Disruption of the APC gene by a retrotransposal insertion of L1 sequence in a colon cancer

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 sequen...

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Bibliographic Details
Published in:Cancer research (Chicago, Ill.) Ill.), 1992-02, Vol.52 (3), p.643-645
Main Authors: MIKI, Y, NISHISHO, I, HORII, A, MIYOSHI, Y, UTSONOMIYA, J, KINZLER, K. W, VOGELSTEIN, B, NAKUMURA, Y
Format: Article
Language:English
Subjects:
Adenomatous Polyposis Coli - genetics
Base Sequence
Biological and medical sciences
Blotting, Southern
Colonic Neoplasms - genetics
DNA - genetics
DNA - isolation & purification
DNA Transposable Elements
DNA, Neoplasm - genetics
DNA, Neoplasm - isolation & purification
Exons
Gastroenterology. Liver. Pancreas. Abdomen
Genes, Tumor Suppressor
Humans
Intestinal Mucosa - physiopathology
Medical sciences
Molecular Sequence Data
Mutagenesis, Insertional
Repetitive Sequences, Nucleic Acid
Retroviridae - genetics
Sequence Homology, Nucleic Acid
Stomach. Duodenum. Small intestine. Colon. Rectum. Anus
Tumors
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Summary: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.
ISSN:0008-5472
1538-7445