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- W2052572242 abstract "During early embryogenesis, the phenotype reflecting the embryonic genotype emerges only as maternal proteins are replaced by embryonically encoded forms, a process known as the maternal-to-embryonic transition (MET). Little is understood about MET for most proteins. This study investigates how complete deficiency of the murine dihydrolipoamide dehydrogenase gene (Dld), a gene that encodes an enzyme of mitochondrial energy metabolism, affects the phenotype of the early embryo and how the MET of the DLD protein affects the phenotype. Dld-deficient (-/-) embryos were found to develop similarly to wild-type (+/+) or heterozygous (+/-) embryos throughout the preimplantation period. These three genotypic classes also have comparable rates of glucose uptake (4.9-5.0 pmoles/embryo/h) and lactate production (0.97-1.0 pmoles/embryo/h). Dld-deficient embryos at the end of the preimplantation stage have 44% of DLD enzyme present in oocytes, a proportion similar to that found in +/+ or +/- embryos. This study demonstrates that Dld-deficient preimplantation embryos are phenotypically normal, as the MET for the DLD enzyme is only partially complete by the end of the preimplantation period. These findings have implications for phenotype- or enzyme-based approaches to identify mutations in Dld and other genes that encode proteins with similar MET kinetic profiles." @default.
- W2052572242 created "2016-06-24" @default.
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- W2052572242 date "2009-01-01" @default.
- W2052572242 modified "2023-09-27" @default.
- W2052572242 title "Maternal enzyme masks the phenotype of mouse embryos lacking dihydrolipoamide dehydrogenase" @default.
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- W2052572242 doi "https://doi.org/10.1016/s1472-6483(10)60050-8" @default.
- W2052572242 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3015149" @default.
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