Identification of the human homolog of the imprinted mouse Air non-coding RNA

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 ti...

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Published in:	Genomics (San Diego, Calif.) Vol. 92; no. 6; pp. 464 - 473
Main Authors:	Yotova, Iveta Y., Vlatkovic, Irena M., Pauler, Florian M., Warczok, Katarzyna E., Ambros, Peter F., Oshimura, Mitsuo, Theussl, Hans-Christian, Gessler, Manfred, Wagner, Erwin F., Barlow, Denise P.
Format:	Journal Article
Language:	English
Published:	Amsterdam Elsevier Inc 01-12-2008 Elsevier
Subjects:	AIR (AIRN) ncRNA Alternative Splicing Animals Base Sequence Biological and medical sciences Conserved Sequence CpG Islands DNA Methylation Evolution, Molecular Fundamental and applied biological sciences. Psychology Gene Expression Genes. Genome Genetics of eukaryotes. Biological and molecular evolution Genomic Imprinting HeLa Cells Humans IGF2R Introns Kidneys Medical sciences Mice Mice, Transgenic Molecular and cellular biology Molecular genetics Nephrology. Urinary tract diseases Polymorphism, Genetic Promoter Regions, Genetic Receptor, IGF Type 2 - genetics RNA, Untranslated - genetics Transcription Initiation Site Transfection Transgenes Tumors of the urinary system Wilms Tumor - genetics Wilms' tumor AIR (AIRN) ncRNA Wilms' tumor IGF2R Genomic imprinting Kidney disease Human Urinary system disease Genomics Rodentia Identification Malignant tumor Vertebrata Mammalia Mouse Wilms tumor Cancer
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Summary:	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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 Present address: Department of Obstetrics and Gynecology, Medical University of Vienna, Waehringer Guertel 18-20, A1090, Austria.
ISSN:	0888-7543 1089-8646
DOI:	10.1016/j.ygeno.2008.08.004