Abstract
The APC gene is responsible for familial adenomatous polyposis and is considered to be a tumor suppressor gene associated with development of sporadic colorectal tumors. Here we report the disruption of the APC gene caused by somatic insertion of a long interspersed repetitive element (LINE-1 sequence) into the last exon of the APC gene in a colon cancer. The inserted sequence was composed of a 3' portion of the LINE-1 consensus sequence and nearly 180 base pairs of polyadenylate tract. Furthermore, since an 8-base pair target site duplication was observed, retrotranscriptional insertion of an active LINE-1 sequence is suspected as the cause of this insertion event. This is the first report of the disruption of a tumor suppressor gene caused by somatic insertion of a mobile genetic element.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adenomatous Polyposis Coli / genetics*
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Base Sequence
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Blotting, Southern
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Colonic Neoplasms / genetics*
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DNA / genetics
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DNA / isolation & purification
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DNA Transposable Elements*
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DNA, Neoplasm / genetics
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DNA, Neoplasm / isolation & purification
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Exons
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Genes, Tumor Suppressor*
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Humans
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Intestinal Mucosa / physiopathology
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Molecular Sequence Data
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Mutagenesis, Insertional*
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Repetitive Sequences, Nucleic Acid
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Retroviridae / genetics
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Sequence Homology, Nucleic Acid
Substances
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DNA Transposable Elements
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DNA, Neoplasm
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DNA
Associated data
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GENBANK/S44781
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GENBANK/S44786
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GENBANK/S44787
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GENBANK/S72766
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GENBANK/S72767
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GENBANK/S72768
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GENBANK/S72769
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GENBANK/S72771
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GENBANK/S78214
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GENBANK/X63098