Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts Export

@article{citeulike:1205023, abstract = {10.1073/pnas.0511235103 Fascioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder linked to partial deletion of integral numbers of a 3.3 kb polymorphic repeat, D4Z4, within the subtelomeric region of chromosome 4q. Although the relationship between deletions of D4Z4 and FSHD is well established, how this triggers the disease remains unclear. We have mapped the DNA loop domain containing the D4Z4 repeat cluster in human primary myoblasts and in murine\^{a}€“human hybrids. A nuclear matrix attachment site was found located in the vicinity of the repeat. Prominent in normal human myoblasts and nonmuscular human cells, this site is much weaker in muscle cells derived from FSHD patients, suggesting that the D4Z4 repeat array and upstream genes reside in two loops in nonmuscular cells and normal human myoblasts but in only one loop in FSHD myoblasts. We propose a model whereby the nuclear scaffold/matrix attached region regulates chromatin accessibility and expression of genes implicated in the genesis of FSHD.}, address = {Interactions Mol\'{e}culaires et Cancer, Unit\'{e} Mixte de Recherche 8126, Centre National de la Recherche Scientifique-Universit\'{e} Paris-Sud 11-Institut Gustave-Roussy, F-94805 Villejuif, France.}, author = {Petrov, Andrei and Pirozhkova, Iryna and Carnac, Gilles and Laoudj, Dalila and Lipinski, Marc and Vassetzky, Yegor S.}, citeulike-article-id = {1205023}, citeulike-linkout-0 = {http://dx.doi.org/10.1073/pnas.0511235103}, citeulike-linkout-1 = {http://www.pnas.org/content/103/18/6982.abstract}, citeulike-linkout-2 = {http://www.pnas.org/content/103/18/6982.full.pdf}, citeulike-linkout-3 = {http://view.ncbi.nlm.nih.gov/pubmed/16632607}, citeulike-linkout-4 = {http://www.hubmed.org/display.cgi?uids=16632607}, day = {2}, doi = {10.1073/pnas.0511235103}, issn = {0027-8424}, journal = {Proc Natl Acad Sci U S A}, keywords = {4q35, chromatn, dna\_loop, dna\_organisation, facioscapulohumeral\_dystrophy, human, loop\_domain, myoblast}, month = {May}, number = {18}, pages = {6982--6987}, posted-at = {2007-04-03 22:24:33}, priority = {2}, title = {Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts}, url = {http://dx.doi.org/10.1073/pnas.0511235103}, volume = {103}, year = {2006} }

TY - JOUR ID - citeulike:1205023 L3 - citeulike-article-id:1205023 N2 - 10.1073/pnas.0511235103 Fascioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder linked to partial deletion of integral numbers of a 3.3 kb polymorphic repeat, D4Z4, within the subtelomeric region of chromosome 4q. Although the relationship between deletions of D4Z4 and FSHD is well established, how this triggers the disease remains unclear. We have mapped the DNA loop domain containing the D4Z4 repeat cluster in human primary myoblasts and in murine–human hybrids. A nuclear matrix attachment site was found located in the vicinity of the repeat. Prominent in normal human myoblasts and nonmuscular human cells, this site is much weaker in muscle cells derived from FSHD patients, suggesting that the D4Z4 repeat array and upstream genes reside in two loops in nonmuscular cells and normal human myoblasts but in only one loop in FSHD myoblasts. We propose a model whereby the nuclear scaffold/matrix attached region regulates chromatin accessibility and expression of genes implicated in the genesis of FSHD. IS - 18 JF - Proc Natl Acad Sci U S A SN - 0027-8424 AD - Interactions Moléculaires et Cancer, Unité Mixte de Recherche 8126, Centre National de la Recherche Scientifique-Université Paris-Sud 11-Institut Gustave-Roussy, F-94805 Villejuif, France. EP - 6987 TI - Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts VL - 103 SP - 6982 KW - 4q35 KW - chromatn KW - dna_loop KW - dna_organisation KW - facioscapulohumeral_dystrophy KW - human KW - loop_domain KW - myoblast AU - Petrov, Andrei AU - Pirozhkova, Iryna AU - Carnac, Gilles AU - Laoudj, Dalila AU - Lipinski, Marc AU - Vassetzky, Yegor PY - 2006/05/02/ UR - http://dx.doi.org/10.1073/pnas.0511235103 ER -