Lagercrantz J, Carson E, Phelan C, Grimmond S, Rosén A, Daré E, Nordenskjöld M, Hayward N K, Larsson C, Weber G
Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden.
Genomics. 1995 Apr 10;26(3):467-72. doi: 10.1016/0888-7543(95)80164-h.
We have characterized the complete cDNA sequence, genomic structure, and expression of the human phosphoinositide-specific phospholipase C beta 3 (PLC beta 3) gene (gene symbol PLCB3). PLC beta 3 plays an important role in initiating receptor-mediated signal transduction. Activation of PLC takes place in many cells as a response to stimulation by hormones, growth factors, neurotransmitters, and other ligands. The partial cDNA sequence of PLC beta 3, previously published, was extended with 876 bp in the 5' direction, giving a transcript of 4400 bp and a total open reading frame of 1234 amino acids. This was in accordance with expression analysis by Northern blotting that revealed a single 4.4-kb transcript in all tissues tested. Genomic data were obtained by sequencing plasmid subclones of a cosmid that contained the whole gene. The size of the complete transcription unit was estimated to be on the order of 15 kb. The gene contains 31 exons, with all splice donor and acceptor sites conforming to the GT/AG rule. No exon exceeds 571 bp in length, and the shortest exon spans only 36 bp. More than half of the introns are smaller than 200 bp, with the smallest being only 79 bp long. The transcription initiation site was determined to be within an 8-bp cluster 328-321 bp upstream of the translation initiation site. The 5'flanking region is highly GC rich, with multiple CpG doublets, and contains multiple binding sites for Sp1. Lacking typical transcriptional regulatory sequences such as TATA and CAAT boxes, the putative promoter region conforms to the group of housekeeping promoters.
我们已经对人磷酸肌醇特异性磷脂酶Cβ3(PLCβ3)基因(基因符号PLCB3)的完整cDNA序列、基因组结构及表达情况进行了特征分析。PLCβ3在启动受体介导的信号转导过程中发挥重要作用。PLC的激活在许多细胞中作为对激素、生长因子、神经递质及其他配体刺激的反应而发生。之前发表的PLCβ3部分cDNA序列在5'方向上延伸了876 bp,产生了一个4400 bp的转录本和一个由1234个氨基酸组成的完整开放阅读框。这与Northern印迹法的表达分析结果一致,该分析显示在所有检测的组织中均有一个单一的4.4 kb转录本。通过对包含整个基因的黏粒的质粒亚克隆进行测序获得了基因组数据。完整转录单位的大小估计约为15 kb。该基因包含31个外显子,所有剪接供体和受体位点均符合GT/AG规则。没有一个外显子长度超过571 bp,最短的外显子仅跨越36 bp。超过一半的内含子小于200 bp,最小的仅79 bp长。转录起始位点被确定在翻译起始位点上游328 - 321 bp处的一个8 bp簇内。5'侧翼区域富含GC,有多个CpG双联体,并且包含多个Sp1结合位点。缺乏典型的转录调控序列如TATA盒和CAAT盒,推测的启动子区域符合管家启动子组的特征。