A polymorphism in New Zealand inbred mouse strains that inactivates phosphatidylcholine transfer protein.
Document Type
Article
Publication Date
2006
Keywords
Animals, Base-Sequence, Chromosome-Mapping, DNA-Complementary, Male, Mice-Inbred-NZB, Mice-Inbred-Strains, Mice-Obese, Models-Molecular, Phosphatidylcholines, Phospholipid-Transfer-Proteins, Point-Mutation, Polymorphism-Genetic, Protein-Conformation, Species-Specificity
First Page
5953
Last Page
5958
JAX Source
FEBS Lett 2006 Oct; 580(25):5953-8.
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.
Recommended Citation
Pan HJ,
Agate DS,
King BL,
Wu MK,
Roderick SL,
Leiter EH,
Cohen DE.
A polymorphism in New Zealand inbred mouse strains that inactivates phosphatidylcholine transfer protein. FEBS Lett 2006 Oct; 580(25):5953-8.