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

被引：43

作者：

Yotova, Iveta Y. ^{[1
]}

Vlatkovic, Irena M. ^{[1
]}

Pauler, Florian M. ^{[1
]}

Warczok, Katarzyna E. ^{[1
]}

Ambros, Peter F. ^{[2
]}

Oshimura, Mitsuo ^{[3
]}

Theussl, Hans-Christian ^{[4
]}

Gessler, Manfred ^{[5
]}

Wagner, Erwin F. ^{[4
]}

Barlow, Denise P. ^{[1
]}

机构：

[1] Austrian Acad Sci, CeMM Res Ctr Mol Med, Vienna Bioctr, A-1030 Vienna, Austria

[2] St Anna Childrens Hosp, Childrens Canc Res Inst, A-1090 Vienna, Austria

[3] Tottori Univ, Inst Regenerat Med & Biofunct, Yonago City, Tottori 6838503, Japan

[4] Res Inst Mol Pathol, A-1030 Vienna, Austria

[5] Univ Wurzburg, Chem Biozentrum, Theodor Boveri Inst Physiol, D-97074 Wurzburg, Germany

来源：

GENOMICS | 2008年 / 92卷 / 06期

基金：

奥地利科学基金会;

关键词：

Genomic imprinting; IGF2R; AIR (AIRN) ncRNA; Wilms' tumor;

D O I：

10.1016/j.ygeno.2008.08.004

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

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 enclogenous 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. (C) 2008 Elsevier Inc. All rights reserved.

引用

页码：464 / 473

页数：10

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