Journal article

Recent assembly of an imprinted domain from non-imprinted components

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

PLOS GENETICS | PUBLIC LIBRARY SCIENCE | Published : 2006

Abstract

Genomic imprinting, representing parent-specific expression of alleles at a locus, raises many questions about how--and especially why--epigenetic silencing of mammalian genes evolved. We present the first in-depth study of how a human imprinted domain evolved, analyzing a domain containing several imprinted genes that are involved in human disease. Using comparisons of orthologous genes in humans, marsupials, and the platypus, we discovered that the Prader-Willi/Angelman syndrome region on human Chromosome 15q was assembled only recently (105-180 million years ago). This imprinted domain arose after a region bearing UBE3A (Angelman syndrome) fused with an unlinked region bearing SNRPN (Prad..

View full abstract