Seven novel sequence variants in the human low density lipoprotein receptor related protein 5 (LRP5) gene.

Minoru Okubo, Asako Horinishi, Dong Ho Kim, Tokuo T. Yamamoto, Toshio Murase

Research output: Contribution to journalArticlepeer-review

35 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)186
Number of pages1
JournalHuman mutation
Volume19
Issue number2
DOIs
Publication statusPublished - 2002 Feb

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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