Role of nucleosome remodeling in neurodevelopmental and intellectual disability disorders.
Role of nucleosome remodeling in neurodevelopmental and intellectual disability disorders.
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DOI：
10.3389/fnbeh.2015.00100
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发表时间：
2015
影响因子：
3
通讯作者：
Wood MA
中科院分区：
文献类型：
--
作者：
López AJ;Wood MA
了解神经发育过程中表观遗传机制如何控制基因表达变得越来越重要。DNA甲基化和组蛋白乙酰化是表观遗传学研究的两个热点。人类外显子组测序和全基因组关联研究已经将几种神经生物学疾病与其产物积极调节DNA甲基化和组蛋白乙酰化的基因联系起来。最近，第三个主要的表观遗传机制，核小体重塑，已被牵连在人类发育和智力残疾（ID）障碍。核小体重塑主要通过核小体重塑复合物与专门的ATP依赖性酶驱动。这些酶直接与DNA或染色质结构以及组蛋白亚基相互作用，以重构核小体定位的形状和组织，从而最终调节基因表达。特别感兴趣的是神经元特异性Brg 1/hBrm相关因子（nBAF）复合物。到目前为止，nBAF亚基基因的突变与Coffin-Siris综合征（CSS），Nicolaides-Baraitser综合征（NBS），精神分裂症和自闭症谱系障碍（ASD）有关。总之，这些人类发育和ID障碍是表观遗传调节对基因表达影响的有力例子。这篇评论的重点是新的和新兴的核小体重塑在神经发育和ID疾病的作用，以及核小体重塑是否影响基因表达所需的认知独立的作用，在调节基因表达所需的发展。
It is becoming increasingly important to understand how epigenetic mechanisms control gene expression during neurodevelopment. Two epigenetic mechanisms that have received considerable attention are DNA methylation and histone acetylation. Human exome sequencing and genome-wide association studies have linked several neurobiological disorders to genes whose products actively regulate DNA methylation and histone acetylation. More recently, a third major epigenetic mechanism, nucleosome remodeling, has been implicated in human developmental and intellectual disability (ID) disorders. Nucleosome remodeling is driven primarily through nucleosome remodeling complexes with specialized ATP-dependent enzymes. These enzymes directly interact with DNA or chromatin structure, as well as histone subunits, to restructure the shape and organization of nucleosome positioning to ultimately regulate gene expression. Of particular interest is the neuron-specific Brg1/hBrm Associated Factor (nBAF) complex. Mutations in nBAF subunit genes have so far been linked to Coffin-Siris syndrome (CSS), Nicolaides-Baraitser syndrome (NBS), schizophrenia, and Autism Spectrum Disorder (ASD). Together, these human developmental and ID disorders are powerful examples of the impact of epigenetic modulation on gene expression. This review focuses on the new and emerging role of nucleosome remodeling in neurodevelopmental and ID disorders and whether nucleosome remodeling affects gene expression required for cognition independently of its role in regulating gene expression required for development.
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影响因子：
25
作者：
Chesi, Alessandra;Staahl, Brett T.;Jovicic, Ana;Couthouis, Julien;Fasolino, Maria;Raphael, Alya R.;Yamazaki, Tomohiro;Elias, Laura;Polak, Meraida;Kelly, Crystal;Williams, Kelly L.;Fifita, Jennifer A.;Maragakis, Nicholas J.;Nicholson, Garth A.;King, Oliver D.;Reed, Robin;Crabtree, Gerald R.;Blair, Ian P.;Glass, Jonathan D.;Gitler, Aaron D.
通讯作者：
Gitler, Aaron D.
DOI：
10.1001/archpedi.1970.02100050435009
发表时间：
1970-01-01
影响因子：
--
作者：
COFFIN, GS;SIRIS, E
通讯作者：
SIRIS, E
影响因子：
64.5
作者：
Bao, Yunhe;Shen, Xuetong
通讯作者：
Shen, Xuetong
影响因子：
4.8
作者：
Aoyagi, S;Wade, PA;Hayes, JJ
通讯作者：
Hayes, JJ
影响因子：
3.6
作者：
Dettmann, Anne;Heilig, Yvonne;Seiler, Stephan
通讯作者：
Seiler, Stephan