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CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus
- Source :
- Nature Genetics. 28:335-343
- Publication Year :
- 2001
- Publisher :
- Springer Science and Business Media LLC, 2001.
-
Abstract
- An expansion of a CTG repeat at the DM1 locus causes myotonic dystrophy (DM) by altering the expression of the two adjacent genes, DMPK and SIX5, and through a toxic effect of the repeat-containing RNA. Here we identify two CTCF-binding sites that flank the CTG repeat and form an insulator element between DMPK and SIX5. Methylation of these sites prevents binding of CTCF, indicating that the DM1 locus methylation in congenital DM would disrupt insulator function. Furthermore, CTCF-binding sites are associated with CTG/CAG repeats at several other loci. We suggest a general role for CTG/CAG repeats as components of insulator elements at multiple sites in the human genome.
- Subjects :
- musculoskeletal diseases
CCCTC-Binding Factor
congenital, hereditary, and neonatal diseases and abnormalities
Molecular Sequence Data
Locus (genetics)
Protein Serine-Threonine Kinases
Insulator (genetics)
Biology
Myotonic dystrophy
Myotonin-Protein Kinase
Cell Line
Trinucleotide Repeats
Sequence Homology, Nucleic Acid
Genetics
medicine
Humans
Myotonic Dystrophy
Nuclear Matrix
Gene
Homeodomain Proteins
Binding Sites
Cell-Free System
Myotonin-protein kinase
Methylation
DNA Methylation
medicine.disease
Molecular biology
Nucleosomes
nervous system diseases
DNA-Binding Proteins
Repressor Proteins
CTCF
DNA methylation
CpG Islands
Transcription Factors
Subjects
Details
- ISSN :
- 15461718 and 10614036
- Volume :
- 28
- Database :
- OpenAIRE
- Journal :
- Nature Genetics
- Accession number :
- edsair.doi.dedup.....3f3c56d071394bc187075d94575dcc26