STRUCTURAL ORGANIZATION AND EXPRESSION OF THE HUMAN PHOSPHATIDYLINOSITOL-SPECIFIC PHOSPHOLIPASE-C BETA-3 GENE

We have cloned and fully sequenced the phospholipase C beta-3 (PLC bet a-3) gene. The gene spans approx. 17 kb and consists of 31 exons and 3 0 introns. Ah intron-exon junctions obey the GT/AG rule. The gene is h ighly expressed in several human tissues including retina, brain and k idney; PLC beta-3 mRNA is detected at a much lower level in liver. Bec ause of its importance in signal transduction, its chromosomal localiz ation 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. (C) 1995 Academi c Press, Inc.