Journal ArticleDOI
Identification of FAP locus genes from chromosome 5q21
Kenneth W. Kinzler,Mef Nilbert,Li Kuo Su,Bert Vogelstein,Tracy M. Bryan,Daniel B. Levy,Kelly J. Smith,Antonette C. Preisinger,Hedge Philip John,Douglas McKechnie,Rachel Finniear,Alex Markham,John Groffen,Mark S. Boguski,Stephen F. Altschul,Akira Horii,Hiroshi Ando,Yasuo Miyoshi,Yoshio Miki,Isamu Nishisho,Yusuke Nakamura +20 more
TLDR
The APC gene was identified in a contig initiated from the MCC gene and was found to encode an unusually large protein, and these two closely spaced genes encode proteins predicted to contain coiled-coil regions, which were also expressed in a wide variety of tissues.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.read more
Citations
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The Wnt signaling pathway in development and disease.
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Wnt/beta-catenin signaling in development and disease.
TL;DR: A remarkable interdisciplinary effort has unraveled the WNT (Wingless and INT-1) signal transduction cascade over the last two decades, finding that Germline mutations in the Wnt pathway cause several hereditary diseases, and somatic mutations are associated with cancer of the intestine and a variety of other tissues.
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Wnt/β-catenin signaling and disease.
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Pathology and genetics of tumors of soft tissue and bone
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sources and effects of ionizing radiation
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References
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A genetic model for colorectal tumorigenesis
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Bert Vogelstein,Eric R. Fearon,Stanley R. Hamilton,Scott E. Kern,Ann C. Preisinger,Mark Leppert,A M Smits,Johannes L. Bos +7 more
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