Maternally transmitted severe glucose 6-phosphate dehydrogenase deficiency is an embryonic lethal

Letizia Longo, Olga Camacho Vanegas, Meghavi Patel, Vittorio Rosti, Haiqing Li, John Waka, Taha Merghoub, Pier Paolo Pandolfi, Rosario Notaro, Katia Manova, Lucio Luzzatto

Research output: Contribution to journalArticlepeer-review


Mouse chimeras from embryonic stem cells in which the X-linked glucose 6-phosphate dehydrogenase (G6PD) gene had been targeted were crossed with normal females. First-generation (F1) G6PD(+/-) heterozygotes born from this cross were essentially normal; analysis of their tissues demonstrated strong selection for cells with the targeted G6PD allele on the inactive X chromosome. When these F1 G6PD(+/-) females were bred to normal males, only normal G6PD mice were born, because: (i) hemizygous G6PD(-) male embryos died by E10.5 and their development was arrested from E7.5, the time of onset of blood circulation; (ii) heterozygous G6PD(+/-) females showed abnormalities from E8.5, and died by E11.5; and (iii) severe pathological changes were present in the placenta of both G6PD(-) and G6PD(+/-) embryos. Thus, G6PD is not indispensable for early embryo development; however, severe G6PD deficiency in the extraembryonic tissues (consequent on selective inactivation of the normal paternal G6PD allele) impairs the development of the placenta and causes death of the embryo. Most importantly, G6PD is indispensable for survival when the embryo is exposed to oxygen through its blood supply.

Original languageEnglish
Pages (from-to)4229-4239
Number of pages11
JournalEMBO Journal
Issue number16
Publication statusPublished - Aug 15 2002


  • G6PD deficiency
  • Hemizygotes
  • Heterozygotes
  • Lethality
  • Oxidative damage

ASJC Scopus subject areas

  • Genetics
  • Cell Biology


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