TY - JOUR
T1 - Recent assembly of an imprinted domain from non-imprinted components
AU - Rapkins, R.W.
AU - Hore, T.
AU - Smithwick, M.
AU - Ager, E.
AU - Pask, A.J.
AU - Renfree, M.B.
AU - Kohn, M.
AU - Hameister, H.
AU - Nicholls, R.D.
AU - Deakin, J.E.
AU - Marshall Graves, J.A.
N1 - cited By 44
PY - 2006
Y1 - 2006
N2 - 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 (Prader-Willi syndrome), which had duplicated from the non-imprinted SNRPB/B′. This region independently acquired several retroposed gene copies and arrays of small nucleolar RNAs from different parts of the genome. In their original configurations, SNRPN and UBE3A are expressed from both alleles, implying that acquisition of imprinting occurred after their rearrangement and required the evolution of a control locus. Thus, the evolution of imprinting in viviparous mammals is ongoing.
AB - 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 (Prader-Willi syndrome), which had duplicated from the non-imprinted SNRPB/B′. This region independently acquired several retroposed gene copies and arrays of small nucleolar RNAs from different parts of the genome. In their original configurations, SNRPN and UBE3A are expressed from both alleles, implying that acquisition of imprinting occurred after their rearrangement and required the evolution of a control locus. Thus, the evolution of imprinting in viviparous mammals is ongoing.
UR - https://www.scopus.com/inward/record.uri?eid=2-s2.0-33750430830&doi=10.1371%2fjournal.pgen.0020182&partnerID=40&md5=8f938b1ae83c7262daa500fd73de6fcd
U2 - 10.1371/journal.pgen.0020182
DO - 10.1371/journal.pgen.0020182
M3 - Article
SN - 1553-7390
VL - 2
SP - 1666
EP - 1675
JO - PLoS Genetics
JF - PLoS Genetics
IS - 10
ER -