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Ddx1 knockout results in transgenerational wild-type lethality in mice
Matthew R Hildebrandt1, Devon R Germain1, Elizabeth A Monckton1
1Department of Oncology, University of Alberta, Cross Cancer Institute, 11560 University Avenue, Edmonton, Alberta T6G 1Z2, Canada.
Scientific Reports
|April 25, 2015
Summary
DEAD box 1 (DDX1) is crucial for embryonic development, as homozygous knockouts are lethal. Intriguingly, a specific heterozygous state causes transgenerational lethality in wild-type offspring, suggesting a novel inheritance mechanism.
Area of Science:
- Molecular Biology
- Developmental Biology
- Genetics
Background:
- DEAD box 1 (DDX1) is an RNA helicase involved in RNA metabolism and various biological processes.
- DDX1 plays roles in mRNA processing, DNA repair, microRNA processing, tRNA maturation, and mRNA transport.
Purpose of the Study:
- To investigate the role of DDX1 in embryonic development using a constitutive Ddx1 knock-out mouse model.
- To analyze the effects of Ddx1 heterozygosity on viability and inheritance patterns.
Main Methods:
- Generation of mice with a constitutive Ddx1 knock-out allele.
- Analysis of Ddx1(-/-) embryo viability and Ddx1(+/-) mouse phenotypes.
- Assessment of wild-type progeny numbers in heterozygote crosses.
Main Results:
- Ddx1(-/-) embryos are non-viable, dying before embryonic day 3.5.
- Heterozygote matings reveal two distinct populations: normal Ddx1(+/-) mice and Ddx1*(/-) mice.
- Ddx1*(/-) mice exhibit a significant reduction in wild-type progeny, indicating transgenerational inheritance of lethality.
Conclusions:
- Complete loss of DDX1 function is embryonic lethal.
- A novel form of transgenerational epigenetic inheritance, independent of parental sex and occurring in cis, is observed in Ddx1*(/-) mice.
- This finding suggests a mechanism distinct from previously reported transgenerational epigenetic inheritance patterns.
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