Tetraploid embryos rescue embryonic lethality caused by an additional maternally inherited X chromosome in the mouse.
Mouse embryos with an additional maternally inherited X chromosome, i.e., disomic for XM (DsXM), cease to grow early in development and have a deficient extraembryonic region. We hypothesized that the underdeveloped extraembryonic region is attributed to two copies of XM that escape inactivation due to maternal imprinting. To examine the validity of this hypothesis and throw more light on the significance of X chromosome dosage on cell differentiation, we generated DsXM(XMXMXP and XMXMY) embryos at a high frequency taking advantage of the elevated incidence of X chromosome nondisjunction in female mice heterozygous for two Robertsonian X-autosome translocations, Rb(X.2)2Ad and Rb(X.9)6H. Although two XM chromosomes seem to remain active in both trophectoderm and primitive endoderm, detailed histological examination showed that the polar trophectoderm derivatives (ectoplacental cone and extraembryonic ectoderm) are severely affected, but the primitive endoderm derivatives (visceral and parietal endoderm) are relatively unaffected. Successful rescue of DsXM embryos by aggregation with tetraploid embryos show that X chromosome inactivation occurred normally leaving one X active in epiblast derivatives. Thus, two copies of active XM chromosome in cells of the polar trophectoderm cell lineage seem to be the main cause of early lethality shown by DsXM embryos as a result of failure in formation of ectoplacental cone and extraembryonic ectoderm.
Division of Bioscience, Graduate School of Environmental Earth Science, and Research Center for Molecular Genetics, Hokkaido University, Sapporo 0600810, Japan.
Y
Y
Goto
N
N
Takagi
D000782:Aneuploidy; D000818:Animals; D002678:Chimera / Q000235:genetics; D000013:Congenital Abnormalities / Q000196:embryology / Q000235:genetics / Q000473:pathology; D004303:Dosage Compensation, Genetic; D005314:Embryonic and Fetal Development / Q000235:genetics*; D005260:Female; D005313:Fetal Death / Q000196:embryology / Q000235:genetics* / Q000473:pathology; D018392:Genomic Imprinting; D005865:Gestational Age; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D008808:Mice, Inbred CBA; D010641:Phenotype; D011123:Polyploidy; D011247:Pregnancy; D014178:Translocation, Genetic; D014960:X Chromosome / Q000235:genetics*