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.
Keywords
CytogeneticsMedical geneticsMolecular geneticsGeneticsLibrary scienceGenealogyBiologyComputer scienceHistoryChromosomeGene
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Publication Info
- Year
- 1993
- Type
- article
- Volume
- 2
- Issue
- 9
- Pages
- 1429-1435
- Citations
- 131
- Access
- Closed
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Cite This
Robert I. Richards,
K. Holman,
Sung-Lim Yu
et al.
(1993).
Fragile X syndrome unstable element, p(CCG)n, and other simple tandem repeat sequences are binding sites for specific nuclear proteins.
Human Molecular Genetics
, 2
(9)
, 1429-1435.
https://doi.org/10.1093/hmg/2.9.1429
Identifiers
- DOI
- 10.1093/hmg/2.9.1429