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DNA polymorphism and epigenetic marks modulate the affinity of a scaffold/matrix attachment region to the nuclear matrix.

Eur J Hum Genet

September 2014

1] UMR 8126, Université Paris Sud, CNRS, Institut de cancérologie Gustave Roussy, Villejuif, France [2] LIA 1066, Laboratoire Franco-Russe de recherche en oncologie, Villejuif, France [3] NK Koltsov Institute of Developmental Biology, RAS, Moscow, Russia.

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.

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