Characterization of the human p57KIP2 gene: Alternative splicing, insertion/deletion polymorphisms in VNTR sequences in the coding region, and mutational analysis

Human Genetics

Volumn 97, Issue 5, 1996, Pages 625-631

  Tokino, Takashi ^a   Urano, Tsutomu ^a   Furuhata, Tomohisa ^a   Matsushima, Mieko ^a   Miyatsu, Takashi ^a   Sasaki, Shin ^a   Nakamura, Yusuke ^a  

^a UNIVERSITY OF TOKYO   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CDKN1C PROTEIN, HUMAN; CYCLIN DEPENDENT KINASE; CYCLIN DEPENDENT KINASE INHIBITOR 1C; ENZYME INHIBITOR; NUCLEAR PROTEIN; PRIMER DNA; ALANINE; COMPLEMENTARY DNA; PROLINE;

ALTERNATIVE RNA SPLICING; ARTICLE; BIOSYNTHESIS; BLADDER TUMOR; BREAST TUMOR; CHROMOSOME 11; CHROMOSOME BANDING PATTERN; CHROMOSOME MAP; DRUG ANTAGONISM; EXON; FEMALE; GENE DELETION; GENE EXPRESSION REGULATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENETICS; HUMAN; LIVER TUMOR; MOLECULAR GENETICS; MUTAGENESIS; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PROTEIN SYNTHESIS; TRANSPOSON; TUMOR SUPPRESSOR GENE; BLADDER CARCINOMA; BREAST CARCINOMA; CHROMOSOME 11P; CODING; CONTROLLED STUDY; DELETION MUTANT; DNA POLYMORPHISM; FETUS; GENE LOCATION; GENE MUTATION; HUMAN TISSUE; INTRON; LIVER CARCINOMA; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; PROTEIN DOMAIN; SOMATIC MUTATION; TRANSLATION INITIATION; VARIABLE NUMBER OF TANDEM REPEAT;

ALTERNATIVE SPLICING; BASE SEQUENCE; BREAST NEOPLASMS; CHROMOSOME BANDING; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 11; CYCLIN-DEPENDENT KINASE INHIBITOR P57; CYCLIN-DEPENDENT KINASES; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA TRANSPOSABLE ELEMENTS; ENZYME INHIBITORS; EXONS; FEMALE; GENES, TUMOR SUPPRESSOR; HUMANS; LIVER NEOPLASMS; MOLECULAR SEQUENCE DATA; MUTAGENESIS; MUTAGENESIS, INSERTIONAL; NUCLEAR PROTEINS; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; PROTEIN BIOSYNTHESIS; REPETITIVE SEQUENCES, NUCLEIC ACID; SEQUENCE DELETION; URINARY BLADDER NEOPLASMS; VARIATION (GENETICS);

EID: 0029670462     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02281873     Document Type: Article

References (38)

