DNA polymorphism and epigenetic marks modulate the affinity of a scaffold/matrix attachment region to the nuclear matrix.
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.
1] NN Blokhin Russian Cancer Research Center, RAMS, Moscow, Russia [2] UMR 8126, Université Paris Sud, CNRS, Institut de cancérologie Gustave Roussy, Villejuif, France.
Natalia P
NP
Kisseljova
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] INSERM U1046, Montpellier, France.
Petr
P
Dmitriev
NN Blokhin Russian Cancer Research Center, RAMS, Moscow, Russia.
Alexey
A
Katargin
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.
Elena
E
Kim
1] NN Blokhin Russian Cancer Research Center, RAMS, Moscow, Russia [2] UMR 8126, Université Paris Sud, CNRS, Institut de cancérologie Gustave Roussy, Villejuif, France.
Daria
D
Ezerina
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.
Diana
D
Markozashvili
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.
Daria
D
Malysheva
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.
Emmeline
E
Planche
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Richard J L F
RJ
Lemmers
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Silvère M
SM
van der Maarel
INSERM U1046, Montpellier, France.
Dalila
D
Laoudj-Chenivesse
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.
Marc
M
Lipinski
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.
Yegor S
YS
Vassetzky
D000107:Acetylation; D000328:Adult; D001483:Base Sequence; D045744:Cell Line, Tumor; D002478:Cells, Cultured; D002843:Chromatin / Q000378:metabolism; D018899:CpG Islands; D019175:DNA Methylation; D044127:Epigenesis, Genetic; D005260:Female; D006657:Histones / Q000378:metabolism; D006801:Humans; D008297:Male; D045170:Matrix Attachment Regions / Q000235:genetics*; D018895:Microsatellite Repeats / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000235:genetics*; D032446:Myoblasts / Q000378:metabolism; D015530:Nuclear Matrix / Q000378:metabolism*; D011110:Polymorphism, Genetic; D011485:Protein Binding
D002843:Chromatin; D006657:Histones