title: Retarded postimplantation development of X0 mouse embryos: impact of the parental origin of the monosomic X chromosome.
abstract: About 12-17% of the embryos obtained by mating mice carrying the In(X)1H or Paf mutations are of the 39,X (X0) genotype. Depending on the mutant mice used for mating, the monosomic X chromosome can be inherited from the paternal (XP) or the maternal (XM) parent. The XP0 embryos display developmental retardation at gastrulation and early organogenesis. XP0 embryos also display poor development of the ectoplacental cone, which is significantly smaller in size and contains fewer trophoblasts than XX siblings. In contrast, XM0 embryos develop normally and are indistinguishable from XX littermates. In both types of X0 embryos, an X-linked lacZ transgene is expressed in nearly all cells in both the embryonic and the extraembryonic tissues, suggesting that X inactivation does not occur when only one X is present. Of particular significance is the maintenance of an active XP chromosome in the extraembryonic tissues where normally the paternal X chromosome is preferentially inactivated in XX embryos. The differential impact of the inheritance of X chromosomes from different parents on the development of the X0 embryos raises the possibility that the XP is less capable than the XM in providing the appropriate dosage of X-linked activity that is necessary to support normal development of the embryo and the ectoplacental cone. Alternatively, the development of the XP0 embryo may be compromised by the lack of activity of one or several X-linked genes which are expressed only from the maternal X chromosome. Without the activity of these genes, embryonic development may be curtailed even though all other loci on the XP chromosome are actively transcribed.
authors.affiliation: Embryology Unit, Children's Medical Research Institute, Wentworthville, New South Wales, 2145, Australia.
authors.forename: R V
authors.initials: RV
authors.lastname: Jamieson
authors.forename: S S
authors.initials: SS
authors.lastname: Tan
authors.forename: P P
authors.initials: PP
authors.lastname: Tam
mesh_terms: D000818:Animals; D003433:Crosses, Genetic; D010064:Embryo Implantation; D005314:Embryonic and Fetal Development / Q000235:genetics*; D005260:Female; D005775:Gastrula / Q000502:physiology*; D018392:Genomic Imprinting; D005838:Genotype; D006903:Hydroxymethylglutaryl CoA Reductases / Q000235:genetics; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D008811:Mice, Inbred DBA; D008817:Mice, Mutant Strains; D008822:Mice, Transgenic; D009006:Monosomy; D010920:Placenta / Q000502:physiology; D011247:Pregnancy; D012045:Regulatory Sequences, Nucleic Acid; D012729:Sex Chromosome Aberrations; D014960:X Chromosome; D014998:Y Chromosome; D001616:beta-Galactosidase / Q000096:biosynthesis / Q000235:genetics
chemical_list: D006903:Hydroxymethylglutaryl CoA Reductases; D001616:beta-Galactosidase