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A polymorphism in New Zealand inbred mouse strains that inactivates phosphatidylcholine transfer protein
Author(s) -
Pan Huei-Ju,
Agate Diana S.,
King Benjamin L.,
Wu Michele K.,
Roderick Steven L.,
Leiter Edward H.,
Cohen David E.
Publication year - 2006
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/j.febslet.2006.09.066
Subject(s) - phosphatidylcholine , locus (genetics) , gene , biology , genetics , inbred strain , point mutation , mutation , microbiology and biotechnology , phospholipid , membrane
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.