| Literature DB >> 17046758 |
Huei-Ju Pan1, Diana S Agate, Benjamin L King, Michele K Wu, Steven L Roderick, Edward H Leiter, David E Cohen.
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.Entities:
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Year: 2006 PMID： 17046758 PMCID： PMC1693963 DOI： 10.1016/j.febslet.2006.09.066
Source DB: PubMed Journal: FEBS Lett ISSN： 0014-5793 Impact factor: 4.124