Kj. Mclaughlin et al., MOUSE EMBRYOS WITH PATERNAL DUPLICATION OF AN IMPRINTED CHROMOSOME-7 REGION DIE AT MIDGESTATION AND LACK PLACENTAL SPONGIOTROPHOBLAST, Development, 122(1), 1996, pp. 265-270
Imprinted genomic regions have been defined by the production of mice
with uniparental inheritance or duplication of homologous chromosome r
egions, With most of the genome investigated, paternal duplication of
only distal chromosomes 7 and 12 results in the lack of offspring, and
prenatal lethality is presumed, Aberrant expression of imprinted gene
s in these two autosomal regions is therefore strongly implicated in t
he periimplantation lethality of androgenetic embryos. We report that
mouse embryos with paternal duplication of distal chromosome 7 (PatDup
.d7) die at midgestation and lack placental spongiotrophoblast, Thus,
the much earlier death of androgenones must involve paternal duplicati
on of other autosomal regions, acting independently of or synergistica
lly with PatDup.d7. The phenotype observed is similar, if not identica
l to, that resulting from mutation of the imprinted distal chromosome
7 gene, Mash2, which in normal midgestation embryos exhibits spongiotr
ophoblast-specific maternally active/paternally inactive (m(+)/p(-)) a
llelic expression, Thus, the simplest explanation for the PatDup.d7 ph
enotype is p(-)/p(-) expression of this gene. We also confirm that Pat
Dup.d7 embryos lack H19 RNA and possess excess Igf2 RNA as might be ex
pected from the parental-specific activities of these genes in normal
embryos.