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Literature DB >> 7777532

Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure.

Abstract

Myotonic dystrophy is caused by an expansion of a CTG triplet repeat sequence in the 3' noncoding region of a protein kinase gene, yet the mechanism by which the triplet repeat expansion causes disease remains unknown. This report demonstrates that a DNase I hypersensitive site is positioned 3' of the triplet repeat in the wild-type allele in both fibroblasts and skeletal muscle cells. In three unrelated individuals with myotonic dystrophy that have large expansions of the triplet repeat, the allele with the triplet repeat expansion exhibited both overall DNase I resistance and inaccessibility of nucleases to the adjacent hypersensitive site. These results indicate that the triplet repeat expansion alters the adjacent chromatin structure, establishing a region of condensed chromatin, and suggests a molecular mechanism for myotonic dystrophy.

Entities: Disease Gene

Mesh：

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Year: 1995 PMID： 7777532 PMCID： PMC41715 DOI： 10.1073/pnas.92.12.5465

Source DB: PubMed Journal: Proc Natl Acad Sci U S A ISSN： 0027-8424 Impact factor: 11.205

25 in total

1. Differences and similarities in DNA-binding preferences of MyoD and E2A protein complexes revealed by binding site selection.

Authors: T K Blackwell; H Weintraub
Journal: Science Date: 1990-11-23 Impact factor: 47.728

Review 2. Triplet repeat mutations in human disease.

Authors: C T Caskey; A Pizzuti; Y H Fu; R G Fenwick; D L Nelson
Journal: Science Date: 1992-05-08 Impact factor: 47.728

3. Activation of muscle-specific genes in pigment, nerve, fat, liver, and fibroblast cell lines by forced expression of MyoD.

Authors: H Weintraub; S J Tapscott; R L Davis; M J Thayer; M A Adam; A B Lassar; A D Miller
Journal: Proc Natl Acad Sci U S A Date: 1989-07 Impact factor: 11.205

4. Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene.

Authors: Y H Wang; S Amirhaeri; S Kang; R D Wells; J D Griffith
Journal: Science Date: 1994-07-29 Impact factor: 47.728

Review 5. Proposed genetic basis of Huntington's disease.

Authors: C D Laird
Journal: Trends Genet Date: 1990-08 Impact factor: 11.639

6. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene.

Authors: M Mahadevan; C Tsilfidis; L Sabourin; G Shutler; C Amemiya; G Jansen; C Neville; M Narang; J Barceló; K O'Hoy
Journal: Science Date: 1992-03-06 Impact factor: 47.728

7. Promoter sequence containing (CT)n.(GA)n repeats is critical for the formation of the DNase I hypersensitive sites in the Drosophila hsp26 gene.

Authors: Q Lu; L L Wallrath; B D Allan; R L Glaser; J T Lis; S C Elgin
Journal: J Mol Biol Date: 1992-06-20 Impact factor: 5.469

8. Minimal expression of myotonic dystrophy: a clinical and molecular analysis.

Authors: W Reardon; H G Harley; J D Brook; S A Rundle; S Crow; P S Harper; D J Shaw
Journal: J Med Genet Date: 1992-11 Impact factor: 6.318

9. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy.

Authors: H G Harley; J D Brook; S A Rundle; S Crow; W Reardon; A J Buckler; P S Harper; D E Housman; D J Shaw
Journal: Nature Date: 1992-02-06 Impact factor: 49.962

10. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

Authors: J D Brook; M E McCurrach; H G Harley; A J Buckler; D Church; H Aburatani; K Hunter; V P Stanton; J P Thirion; T Hudson
Journal: Cell Date: 1992-02-21 Impact factor: 41.582

52 in total

1. RNA steady-state defects in myotonic dystrophy are linked to nuclear exclusion of SHARP.

Authors: Warunee Dansithong; Sonali P Jog; Sharan Paul; Robabeh Mohammadzadeh; Stephanie Tring; Yukwah Kwok; Rebecca C Fry; Paul Marjoram; Lucio Comai; Sita Reddy
Journal: EMBO Rep Date: 2011-07-01 Impact factor: 8.807

2. The role of MOF in the ionizing radiation response is conserved in Drosophila melanogaster.

Authors: Manika P Bhadra; Nobuo Horikoshi; Sreerangam N C V L Pushpavallipvalli; Arpita Sarkar; Indira Bag; Anita Krishnan; John C Lucchesi; Rakesh Kumar; Qin Yang; Raj K Pandita; Mayank Singh; Utpal Bhadra; Joel C Eissenberg; Tej K Pandita
Journal: Chromosoma Date: 2011-11-10 Impact factor: 4.316

Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure.

1. Differences and similarities in DNA-binding preferences of MyoD and E2A protein complexes revealed by binding site selection.

Review 2. Triplet repeat mutations in human disease.

3. Activation of muscle-specific genes in pigment, nerve, fat, liver, and fibroblast cell lines by forced expression of MyoD.

4. Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene.

Review 5. Proposed genetic basis of Huntington's disease.

6. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene.

7. Promoter sequence containing (CT)n.(GA)n repeats is critical for the formation of the DNase I hypersensitive sites in the Drosophila hsp26 gene.

8. Minimal expression of myotonic dystrophy: a clinical and molecular analysis.

9. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy.

10. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

1. RNA steady-state defects in myotonic dystrophy are linked to nuclear exclusion of SHARP.

2. The role of MOF in the ionizing radiation response is conserved in Drosophila melanogaster.

Review 3. Epigenetic changes and non-coding expanded repeats.

4. Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes.

5. A novel signal processing measure to identify exact and inexact tandem repeat patterns in DNA sequences.

6. Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues.

Review 7. Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2.

Review 8. Misregulation of alternative splicing causes pathogenesis in myotonic dystrophy.

Review 9. Chromatin remodeling in the noncoding repeat expansion diseases.

Review 10. Pathogenic mechanisms of myotonic dystrophy.