Publication Date:
1992-05-01
Description:
Germ-line mutations of the APC gene are responsible for familial adenomatous polyposis (FAP), an autosomal dominantly inherited disease in humans. Patients with FAP develop multiple benign colorectal tumors. Recently, a mouse lineage that exhibits an autosomal dominantly inherited predisposition to multiple intestinal neoplasia (Min) was described. Linkage analysis showed that the murine homolog of the APC gene (mApc) was tightly linked to the Min locus. Sequence comparison of mApc between normal and Min-affected mice identified a nonsense mutation, which cosegregated with the Min phenotype. This mutation is analogous to those found in FAP kindreds and in sporadic colorectal cancers.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Su, L K -- Kinzler, K W -- Vogelstein, B -- Preisinger, A C -- Moser, A R -- Luongo, C -- Gould, K A -- Dove, W F -- CA-06973/CA/NCI NIH HHS/ -- CA-07175/CA/NCI NIH HHS/ -- CA-23076/CA/NCI NIH HHS/ -- etc. -- New York, N.Y. -- Science. 1992 May 1;256(5057):668-70.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Molecular Genetics Laboratory, Johns Hopkins University School of Medicine, Baltimore, MD 21231.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/1350108" target="_blank"〉PubMed〈/a〉
Keywords:
Adenomatous Polyposis Coli/*genetics
;
Animals
;
Base Sequence
;
Blotting, Southern
;
Colorectal Neoplasms/genetics
;
DNA, Neoplasm/chemistry/genetics
;
*Genes, Tumor Suppressor
;
Genetic Linkage
;
Humans
;
Intestinal Neoplasms/*genetics
;
Mice
;
Mice, Inbred AKR
;
Mice, Inbred BALB C
;
Mice, Inbred C57BL
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Molecular Sequence Data
;
*Mutation
;
Phenotype
;
Polymorphism, Restriction Fragment Length
;
Sequence Homology, Nucleic Acid
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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