Genomic imprinting of Mash2, a mouse gene required for trophoblast development

F Guillemot, T Caspary, S M Tilghman, N G Copeland, D J Gilbert, N A Jenkins, D J Anderson, A L Joyner, J Rossant, A Nagy
Nature Genetics 1995, 9 (3): 235-42
The mouse gene Mash2 encodes a transcription factor required for development of trophoblast progenitors. Mash2-homozygous mutant embryos die at 10 days postcoitum from placental failure. Here we show that Mash2 is genomically imprinted. First, Mash2+/- embryos inheriting a wild-type allele from their father die at the same stage as -/- embryos, with a similar placental phenotype. Second, the Mash2 paternal allele is initially expressed by groups of trophoblast cells at 6.5 and 7.5 days post-coitum, but appears almost completely repressed by 8.5 days post-coitum. Finally, we have genetically and physically mapped Mash2 to the distal region of chromosome 7, within a cluster of imprinted genes, including insulin-2, insulin-like growth factor-2 and H19.


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