title: Identification of FAP locus genes from chromosome 5q21.
abstract: Recent studies suggest that one or more genes on chromosome 5q21 are important for the development of colorectal cancers, particularly those associated with familial adenomatous polyposis (FAP). To facilitate the identification of genes from this locus, a portion of the region that is tightly linked to FAP was cloned. Six contiguous stretches of sequence (contigs) containing approximately 5.5 Mb of DNA were isolated. Subclones from these contigs were used to identify and position six genes, all of which were expressed in normal colonic mucosa. Two of these genes (APC and MCC) are likely to contribute to colorectal tumorigenesis. The MCC gene had previously been identified by virtue of its mutation in human colorectal tumors. The APC gene was identified in a contig initiated from the MCC gene and was found to encode an unusually large protein. These two closely spaced genes encode proteins predicted to contain coiled-coil regions. Both genes were also expressed in a wide variety of tissues. Further studies of MCC and APC and their potential interaction should prove useful for understanding colorectal neoplasia.
authors.affiliation: Molecular Genetics Laboratory, Johns Hopkins University School of Medicine, Baltimore, MD 21231.
authors.forename: K W
authors.initials: KW
authors.lastname: Kinzler
authors.forename: M C
authors.initials: MC
authors.lastname: Nilbert
authors.forename: L K
authors.initials: LK
authors.lastname: Su
authors.forename: B
authors.initials: B
authors.lastname: Vogelstein
authors.forename: T M
authors.initials: TM
authors.lastname: Bryan
authors.forename: D B
authors.initials: DB
authors.lastname: Levy
authors.forename: K J
authors.initials: KJ
authors.lastname: Smith
authors.forename: A C
authors.initials: AC
authors.lastname: Preisinger
authors.forename: P
authors.initials: P
authors.lastname: Hedge
authors.forename: D
authors.initials: D
authors.lastname: McKechnie
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5; D003106:Colon / Q000502:physiology; D003110:Colonic Neoplasms / Q000235:genetics; D005091:Exons; D015870:Gene Expression; D006801:Humans; D007413:Intestinal Mucosa / Q000502:physiology*; D008969:Molecular Sequence Data; D009132:Muscles / Q000502:physiology; D015345:Oligonucleotide Probes; D016133:Polymerase Chain Reaction; D011336:Probability; D011487:Protein Conformation; D011950:Receptors, Cholinergic / Q000502:physiology; D015183:Restriction Mapping; D012689:Sequence Homology, Nucleic Acid
chemical_list: D015345:Oligonucleotide Probes; D011950:Receptors, Cholinergic