title: Identification of paraoxonase 3 gene (PON3) missense mutations in a population of southern Italy.
abstract: PON gene family includes at least three members termed PON1, PON2 and PON3, and it is mapped on human chromosome 7q21-q22. PON1 and PON3 gene products are constituents of high density lipoprotein (HDL) and have many enzymatic properties and antioxidant activity. PONs are proposed to participate in the prevention of low density lipoprotein (LDL) oxidation. PON1 and PON2 genes have missense polymorphisms, but, to date, no missense variants are reported in PON3 gene. In this work we explored the existence of genetic variants within the PON3 coding sequences. Five point mutations were identified by direct sequencing of genomic DNA derived from 250 randomly selected DNA samples of 1143 blood donors living in southern Italy. Three were silent mutations, while two were missense mutations that give rise to amino acid substitutions at positions 311 (S>T) and 324 (G>D). The missense variations in the DNA of the 1143 samples had frequencies of 0.22% (5 out of 2286 alleles) for the S311T mutation, and 0.57% (13 out of 2286 alleles) for the G324D mutation. The effect of these variants on the metabolic activity of paraoxonase 3 remains to be further evaluated.
authors.affiliation: Department of Biochemical, School of Medicine, University of Messina, Policlinico Universitario, Torre Biologica, 5 degrees Piano, Via C Valeria 1, Messina 98125, Italy. scampo@unime.it
authors.forename: Salvatore
authors.initials: S
authors.lastname: Campo
authors.forename: Adriana M
authors.initials: AM
authors.lastname: Sardo
authors.forename: Giuseppe M
authors.initials: GM
authors.lastname: Campo
authors.forename: Angela
authors.initials: A
authors.lastname: Avenoso
authors.forename: Maria
authors.initials: M
authors.lastname: Castaldo
authors.forename: Angela
authors.initials: A
authors.lastname: D'Ascola
authors.forename: Elena
authors.initials: E
authors.lastname: Giunta
authors.forename: Alberto
authors.initials: A
authors.lastname: Calatroni
authors.forename: Antonino
authors.initials: A
authors.lastname: Saitta
mesh_terms: D000483:Alleles; D043303:Aryldialkylphosphatase; D001483:Base Sequence; D017931:DNA Primers; D004950:Esterases / Q000235:genetics*; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D007558:Italy; D020125:Mutation, Missense
chemical_list: D017931:DNA Primers; D004950:Esterases; D043303:Aryldialkylphosphatase; C113656:PON3 protein, human