Gl. Mutter et al., OPPOSITELY IMPRINTED GENES-H19 AND INSULIN-LIKE GROWTH FACTOR-II ARE COEXPRESSED IN HUMAN ANDROGENETIC TROPHOBLAST, American journal of human genetics, 53(5), 1993, pp. 1096-1102
Human uniparental gestations such as gynogenetic ovarian teratomas and
androgenetic complete hydatidiform moles provide a model to evaluate
the integrity of parent-specific gene expression-i.e, imprinting-in th
e absence of a complementary parental genetic contribution. We studied
expression, in these tissues, of the oppositely imprinted genes H19,
which is an embryonic nontranslated RNA, and insulin-like growth facto
r type 2 (IGF2). Normal gestations only express H19 from the maternal
allele and express IGF2 from the paternal allele, whereas neither is e
xpressed from the maternal genome of gynogenetic gestations, and both
are expressed from the paternal genome of androgenetic gestations. Coe
xpression of H19 and IGF2 in the androgenetic tissues was in a single
population of cells, mononuclear trophoblast-the same cell type expres
sing these genes in biparental placentas. These results demonstrate th
at a biparental genome may be required for expression of the reciproca
l IGF2/H19 imprint. Alternatively, biparental expression may be a norm
al feature of some imprinted genes in specific cell types. Additional
experiments with other imprinted genes will clarify whether this refle
cts global failure of the imprinting process or a change specific to t
he IGF2/H19 locus.