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Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution

Volume 11, Issue 19   October 1, 2012
Pages 3568 - 3577
http://dx.doi.org/10.4161/cc.21869
Keywords: BAF, BANF1, EDMD1, emerin, lamin A/C, laminopathies, prelamin A
Authors: Cristina Capanni, Stefano Squarzoni, Vittoria Cenni, Maria Rosaria D’Apice, Alessandra Gambineri, Giuseppe Novelli, Manfred Wehnert, Renato Pasquali, Nadir M. Maraldi and Giovanna Lattanzi

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Abstract:
Prelamin A processing impairment is a common feature of a restricted group of rare genetic alterations/disorders associated with a wide range of clinical phenotypes. Changes in histone posttranslational modifications, alterations in non-histone chromatin proteins and chromatin disorganization have been specifically linked to impairment of specific, distinct prelamin A processing steps, but the molecular mechanism involved in these processes is not yet understood . In this study, we show that the accumulation of wild-type prelamin A detected in restrictive dermopathy (RD), as well as the accumulation of mutated forms of prelamin A identified in familial partial lipodystrophy (FPLD) and mandibuloacral dysplasia (MADA), affect the nuclear localization of barrier-to-autointegration factor (BAF), a protein able to link lamin A precursor to chromatin remodeling functions. Our findings, in accordance with previously described results, support the hypothesis of a prelamin A involvement in BAF nuclear recruitment and suggest BAF-prelamin A complex as a protein platform usually activated in prelamin A-accumulating diseases. Finally, we demonstrate the involvement of the inner nuclear membrane protein emerin in the proper localization of BAF-prelamin A complex.

Received: April 30, 2012; Accepted: August 16, 2012; Published Online: August 30, 2012

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