Rodriguez P, Munroe D, Prawitt D, Chu L L, Bric E, Kim J, Reid L H, Davies C, Nakagama H, Loebbert R, Winterpacht A, Petruzzi M J, Higgins M J, Nowak N, Evans G, Shows T, Weissman B E, Zabel B, Housman D E, Pelletier J
Department of Biochemistry, McGill University, Montreal, Quebec, Canada.
Genomics. 1997 Sep 15;44(3):253-65. doi: 10.1006/geno.1997.4868.
Histones are thought to play a key role in regulating gene expression at the level of DNA packaging. Recent evidence suggests that transcriptional activation requires competition of transcription factors with histones for binding to regulatory regions and that there may be several mechanisms by which this is achieved. We have characterized a human nucleosome assembly protein, NAP-2, previously identified by positional cloning at 11p15.5, a region implicated in several disease processes including Wilms tumor (WT) etiology. The deduced amino acid sequence of NAP-2 indicates that it encodes a protein with a potential nuclear localization motif and two clusters of highly acidic residues. Functional analysis of recombinant NAP-2 protein purified from Escherichia coli demonstrates that this protein can interact with both core and linker histones. We demonstrate that recombinant NAP-2 can transfer histones onto naked DNA templates. Deletion mutagenesis of NAP-2 demonstrates that both NH3- and COOH-terminal domains are required for histone transfer activity. Subcellular localization studies of NAP-2 indicate that it can shuttle between the cytoplasm and the nucleus, suggesting a role as a histone chaperone. Given the potential role of the human NAP-2 gene (HGMW-approved symbol NAP1L4) in WT etiology, we have elucidated the exon/intron structure of this gene and have analyzed the mutational status of NAP-2 in sporadic WTs. Our results, coupled with tumor suppression assays in G401 WT cells, do not support a role for NAP-2 in the etiology of WT. A putative role for NAP-2 in regulating cellular differentiation is discussed.
组蛋白被认为在DNA包装水平上调节基因表达中起关键作用。最近的证据表明,转录激活需要转录因子与组蛋白竞争结合调控区域,并且可能有几种实现这一过程的机制。我们已经鉴定了一种人类核小体组装蛋白NAP-2,它先前是通过定位克隆在11p15.5处鉴定出来的,该区域与包括威尔姆斯瘤(WT)病因在内的多种疾病过程有关。NAP-2推导的氨基酸序列表明它编码一种具有潜在核定位基序和两个高酸性残基簇的蛋白质。对从大肠杆菌中纯化的重组NAP-2蛋白的功能分析表明,该蛋白可以与核心组蛋白和连接组蛋白相互作用。我们证明重组NAP-2可以将组蛋白转移到裸DNA模板上。NAP-2的缺失诱变表明,组蛋白转移活性需要NH3-末端和COOH-末端结构域。NAP-2的亚细胞定位研究表明它可以在细胞质和细胞核之间穿梭,表明其作为组蛋白伴侣的作用。鉴于人类NAP-2基因(HGMW批准的符号NAP1L4)在WT病因中的潜在作用,我们已经阐明了该基因的外显子/内含子结构,并分析了散发性WT中NAP-2的突变状态。我们的结果,加上在G401 WT细胞中的肿瘤抑制试验,不支持NAP-2在WT病因中的作用。讨论了NAP-2在调节细胞分化中的假定作用。