人类磷脂酰肌醇特异性磷脂酶Cβ-3基因的结构组织与表达

Structural organization and expression of the human phosphatidylinositol-specific phospholipase C beta-3 gene.

作者信息

Mazuruk K, Schoen T J, Chader G J, Rodriguez I R

机构信息

Laboratory of Retinal Cell and Molecular Biology, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

出版信息

Biochem Biophys Res Commun. 1995 Jul 6;212(1):190-5. doi: 10.1006/bbrc.1995.1955.

DOI:10.1006/bbrc.1995.1955

PMID:7612006

Abstract

We have cloned and fully sequenced the phospholipase C beta-3 (PLC beta-3) gene. The gene spans approx. 17 kb and consists of 31 exons and 30 introns. All intron-exon junctions obey the GT/AG rule. The gene is highly expressed in several human tissues including retina, brain and kidney; PLC beta-3 mRNA is detected at a much lower level in liver. Because of its importance in signal transduction, its chromosomal localization and its high expression in CNS and other tissues, the PLC beta-3 gene is a candidate in several human genetic diseases which, with the present genomic sequence, can now be fully examined.

摘要

我们已经克隆了磷脂酶Cβ-3（PLCβ-3）基因并进行了全序列测定。该基因跨度约为17kb，由31个外显子和30个内含子组成。所有内含子-外显子接头均遵循GT/AG规则。该基因在包括视网膜、脑和肾在内的多种人体组织中高度表达；在肝脏中检测到的PLCβ-3 mRNA水平要低得多。由于其在信号转导中的重要性、其染色体定位以及在中枢神经系统和其他组织中的高表达，PLCβ-3基因是几种人类遗传疾病的候选基因，借助目前的基因组序列，现在可以对其进行全面研究。