title: Characterization of copine VII, a new member of the copine family, and its exclusion as a candidate in sporadic breast cancers with loss of heterozygosity at 16q24.3.
abstract: In a search for candidate tumor suppressor genes within a 650-kb common region of loss of heterozygosity (LOH) at 16q24.3 in breast cancer tissues, a 2.6-kb cDNA, named copine VII (CPNE7), was characterized. The gene is 2654 bp and codes for a 633-residue protein with high homology to the other members of the copine family, such as copine I, copine III, and N-copine. The predicted amino acid sequence contains two copies of a C2 domain in the N-terminus. Since these domains have been found in several membrane-binding proteins involved in different intracellular processes, copine VII was viewed as a potential tumor suppressor gene. Mutation analysis was carried out by single-strand conformation polymorphism analysis of 18 breast tumor tissue samples with ascertained LOH on chromosome 16q24.3. Since only two polymorphisms were identified, no evidence was found to indicate that copine VII is the tumor suppressor gene at 16q24.3 involved in breast cancer.
authors.affiliation: Servizio di Genetica Medica, IRCCS Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, I-71013, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Savino
authors.forename: M
authors.initials: M
authors.lastname: d'Apolito
authors.forename: M
authors.initials: M
authors.lastname: Centra
authors.forename: H M
authors.initials: HM
authors.lastname: van Beerendonk
authors.forename: A M
authors.initials: AM
authors.lastname: Cleton-Jansen
authors.forename: S A
authors.initials: SA
authors.lastname: Whitmore
authors.forename: J
authors.initials: J
authors.lastname: Crawford
authors.forename: D F
authors.initials: DF
authors.lastname: Callen
authors.forename: L
authors.initials: L
authors.lastname: Zelante
authors.forename: A
authors.initials: A
authors.lastname: Savoia
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16; D006224:Cricetinae; D004252:DNA Mutational Analysis; D005260:Female; D016147:Genes, Tumor Suppressor; D006801:Humans; D019656:Loss of Heterozygosity; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D008969:Molecular Sequence Data; D018807:Polymorphism, Single-Stranded Conformational; D016415:Sequence Alignment
chemical_list: C400933:CPNE7 protein, human; D008565:Membrane Proteins