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A polymorphism in New Zealand inbred mouse strains that inactivates phosphatidylcholine transfer protein |
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| Authors: | Pan Huei-Ju Agate Diana S King Benjamin L Wu Michele K Roderick Steven L Leiter Edward H Cohen David E |
| Institution: | Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan. |
| 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. |
| Keywords: | MLV multilamellar vesicle NON nonobese nondiabetic NZO New Zealand obese PC phosphatidylcholine PC-TP PC transfer protein PEMT phosphatidylethanolamine n-methyl transferase PS phosphatidylserine QTL quantitative trait locus SUV small unilamellar vesicle |
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