Abstract
MOUSE embryos with duplications of whole maternal (partheno-genetic and gynogenetic) or paternal (androgenetic) genomes show reciprocal phenotypes and do not develop to term1,2. Genetic complementation has identified the distal region of chromosome 7 (Chr 7) as one of the regions for which both a maternal and paternal chromosome copy are essential for normal development, presumably because of the presence of imprinted genes whose expression is dependent on their parental origin3,4. Embryos with the maternal duplication and paternal deficiency of distal Chr 7 are growth retarded and die around day 16 of gestation; the reciprocal paternal duplication embryos die at an unidentified earlier stage4. We report here the incorporation of cells with the paternal duplication into chimaeras, resulting in a striking growth enhancement of the embryos. One gene located on mouse distal Chr 7 (ref. 5) is the insulin-like growth factor 2 (Igf2) gene, an embryonic mitogen6. In embryos with the maternal duplication of distal Chr 7, the two maternal alleles of the Igf2 gene are repressed. The presence of two paternal alleles of this gene in many cells is probably responsible for the growth enhancement observed in chimaeras. We propose that there are other imprinted genes in this Chr 7 region. We also compare the imprinting of this sub-genomic region with phenotypes resulting from the duplication of the whole parental genome in parthenogenones and androgenones.
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Ferguson-Smith, A., Cattanach, B., Barton, S. et al. Embryological and molecular investigations of parental imprinting on mouse chromosome 7. Nature 351, 667–670 (1991). https://doi.org/10.1038/351667a0
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DOI: https://doi.org/10.1038/351667a0