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

Cristina Capanni, Stefano Squarzoni, Vittoria Cenni, Maria Rosaria D'Apice, Alessandra Gambineri, Giuseppe Novelli, Manfred Wehnert, Renato Pasquali, Nadir M. Maraldi, Giovanna Lattanzi

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)3568-3577
Number of pages10
JournalCell Cycle
Volume11
Issue number19
DOIs
Publication statusPublished - Oct 1 2012

Keywords

  • BAF
  • BANF1
  • EDMD1
  • Lamin A/C
  • Laminopathies, emerin
  • Prelamin A

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology
  • Developmental Biology

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