Imprint switch mechanism indicated by mutations in Prader-Willi and Angelman syndromes

BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology
G Kelsey, W Reik

Abstract

Genomic imprinting is an epigenetic mechanism resulting in the preferential expression of the maternal or paternal alleles of a specific subset of genes in the mammalian genome. A key but relatively unexplored question is how imprints are established in the germline. New observations on two classical imprinting disorders, the Prader-Willi (PWS) and Angelman (AS) syndromes, offer the first genetic insight into this process. Molecular analysis of imprinting mutations that interfere with the appropriate establishment of the maternal and paternal epigenotypes has led to the identification of imprinted transcripts that could be involved in switching imprints in the germlines.

References

Nov 1, 1995·Developmental Biology·A J VillarR A Pedersen
Jul 1, 1994·Journal of Medical Genetics·M Elliott, E R Maher
Dec 1, 1993·Human Molecular Genetics·C C GlennD J Driscoll
Jul 23, 1996·Proceedings of the National Academy of Sciences of the United States of America·S SaitohR D Nicholls
Oct 1, 1996·Nature Genetics·A C Ferguson-Smith
Jan 1, 1997·Nature Genetics·T KishinoJ Wagstaff

❮ Previous
Next ❯

Citations

Aug 5, 1998·Current Opinion in Genetics & Development·Y JiangA L Beaudet
Jun 4, 1998·Current Opinion in Genetics & Development·W Reik, J Walter
Oct 12, 2018·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Audrey PoupeauRomain Barrès
Sep 29, 1998·Genome Research·M ConstânciaW Reik

❮ Previous
Next ❯

Related Concepts

Related Feeds

Angelman Syndrome

Angelman syndrome is a neurogenetic imprinting disorder caused by loss of the maternally inherited UBE3A gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Here is the latest research.

Related Papers

Proceedings of the National Academy of Sciences of the United States of America
F LykoR Paro
Biotechnology & Genetic Engineering Reviews
Isao IshidaYoshimi Kuroiwa
Journal of Medical Genetics
R J TrentA Smith
© 2021 Meta ULC. All rights reserved