The fragile X syndrome (FXS), the most common cause of heritable intellectual disability, is caused by expansion of a CGG repeat located at the 5' UTR of the FMR1 gene and subsequent epigenetic modifications of its promoter. Epigenetic modifications include both methylation of the cytosines of the CpG island in the promoter region and of the expanded CGG triplet, and posttranslational histone changes. The combination of these changes, one structural (expansion) and one epigenetic (methylation and histone modifications), results in transcriptional silencing, even though the coding region of the FMR1 gene remains intact. Here we describe the molecular methods used to study both DNA methylation and histone epigenetic modifications, namely, bisulfite sequencing and quantification of immunoprecipitated DNA after Chromatin Immunoprecipitation (ChIP).

Tabolacci, E., Neri, G., Epigenetic modifications of the FMR1 gene, in Kohwi, Y., Mcmurray, C. T. (ed.), TRINUCLEOTIDE REPEAT PROTOCOLS, Springer, New York 2013: 141- 153. 10.1007/978-1-62703-411-1_10 [http://hdl.handle.net/10807/51362]

Epigenetic modifications of the FMR1 gene

Tabolacci, Elisabetta;
2013

Abstract

The fragile X syndrome (FXS), the most common cause of heritable intellectual disability, is caused by expansion of a CGG repeat located at the 5' UTR of the FMR1 gene and subsequent epigenetic modifications of its promoter. Epigenetic modifications include both methylation of the cytosines of the CpG island in the promoter region and of the expanded CGG triplet, and posttranslational histone changes. The combination of these changes, one structural (expansion) and one epigenetic (methylation and histone modifications), results in transcriptional silencing, even though the coding region of the FMR1 gene remains intact. Here we describe the molecular methods used to study both DNA methylation and histone epigenetic modifications, namely, bisulfite sequencing and quantification of immunoprecipitated DNA after Chromatin Immunoprecipitation (ChIP).
2013
Inglese
TRINUCLEOTIDE REPEAT PROTOCOLS
978-1-62703-410-4
Tabolacci, E., Neri, G., Epigenetic modifications of the FMR1 gene, in Kohwi, Y., Mcmurray, C. T. (ed.), TRINUCLEOTIDE REPEAT PROTOCOLS, Springer, New York 2013: 141- 153. 10.1007/978-1-62703-411-1_10 [http://hdl.handle.net/10807/51362]
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/51362
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 5
  • ???jsp.display-item.citation.isi??? ND
social impact