title: Structural organization and expression of the human phosphatidylinositol-specific phospholipase C beta-3 gene.
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.
authors.affiliation: Laboratory of Retinal Cell and Molecular Biology, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
authors.forename: K
authors.initials: K
authors.lastname: Mazuruk
authors.forename: T J
authors.initials: TJ
authors.lastname: Schoen
authors.forename: G J
authors.initials: GJ
authors.lastname: Chader
authors.forename: I R
authors.initials: IR
authors.lastname: Rodriguez
mesh_terms: D000818:Animals; D001482:Base Composition; D001483:Base Sequence; D001921:Brain / Q000201:enzymology; D003001:Cloning, Molecular; D017931:DNA Primers; D005091:Exons; D015870:Gene Expression; D015186:Hominidae / Q000235:genetics*; D006801:Humans; D007438:Introns; D007527:Isoenzymes / Q000096:biosynthesis / Q000235:genetics*; D007668:Kidney / Q000201:enzymology; D008099:Liver / Q000201:enzymology; D008969:Molecular Sequence Data; D009928:Organ Specificity; D043265:Phosphatidylinositol Diacylglycerol-Lyase; D054801:Phosphoinositide Phospholipase C; D010727:Phosphoric Diester Hydrolases / Q000096:biosynthesis* / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000032:analysis / Q000096:biosynthesis; D012160:Retina / Q000201:enzymology; D015398:Signal Transduction
chemical_list: D017931:DNA Primers; D007527:Isoenzymes; D012333:RNA, Messenger; D010727:Phosphoric Diester Hydrolases; D054801:Phosphoinositide Phospholipase C; D043265:Phosphatidylinositol Diacylglycerol-Lyase