Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution.
Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution.
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DOI：
10.4161/cc.21869
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发表时间：
2012-10-01
期刊：
影响因子：
--
通讯作者：
Lattanzi G
中科院分区：
文献类型：
--
作者：
Capanni C;Squarzoni S;Cenni V;D'Apice MR;Gambineri A;Novelli G;Wehnert M;Pasquali R;Maraldi NM;Lattanzi G
前体蛋白A加工损伤是与广泛的临床表型相关的一组有限的罕见遗传改变/疾病的共同特征。组蛋白翻译后修饰的变化、非组蛋白染色质蛋白的改变和染色质解体与特定的、不同的前层蛋白A加工步骤的损伤有明确的联系，但这些过程中涉及的分子机制尚未了解。在这项研究中，我们发现，在限制性皮肤病（RD）检测到的野生型前层蛋白A的积累，以及在家族性部分脂肪营养不良（FPLD）和mandibuloacral发育不良（MADA）中鉴定的前层蛋白A的突变形式的积累，影响了自整合屏障因子（BAF）的核定位，BAF是一种能够将层蛋白A前体与染色质重塑功能联系起来的蛋白质。我们的研究结果，根据先前描述的结果，支持假设的前层蛋白A参与BAF核招聘，并建议BAF-前层蛋白A复合物作为一个蛋白质平台，通常激活前层蛋白A积累的疾病。最后，我们证明了在适当的本地化的BAF-前层蛋白A复合物的内核膜蛋白emerin的参与。
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.
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影响因子：
4
作者：
Brachner A;Braun J;Ghodgaonkar M;Castor D;Zlopasa L;Ehrlich V;Jiricny J;Gotzmann J;Knasmüller S;Foisner R
通讯作者：
Foisner R
DOI：
10.1093/gerona/62.1.3
发表时间：
2007-01-01
影响因子：
5.1
作者：
Halaschek-Wiener, Julius;Brooks-Wilson, Angela
通讯作者：
Brooks-Wilson, Angela
影响因子：
7.7
作者：
Gulbagci, Neriman Tuba;Li, Li;Taneja, Reshma
通讯作者：
Taneja, Reshma
影响因子：
4.6
作者：
Filesi, I;Gullotta, F;Novelli, G
通讯作者：
Novelli, G
影响因子：
3.7
作者：
de Oca, Rocio Montes;Andreassen, Paul R.;Wilson, Katherine L.
通讯作者：
Wilson, Katherine L.