Evolution of the Prader-Willi/Angelman Syndrome Imprinted Domain
Author Information
Author(s): Robert W. Rapkins, Tim Hore, Megan Smithwick, Eleanor Ager, Andrew J. Pask, Marilyn B. Renfree, Matthias Kohn, Horst Hameister, Robert D. Nicholls, Janine E. Deakin, Jennifer A. Marshall Graves
Primary Institution: Australian National University
Hypothesis
How and why did genomic imprinting evolve in mammals?
Conclusion
The PWS-AS imprinted region was assembled relatively recently from non-imprinted components in a mammalian ancestor.
Supporting Evidence
- The PWS-AS genes are located on different chromosomes in kangaroos and platypus.
- Imprinting of UBE3A and SNRPN is not observed in marsupials and monotremes.
- The arrangement of PWS-AS genes differs significantly between placental mammals and their ancestors.
Takeaway
Some genes in humans only work if they come from one parent, and this study found out how those genes changed over time in mammals.
Methodology
The study involved comparing gene arrangements and expressions in humans, marsupials, and monotremes.
Limitations
The conclusions are based on limited expression data from only three of the ~80 genes imprinted in placental mammals.
Participant Demographics
The study involved tammar wallabies and platypuses.
Digital Object Identifier (DOI)
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