%0 Journal Article %1 Yotova.2008 %A Yotova, I. Y. %A Vlatkovic, I. M. %A Pauler, F. M. %A Warczok, K. E. %A Ambros, P. F. %A Oshimura, M. %A Theussl, H. C. %A Gessler, M. %A Wagner, E. F. %A Barlow, D. P. %D 2008 %J Genomics %K *Genomic 2/*genetics Alternative Animals Base Cells Conserved CpG DNA Evolution;Molecular Expression Gene Hela Humans Imprinting Initiation Introns Islands Methylation Mice Mice;Transgenic Polymorphism;Genetic Promoter RNA;Untranslated/*genetics Receptor;IGF Regions;Genetic Sequence Site Splicing Transcription Transfection Transgenes Tumor/genetics Type Wilms %N 6 %P 464--473 %T Identification of the human homolog of the imprinted mouse Air non-coding RNA %V 92 %X Genomic imprinting is widely conserved amongst placental mammals. Imprinted expression of IGF2R, however, differs between mice and humans. In mice, Igf2r imprinted expression is seen in all fetal and adult tissues. In humans, adult tissues lack IGF2R imprinted expression, but it is found in fetal tissues and Wilms' tumors where it is polymorphic and only seen in a small proportion of tested samples. Mouse Igf2r imprinted expression is controlled by the Air (Airn) ncRNA whose promoter lies in an intronic maternally-methylated CpG island. The human IGF2R gene carries a homologous intronic maternally-methylated CpG island of unknown function. Here, we use transfection and transgenic studies to show that the human IGF2R intronic CpG island is a ncRNA promoter. We also identify the same ncRNA at the endogenous human locus in 16-40\% of Wilms' tumors. Thus, the human IGF2R gene shows evolutionary conservation of key features that control imprinted expression in the mouse.

@article{Yotova.2008, abstract = {Genomic imprinting is widely conserved amongst placental mammals. Imprinted expression of IGF2R, however, differs between mice and humans. In mice, Igf2r imprinted expression is seen in all fetal and adult tissues. In humans, adult tissues lack IGF2R imprinted expression, but it is found in fetal tissues and Wilms' tumors where it is polymorphic and only seen in a small proportion of tested samples. Mouse Igf2r imprinted expression is controlled by the Air (Airn) ncRNA whose promoter lies in an intronic maternally-methylated CpG island. The human IGF2R gene carries a homologous intronic maternally-methylated CpG island of unknown function. Here, we use transfection and transgenic studies to show that the human IGF2R intronic CpG island is a ncRNA promoter. We also identify the same ncRNA at the endogenous human locus in 16-40{\%} of Wilms' tumors. Thus, the human IGF2R gene shows evolutionary conservation of key features that control imprinted expression in the mouse.}, added-at = {2013-01-29T13:47:26.000+0100}, author = {Yotova, I. Y. and Vlatkovic, I. M. and Pauler, F. M. and Warczok, K. E. and Ambros, P. F. and Oshimura, M. and Theussl, H. C. and Gessler, M. and Wagner, E. F. and Barlow, D. P.}, biburl = {https://www.bibsonomy.org/bibtex/2834a7f7bcd539478006cbbfe6b946c97/ebch}, interhash = {996cdc9b4b801710b522019b0beae75a}, intrahash = {834a7f7bcd539478006cbbfe6b946c97}, journal = {Genomics}, keywords = {*Genomic 2/*genetics Alternative Animals Base Cells Conserved CpG DNA Evolution;Molecular Expression Gene Hela Humans Imprinting Initiation Introns Islands Methylation Mice Mice;Transgenic Polymorphism;Genetic Promoter RNA;Untranslated/*genetics Receptor;IGF Regions;Genetic Sequence Site Splicing Transcription Transfection Transgenes Tumor/genetics Type Wilms}, number = 6, pages = {464--473}, timestamp = {2013-01-29T13:47:32.000+0100}, title = {Identification of the human homolog of the imprinted mouse Air non-coding RNA}, volume = 92, year = 2008 }