A polymorphism in New Zealand inbred mouse strains that inactivates phosphatidylcholine transfer protein. Academic Article uri icon

Overview

abstract

  • New Zealand obese (NZO/HlLt) male mice develop polygenic diabetes and altered phosphatidylcholine metabolism. The gene encoding phosphatidylcholine transfer protein (PC-TP) is sited within the support interval for Nidd3, a recessive NZO-derived locus on Chromosome 11 identified by prior segregation analysis between NZO/HlLt and NON/Lt. Sequence analysis revealed that the NZO-derived PC-TP contained a non-synonymous point mutation that resulted in an Arg120His substitution, which was shared by the related NZB/BlNJ and NZW/LacJ mouse strains. Consistent with the structure-based predictions, functional studies demonstrated that Arg120His PC-TP was inactive, suggesting that this mutation contributes to the deficiencies in phosphatidylcholine metabolism observed in NZO mice.

publication date

  • October 6, 2006

Research

keywords

  • Mice, Inbred NZB
  • Mice, Obese
  • Phospholipid Transfer Proteins
  • Polymorphism, Genetic

Identity

PubMed Central ID

  • PMC1693963

Scopus Document Identifier

  • 33751015133

PubMed ID

  • 17046758

Additional Document Info

volume

  • 580

issue

  • 25