Somatic Cell and Molecular Genetics

, Volume 22, Issue 6, pp 435–441 | Cite as

Nuclease sensitivity of permeabilized cells confirms altered chromatin formation at the fragile X locus

  • Derek E. Eberhart
  • Stephen T. Warren


Fragile X syndrome is caused by the expansion and concomitant methylation of a CGG repeat in the 5′ untranslated region of the FMR1 gene which results in the transcriptional silencing of the FMR1 gene, delayed replication of the FMR1 locus, and the formation of a folate sensitive fragile site (FRAXA) at Xq27.3. The mechanism by which repeat expansion and methylation causes these changes is unknown. An in vivo system in which cells were permeabilized with lysophosphatidylcholine followed by digestion with MspI endonuclease was utilized to assess the chromatin conformation at the fragile X locus. The FMR1 gene was inaccessible to Mspl digestion in fragile X patients, but not in normal or carrier individuals, confirming that altered chromatin conformation results from the repeat expansion and methylation seen in fragile X syndrome.


Folate Untranslated Region Permeabilized Cell Repeat Expansion Fragile Site 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Plenum Publishing Corporation 1996

Authors and Affiliations

  • Derek E. Eberhart
    • 1
  • Stephen T. Warren
    • 1
  1. 1.Howard Hughes Medical Institute and Departments of Biochemistry and PediatricsEmory University School of MedicineAtlanta

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