Structural Organization and Expression of the Human Phosphatidylinositol-Specific Phospholipase C β-3 Gene

We have cloned and fully sequenced the phospholipase C β-3 (PLC β-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 β-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 β-3 gene is a candidate in several human genetic diseases which, with the present genomic sequence, can now be fully examined.