2003
DOI: 10.1093/hmg/ddg034
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Loss of imprinting of IGF2 and H19 in osteosarcoma is accompanied by reciprocal methylation changes of a CTCF-binding site

Abstract: The adjacent insulin-like growth factor 2 (IGF2) and H19 genes are imprinted in most normal human tissues, but imprinting is often lost in tumors. The mechanisms involved in maintenance of imprinting (MOI) and loss of imprinting (LOI) are unresolved. We show here that osteosarcoma (OS) tumors with IGF2/H19 MOI exhibit allele-specific differential methylation of a CTCF-binding site upstream of H19. LOI of IGF2 or H19 in OS occurs in a mutually exclusive manner, and occurs with monoallelic expression of the othe… Show more

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Cited by 133 publications
(65 citation statements)
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References 40 publications
(58 reference statements)
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“…21 This has been extensively studied in neoplastic disorders, including bone tumors. 22,23 However, little is known about the potential role of DNA methylation in normal bone and non-neoplastic bone disorders.…”
Section: Discussionmentioning
confidence: 99%
“…21 This has been extensively studied in neoplastic disorders, including bone tumors. 22,23 However, little is known about the potential role of DNA methylation in normal bone and non-neoplastic bone disorders.…”
Section: Discussionmentioning
confidence: 99%
“…H19 and the adjacent protein-coding gene IGF2 are imprinted in most normal tissues, and this imprinting is often lost in tumors (Ulaner et al 2003a, Ulaner et al 2003b). This loss of imprinting is associated with differential methylation of a CTCF-binding site upstream of H19.…”
Section: Osteogenesis and Osteosarcomamentioning
confidence: 99%
“…Loss of imprinting (LOI) in paternal allele and the resulting overexpression of H19 was found in various cancers including lung cancer [67], oesophagus cancer [68], osteosarcoma [69], and bladder cancer [70]. H19 upregulation was found related to a range of risk factors such as smoking, carcinogens exposuring, and hypoxia.…”
Section: H19mentioning
confidence: 99%