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Kisseljova N.P.,University Paris - Sud | Dmitriev P.,University Paris - Sud | Dmitriev P.,Laboratoire Franco Russe Of Recherche En Oncologie | Dmitriev P.,French Institute of Health and Medical Research | And 18 more authors.
European Journal of Human Genetics | Year: 2014

Mechanisms that regulate attachment of the scaffold/matrix attachment regions (S/MARs) to the nuclear matrix remain largely unknown. We have studied the effect of simple sequence length polymorphism (SSLP), DNA methylation and chromatin organization in an S/MAR implicated in facioscapulohumeral dystrophy (FSHD), a hereditary disease linked to a partial deletion of the D4Z4 repeat array on chromosome 4q. This FSHD-related nuclear matrix attachment region (FR-MAR) loses its efficiency in myoblasts from FSHD patients. Three criteria were found to be important for high-Affinity interaction between the FR-MAR and the nuclear matrix: the presence of a specific SSLP haplotype in chromosomal DNA, the methylation of one specific CpG within the FR-MAR and the absence of histone H3 acetylated on lysine 9 in the relevant chromatin fragment. © 2014 Macmillan Publishers Limited. All rights reserved. Source

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