title: Seven novel sequence variants in the human low density lipoprotein receptor related protein 5 (LRP5) gene.
abstract: We identified seven novel polymorphisms in the human low density lipoprotein receptor related protein 5 (LRP5) gene. Two of them are predicted to replace amino acid in LRP5 protein (c.314A>G: Q89R and c.4037T>C: V1330A), whereas three are silent mutations in the coding region (c.2268T>C: N740N, c.3405A>G: V1119V, and c.4137C>T: D1363D) and two are polymorphisms in introns (IVS10+6T>C and IVS17-30G>A). Since LRP5 recognizes apolipoprotein E and is genetically linked with type 1 diabetes, these novel polymorphisms will be useful in genetic studies of hyperlipoproteinemia and diabetes. To our knowledge, this is the first report in the literature of sequence variants in the human LRP5 gene.
authors.affiliation: Department of Endocrinology and Metabolism, Okinaka Memorial Institute for Medical Research and Toranomon Hospital, Tokyo, Japan. QFG00550@nifty.ne.jp
authors.forename: Minoru
authors.initials: M
authors.lastname: Okubo
authors.forename: Asako
authors.initials: A
authors.lastname: Horinishi
authors.forename: Dong-Ho
authors.initials: DH
authors.lastname: Kim
authors.forename: Tokuo T
authors.initials: TT
authors.lastname: Yamamoto
authors.forename: Toshio
authors.initials: T
authors.lastname: Murase
mesh_terms: D004252:DNA Mutational Analysis; D003920:Diabetes Mellitus / Q000235:genetics; D005091:Exons / Q000235:genetics; D005787:Gene Frequency / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D006951:Hyperlipoproteinemias / Q000235:genetics*; D007438:Introns / Q000235:genetics; D026502:LDL-Receptor Related Proteins; D060492:Low Density Lipoprotein Receptor-Related Protein-5; D009154:Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D026502:LDL-Receptor Related Proteins; C555482:LRP5 protein, human; D060492:Low Density Lipoprotein Receptor-Related Protein-5; D011973:Receptors, LDL