Identification and characterization of the familial adenomatous polyposis coli gene

Cell - Tập 66 - Trang 589-600 - 1991
Joanna Groden1, Andrew Thliveris1,2, Wade Samowitz3, Mary Carlson1, Lawrence Gelbert1,2, Hans Albertsen1, Geoff Joslyn1,2, Jeff Stevens1,2, Lisa Spirio1, Margaret Robertson1,2, Leslie Sargeant1,2, Karen Krapcho1,2, Erika Wolff1,2, Randall Burt4, J.P. Hughes5, Janet Warrington6, John McPherson6, John Wasmuth6, Denis Le Paslier7, Hadi Abderrahim7
1Department of Human Genetics University of Utah Health Sciences Center Salt Lake City, Utah 84132, USA
2Howard Hughes Medical Institute, University of Utah Health Sciences Center, Salt Lake City, Utah 84132 USA
3Department of Pathology University of Utah Health Sciences Center Salt Lake City, Utah 84132 USA
4Gastroenterology Division, Department of Medicine University of Utah Health Sciences Center Salt Lake City, Utah 84132 USA
5St. Mark's Hospital Salt Lake City, Utah 84117 USA
6Department of Biological Chemistry, College of Medicine, University of California, Irvine, California 92717, USA
7CEPH, 27 rue Juliette Dodu, 75010, Paris, France

Tài liệu tham khảo

Ausubel, 1989, Vol. 1, 13.03 Barker, 1984, Restriction sites containing CpG show a higher frequency of polymorphism in human DNA, Cell, 36, 131, 10.1016/0092-8674(84)90081-3 Bodmer, 1987, Localization of the gene for familial adenomatous polyposis on chromosome 5, Nature, 328, 614, 10.1038/328614a0 Bourne, 1991, Consider the coiled coil, Nature, 351, 188, 10.1038/351188a0 Burt, 1985, Dominant inheritance of adenomatous colonic polyps and colorectal cancer, N. Engl. J. Med., 312, 1540, 10.1056/NEJM198506133122403 Cannon-Albright, 1988, Common inheritance of susceptibility to colonic adenomatous polyps and associated colorectal cancers, N. Engl. J. Med., 319, 533, 10.1056/NEJM198809013190902 Cavenee, 1985, Genetic origin of mutations predisposing to retinoblastoma, Science, 228, 501, 10.1126/science.3983638 Cawthon, 1990, A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations, Cell, 62, 193, 10.1016/0092-8674(90)90253-B Chomczynski, 1987, Single-step method of RNA isolation by acid guanidinium thiocyante-phenol-chloroform extraction, Anal. Biochem., 162, 156, 10.1016/0003-2697(87)90021-2 Cohen, 1986, α-Helical coiled coils — a widespread motif in proteins, Trends Biochem. Sci., 11, 245, 10.1016/0968-0004(86)90186-6 Dean, 1990, Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients, Cell, 61, 863, 10.1016/0092-8674(90)90196-L Fearon, 1990, Identification of a chromosome 18q gene that is altered in colorectal cancers, Science, 247, 49, 10.1126/science.2294591 Herrera, 1986, Brief clinical report: Gardner syndrome in a man with an interstitial deletion of 5q, Am. J. Med. Genet., 25, 473, 10.1002/ajmg.1320250309 Joslyn, 1991, Identification of deletion mutations and three new genes at the familial polyposis locus, Cell, 66, 10.1016/0092-8674(81)90022-2 Kinzler, 1991, Identification of a gene located at chromosome 5q21 that is mutated in colorectal cancers, Science, 251, 1366, 10.1126/science.1848370 Knudson, 1975, Mutation and childhood cancer: a probabilistic model for the incidence of retinoblastoma, 72, 5116 Kyte, 1982, A simple method for displaying the hydropathic character of a protein, J. Mol. Biol., 157, 105, 10.1016/0022-2836(82)90515-0 Leppert, 1990, Genetic analysis of an inherited predisposition to colon cancer in a family with a variable number of adenomatous polyps, N. Engl. J. Med., 322, 904, 10.1056/NEJM199003293221306 Maniatis, 1982 Ochman, 1990, Amplification of flanking sequences by inverse PCR, 219 Okamoto, 1988, Loss of constitutional heterozygosity in colon carcinoma from patients with familial polyposis coli, Nature, 331, 273, 10.1038/331273a0 Orita, 1989, Detection of polymorphisms of human DNA by gel electrophoresis as single strand conformation polymorphisms, 86, 2766 Orita, 1989, Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction, Genomics, 5, 874, 10.1016/0888-7543(89)90129-8 Rivera, 1990, A constitutional 5q23 deletion, J. Med. Genet., 27, 267, 10.1136/jmg.27.4.267 Sanger, 1977, DNA sequencing with chain-terminating inhibitors, 74, 5463 Solomon, 1987, Chromosome 5 allele loss in human colorectal carcinomas, Nature, 328, 616, 10.1038/328616a0 Vogelstein, 1988, Genetic alterations during colorectal tumor development, N. Engl. J. Med., 319, 525, 10.1056/NEJM198809013190901 Waddell, 1989, Sulindac for polyposis of the colon, Am. J. Surg., 157, 175, 10.1016/0002-9610(89)90442-X