PMID- 12213492 OWN - NLM STAT- MEDLINE DCOM- 20021029 LR - 20190610 IS - 0006-3002 (Print) IS - 0006-3002 (Linking) VI - 1584 IP - 1 DP - 2002 Sep 5 TI - Molecular characterization of the human PLC beta1 gene. PG - 46-54 AB - Inositide-specific phospholipase C (PLC) signaling constitutes a central intermediate in a number of cellular functions among which the control of cell growth raises a particular interest. Indeed, we have previously shown that nuclear phospholipase C beta1 (PLC beta1) is central for the regulation of mitogen-induced cell growth. We have also assigned by fluorescence in situ hybridization (FISH) analysis the PLC beta1 to human chromosome 20p12. In this study, we have carried out a detailed analysis of the human gene, showing the existence of alternative splicing, which gives rise, besides the two forms (1a and 1b) already shown in rodents, to a new 600 bp smaller form coding for a 110 kDa protein. We have also identified a new exon at the 5', showing no homology with the rodent sequence. Here we provide the complete determination of the exon/intron structure of the gene spanning 250 kb of DNA. We found that the exons are quite small, ranging from 49 to 222 bp, while the introns vary between 108 bp and 34,400 bp. The availability of the understanding of the genome organization of this inositide-specific PLC, which represents a key step of the cell cycle related signaling, could actually pave the way for further genetic analysis of p12 region of human chromosome 20 in diseases involving alterations of the control of cell growth such as malignancies. FAU - Peruzzi, Daniela AU - Peruzzi D AD - Department of Anatomical Sciences, Cellular Signalling Laboratory, University of Bologna, Via Irnerio, 48, I-40126 Bologna, Italy. FAU - Aluigi, Michela AU - Aluigi M FAU - Manzoli, Lucia AU - Manzoli L FAU - Billi, Anna Maria AU - Billi AM FAU - Di Giorgio, Francesco Paolo AU - Di Giorgio FP FAU - Morleo, Manuela AU - Morleo M FAU - Martelli, Alberto M AU - Martelli AM FAU - Cocco, Lucio AU - Cocco L LA - eng PT - Comparative Study PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - Netherlands TA - Biochim Biophys Acta JT - Biochimica et biophysica acta JID - 0217513 RN - 0 (3' Untranslated Regions) RN - 0 (5' Untranslated Regions) RN - 0 (DNA, Complementary) RN - 0 (Isoenzymes) RN - EC 3.1.4.- (Type C Phospholipases) RN - EC 3.1.4.11 (PLCB1 protein, human) RN - EC 3.1.4.11 (Phospholipase C beta) SB - IM MH - 3' Untranslated Regions MH - 5' Untranslated Regions MH - Adult MH - Alternative Splicing MH - Base Sequence MH - Blotting, Northern MH - Blotting, Western MH - Cloning, Molecular MH - DNA, Complementary/biosynthesis/chemistry MH - Fetus MH - Gene Amplification MH - Humans MH - Isoenzymes/chemistry/*genetics MH - Molecular Sequence Data MH - Phospholipase C beta MH - Promoter Regions, Genetic MH - Transfection MH - Type C Phospholipases/chemistry/*genetics EDAT- 2002/09/06 10:00 MHDA- 2002/10/31 04:00 CRDT- 2002/09/06 10:00 PHST- 2002/09/06 10:00 [pubmed] PHST- 2002/10/31 04:00 [medline] PHST- 2002/09/06 10:00 [entrez] AID - S138819810200269X [pii] AID - 10.1016/s1388-1981(02)00269-x [doi] PST - ppublish SO - Biochim Biophys Acta. 2002 Sep 5;1584(1):46-54. doi: 10.1016/s1388-1981(02)00269-x.