title: Exclusion of the phosphoinositide-specific phospholipase C beta 3 (PLCB3) gene as a candidate for multiple endocrine neoplasia type 1.
abstract: The predisposing genetic defect in multiple endocrine neoplasia type 1 has been assigned to chromosomal region 11q13. Our previous attempts to identify the MEN1 gene have resulted in the isolation of the phospholipase C beta 3 gene from the actual region. PLCB3 plays an important role in signal transduction and, moreover, shows loss of expression in some endocrine tumors, in accordance with a putative tumor suppressor gene function, and thus appears to be an excellent candidate for MEN1. We have therefore undertaken screening for constitutional mutations in individuals from MEN1 families. Several sequence alterations have been discovered, none of them however fulfilling the criteria for a disease-related mutation. We can now exclude PLCB3 from candidacy as the MEN1 gene.
authors.affiliation: Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden.
authors.forename: G
authors.initials: G
authors.lastname: Weber
authors.forename: S
authors.initials: S
authors.lastname: Grimmond
authors.forename: J
authors.initials: J
authors.lastname: Lagercrantz
authors.forename: E
authors.initials: E
authors.lastname: Friedman
authors.forename: C
authors.initials: C
authors.lastname: Phelan
authors.forename: E
authors.initials: E
authors.lastname: Carson
authors.forename: N
authors.initials: N
authors.lastname: Hayward
authors.forename: O
authors.initials: O
authors.lastname: Jacobovitz
authors.forename: M
authors.initials: M
authors.lastname: Nordenskjöld
authors.forename: C
authors.initials: C
authors.lastname: Larsson
mesh_terms: D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D004252:DNA Mutational Analysis; D017931:DNA Primers; D006801:Humans; D007438:Introns; D007527:Isoenzymes / Q000096:biosynthesis / Q000235:genetics*; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics*; D054799:Phospholipase C beta; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D012333:RNA, Messenger / Q000378:metabolism; D010738:Type C Phospholipases / Q000096:biosynthesis / Q000235:genetics*
chemical_list: D017931:DNA Primers; D007527:Isoenzymes; D012333:RNA, Messenger; D010738:Type C Phospholipases; C518039:PLCB3 protein, human; D054799:Phospholipase C beta