title: Disruption of the APC gene by a retrotransposal insertion of L1 sequence in a colon cancer.
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.
authors.affiliation: Department of Biochemistry, Cancer Institute, Tokyo, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Miki
authors.forename: I
authors.initials: I
authors.lastname: Nishisho
authors.forename: A
authors.initials: A
authors.lastname: Horii
authors.forename: Y
authors.initials: Y
authors.lastname: Miyoshi
authors.forename: J
authors.initials: J
authors.lastname: Utsunomiya
authors.forename: K W
authors.initials: KW
authors.lastname: Kinzler
authors.forename: B
authors.initials: B
authors.lastname: Vogelstein
authors.forename: Y
authors.initials: Y
authors.lastname: Nakamura
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D001483:Base Sequence; D015139:Blotting, Southern; D003110:Colonic Neoplasms / Q000235:genetics*; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D004251:DNA Transposable Elements; D004273:DNA, Neoplasm / Q000235:genetics / Q000302:isolation & purification; D005091:Exons; D016147:Genes, Tumor Suppressor; D006801:Humans; D007413:Intestinal Mucosa / Q000503:physiopathology; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D012091:Repetitive Sequences, Nucleic Acid; D012190:Retroviridae / Q000235:genetics; D012689:Sequence Homology, Nucleic Acid
chemical_list: D004251:DNA Transposable Elements; D004273:DNA, Neoplasm; D004247:DNA