Cloning and expression of the human S100 beta gene.
Cloning and expression of the human S100 beta gene.
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人类 S100 β 基因的克隆和表达。
DOI：
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发表时间：
1990
影响因子：
4.8
通讯作者：
Alexander Marks
中科院分区：
文献类型：
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作者：
R. Allore;W. C. Friend;D. O’Hanlon;K. Neilson;R. Baumal;Robert J. Dunn;Alexander Marks
S100蛋白是一种低分子量、EF-手形、Ca 2（+）结合蛋白，广泛存在于脊椎动物中枢神经系统中，具有高度保守性。编码人类S100蛋白β亚基（S100 beta）的基因最近被定位于21号染色体。为了研究该基因在正常和异常脑发育中的表达，我们分离并表征了跨越编码人S100 β及其侧翼序列的区域的重叠基因组克隆。人S100 β基因的内含子-外显子结构与编码EF-手蛋白的S100蛋白亚家族的几个其他成员的基因相似。人S100 β基因由3个外显子组成，其中第一个外显子指定5 '非翻译区，而第二个和第三个外显子各自编码单个EF-手，Ca 2（+）-结合结构域。启动子区含有几个潜在的调控转录元件，包括cAMP反应元件CRE和AP-2。一种新的序列基序，S100蛋白元件，位于靠近TATA盒的几个成员的S100蛋白亚家族的基因，已被确定。此外，在人S100 β启动子中也发现了与最近报道的β珠蛋白直接重复元件具有相似核苷酸序列和位置的多个重复序列。构建人S100 β基因的全长（17.3个内切酶）拷贝，并转染到大鼠胶质瘤C6细胞中。稳定的转染子显示出正确表达人S100 β基因的起始转录物，表明克隆的序列含有功能性调控转录元件。
S100 protein is a low molecular weight, EF-hand, Ca2(+)-binding protein widely distributed and conserved in the central nervous system of vertebrates. The gene coding for the beta subunit of human S100 protein (S100 beta) has been recently mapped to chromosome 21. In order to study the expression of this gene in normal and abnormal brain development, we have isolated and characterized overlapping genomic clones spanning the region coding for human S100 beta and its flanking sequences. The intron-exon organization of the human S100 beta gene is similar to that of the genes coding for several other members of the S100 protein subfamily of EF-hand proteins. The human S100 beta gene is composed of 3 exons, the first of which specifies the 5'-untranslated region, while the second and third each encode a single EF-hand, Ca2(+)-binding domain. The promoter region contains several potential regulatory transcription elements including the cAMP-responsive elements CRE and AP-2. A novel sequence motif, the S100 protein element, situated in close proximity to the TATA box of the genes of several members of the S100 protein subfamily, has been identified. In addition, multiple repeats with similar nucleotide sequence and location to the recently reported beta globin direct repeat elements have been also found in the human S100 beta promoter. A full length (17.3 kilobases) copy of the human S100 beta gene was constructed and transfected into rat glioma C6 cells. Stable transfectants were shown to express correctly initiated transcripts of the human S100 beta gene, indicating that the cloned sequences contain functional regulatory transcription elements.