Multiple Intestinal Neoplasia Caused by a Mutation in the Murine Homolog of the APC Gene

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...

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Bibliographic Details
Published in:Science (American Association for the Advancement of Science) 1992-05, Vol.256 (5057), p.668-670
Main Authors: Su, Li-Kuo, Kinzler, Kenneth W., Vogelstein, Bert, Preisinger, Antonette C., Moser, Amy Rapaich, Luongo, Cindy, Gould, Karen A., Dove, William F.
Format: Article
Language:English
Subjects:
Adenomatous Polyposis Coli - genetics
Alleles
Animal tumors. Experimental tumors
Animals
APC genes
Base Sequence
Biological and medical sciences
Blotting, Southern
Cancer
Cellular biology
Coding
Colorectal cancer
Colorectal Neoplasms - genetics
Complementary DNA
Disease
DNA
DNA, Neoplasm - chemistry
DNA, Neoplasm - genetics
Experimental digestive system and abdominal tumors
Familial polyposis
Genes, Tumor Suppressor
Genetic aspects
Genetic Linkage
Genetic mutation
Genetics
Humans
Intestinal Neoplasms - genetics
Laboratories
Medical research
Medical sciences
Mice
Mice, Inbred AKR
Mice, Inbred BALB C
Mice, Inbred C57BL
Molecular Sequence Data
Mutation
Mutation (Biology)
Nucleotides
Patients
Phenotype
Phenotypes
Polymerase chain reaction
Polymorphism, Restriction Fragment Length
Polyposis, Familial
Sequence Homology, Nucleic Acid
Transcripts (Written Records)
Tumors
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Items that cite this one
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Description
Summary: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.
ISSN:0036-8075
1095-9203
DOI:10.1126/science.1350108