PUBLICATION
Recent assembly of an imprinted domain from non-imprinted components
- Authors
- Rapkins, R.W., Hore, T., Smithwick, M., Ager, E., Pask, A.J., Renfree, M.B., Kohn, M., Hameister, H., Nicholls, R.D., Deakin, J.E., and Graves, J.A.
- ID
- ZDB-PUB-070828-3
- Date
- 2006
- Source
- PLoS Genetics 2(10): e182 (Journal)
- Registered Authors
- Keywords
- Genomic imprinting, Prader-Willi syndrome, Marsupials, Angelman syndrome, Monotremes, Mammals, Mammalian genomics, Platypus
- MeSH Terms
-
- Alleles
- Animals
- Autoantigens/genetics
- Chromosome Mapping
- Chromosomes, Mammalian/genetics
- Genome, Human/genetics
- Genomic Imprinting/genetics*
- Humans
- In Situ Hybridization, Fluorescence
- Marsupialia/genetics*
- Mice
- Platypus/genetics*
- Ribonucleoproteins, Small Nuclear/genetics
- Sequence Analysis, DNA
- Sequence Homology
- Ubiquitin-Protein Ligases/genetics
- snRNP Core Proteins
- PubMed
- 17069464 Full text @ PLoS Genet.
Citation
Rapkins, R.W., Hore, T., Smithwick, M., Ager, E., Pask, A.J., Renfree, M.B., Kohn, M., Hameister, H., Nicholls, R.D., Deakin, J.E., and Graves, J.A. (2006) Recent assembly of an imprinted domain from non-imprinted components. PLoS Genetics. 2(10):e182.
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 (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.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping