p(CCG)n repeat and for each of the single strands of the repeat.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Binding Sites
  • DNA-Binding Proteins / metabolism*
  • Fragile X Syndrome / genetics*
  • Fragile X Syndrome / metabolism
  • Humans
  • Male
  • Methylation
  • Molecular Sequence Data
  • Nuclear Proteins / metabolism*
  • Oligodeoxyribonucleotides / chemistry
  • Oligodeoxyribonucleotides / genetics*
  • Oligodeoxyribonucleotides / metabolism
  • Repetitive Sequences, Nucleic Acid*

Substances

  • DNA-Binding Proteins
  • Nuclear Proteins
  • Oligodeoxyribonucleotides