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Physiol. Genomics 23: 150-158, 2005. First published July 26, 2005; doi:10.1152/physiolgenomics.00060.2005 Free Article
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Received 10 March 2005; accepted in final form 13 July 2005.
Physiological Genomics 23:150-158 (2005)
American Physiological Society © 2005 American Physiological Society

Article

Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy

Ilaria Filesi 1, Francesca Gullotta 2, Giovanna Lattanzi 3, Maria Rosaria D'Apice 2, Cristina Capanni 4, Anna Maria Nardone 2, Marta Columbaro 4, Gioacchino Scarano 5, Elisabetta Mattioli 4, Patrizia Sabatelli 3, Nadir M. Maraldi 3,4, Silvia Biocca 1 and Giuseppe Novelli 2

1 Laboratory of Clinical Biochemistry and Department of Neuroscience and 2 Laboratory of Medical Genetics, University of Roma Tor Vergata, Rome, Italy; 3 Istituto per i Trapianti d'Organo e l'Immunocitologia, Consiglio Nazionale delle Ricerche, Unit of Bologna, Bologna, Italy; 4 Laboratory of Cell Biology, Istituti Ortopedici Rizzoli, Bologna, Italy; and 5 Medical Genetics Division, Gaetano Rummo Hospital, Benevento, Italy

ABSTRACT

Autosomal recessive mandibuloacral dysplasia [mandibuloacral dysplasia type A (MADA); Online Mendelian Inheritance in Man (OMIM) no. 248370] is caused by a mutation in LMNA encoding lamin A/C. Here we show that this mutation causes accumulation of the lamin A precursor protein, a marked alteration of the nuclear architecture and, hence, chromatin disorganization. Heterochromatin domains are altered or completely lost in MADA nuclei, consistent with the finding that heterochromatin-associated protein HP1ß and histone H3 methylated at lysine 9 and their nuclear envelope partner protein lamin B receptor (LBR) are delocalized and solubilized. Both accumulation of lamin A precursor and chromatin defects become more severe in older patients. These results strongly suggest that altered chromatin remodeling is a key event in the cascade of epigenetic events causing MADA and could be related to the premature-aging phenotype.

LMNA; heterochromatin; heterochromatin protein-1ß; prelamin A




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