1. Bullrich F, MacLachlan TK, Sang N, Druck T, Veronese ML, Allen SL, Chiorazzi N, Koff A, Heubner K, Croce CM, Giordano A (1995) Chromosomal mapping of members of the cdc2 family of protein kinases, cdk3, cdk6, PISSLRE. and PITALRE, and a cdkinhibitor, p27Kipl, to regions involved in human cancer. Cancer Res 55: 1199-1205
2. Caskey CT, Pizzuti A, Fu Y-H, Fenwick Jr RG, Nelson D (1992) Triplet repeat mutations in human disease. Science 256: 784-789
3. Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidium thiocyanate-phenol-chloroform. Anal Biochem 162: 156-159
4. El-Deiry WS, Tokino T, Velculescu VE, Levy DB, Parsons R, Trent JM, Lin D, Mercer WE, Kinzler KW, Vogelstein B (1993) WAF1, a potential mediator of p53 tumor suppression. Cell 75: 817-825
5. Fearon ER, Feinberg AP, Hamilton SR, Vogelstein B (1985) Loss of genes on the short arm of chromosome 11 in bladder cancer. Nature 318: 377-380
6. Flores-Rozas H, Kelman Z, Dean FB, Pan ZQ, Harper JW, Elledge SJ, O'Donell M, Hurwitz J (1994) Cdk-interacting protein 1 directly binds with proliferating cell nuclear antigen and inhibits DNA replication catalyzed by the DNA polymerase and holoenzyme. Proc Natl Acad Sci USA 91: 8655-8659
7. Fujimori M, Tokino T, Hino O, Kitagawa T, Imamura T, Okamoto E, Mitsunobu M, Ishikawa T, Nakagama H, Harada H, Yagura M, Matsubara K, Nakamura Y (1991) Allelotype study of primary hepatocellular carcinoma. Cancer Res 51: 89-93
8. Gu Y, Turck CW, Morgan DC (1993) Inhibition of CDK2 activity in vivo by an associated 20 K regulatory subunit. Nature 366: 707-710
9. Guan K-L, Jenkins CW, Li Y, Nichols MA, Wu X, O'Keefe CL, Matera AG, Xiong Y (1994) Growth suppression by p18, a p16INK4/MTS1 and p14INK4/MTS-related CDK6 inhibitor, correlates with wild-type pRb function. Genes Dev 8: 2939-2952
10. Han H-J, Maruyama M, Baba S, Park J-G, Nakamura Y (1995) Genomic structure of human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary non-polyposis colorectal cancer (HNPCC). Hum Mol Genet 4: 237-242
11. Hannon GJ, Beach D (1994) p15INK4b is a potential effector of cell cycle arrest mediated by TGF-b. Nature 371: 257-261
12. Harper JW, Adami GR, Wei N, Keyomarsi K, Elledge SJ (1993) The p21 cdk-interacting protein Cip1 is a potent inhibitor of G1 cyclin-dependent kinases. Cell 75: 805-816
13. Hunter T, Pines J (1994) Cyclins and cancer. II. Cyclin D and CDK inhibitors come of age. Cell 79: 573-582
14. Hussussian CJ, Struewing JP, Goldstein AM, Higgins PA, Ally DS, Sheahan MD, Clark WH, Tucker MA, Dracopoli NC (1994) Germline p16 mutations in familial melanoma. Nature Genet 8: 15-21
15. Kamb A, Gruis NA, Weaver-Feldhaus J, Liu Q, Harshman K, Tavtigian SV, Stockert E, Day RS III, Johnson BE, Skolnick MH (1994a) A cell cycle regulator involved in genesis of many tumor types. Science 264: 436-440
16. Kamb A, Shattuck-Eidens D, Eeles R, Liu Q, Gruis NA, Ding W, Hussry C, Tran T, Miki Y, Weaver-Feldhaus J, McClure M, Aitken JF, Anderson DE, Bergman W, Frants R, Goldgar DE, Green A, MacLennan R, Martin NG, Meyer LJ, Youl P, Zone JJ, Skolnick MH, Cannon-Albright LA (1994b) Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p susceptibility locus. Nature Genet 8: 23-26
17. Kawamata N, Morosetti R, Miller CW, Park D, Spirin KS, Nakamaki T, Takeuchi S, Hatta Y, Simpson J, Wilczynski S, Lee YY, Bartram CR, Koeffler HP (1995) Molecular analysis of the cyclin-dependent kinase inhibitor gene p27/Kip1 in human malignancies. Cancer Res 55: 2266-2269
18. Lee M-H, Reynisdottir I, Massague J (1995) Cloning of p57Kip2, a cyclin-dependent kinase inhibitor with unique domain structure and tissue distribution. Genes Dev 9: 639-649
19. Li R, Waga S, Hannon GJ, Beach D, Stillman B (1994) Differential effects by the p21 CDK inhibitor on PCNA dependent DNA replication and repair. Nature 371: 534-537
20. Markowitz S, Wang J, Myeroff L, Parsons R, Sun L, Lutterbaugh J, Fan RS, Zborowska E, Kinzler KW, Vogelstein B, Brattain M, Willson JKV (1995) Inactivation of the type II TGF-b receptor in colon cancer cells with microsatellite instability. Science 268: 1336-1338
21. Matsuoka S, Edwards MC, Bai C, Parker S, Zhang P, Baldini A, Harper JW, Elledge SJ (1995) p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene. Genes Dev. 9: 650-662
22. Mossese S, Ozcelik H, Lee PD, Malkin D, Bull SB, Andrulis IL (1995) Two variants of the CIP1/WAF1 gene occur together and are associated with human cancer. Hum Mol Genet 4: 1089-1092
23. Nobori T, Miura K, Wu DJ, Lois A, Takabayashi K, Carson DA (1994) Deletions of the cyclin-dependent kinase-4 inhibitor gene in multiple human cancers. Nature 368: 753-756
24. Noda A, Ning Y, Venable SF, Pereira-Smith OM, Smith JR (1994) Cloning of senescent cell-derived inhibitors of DNA synthesis using an expression screen. Exp Cell Res 211: 90-98
25. Pietenpol JA, Bohlander SK, Sato Y, Papadopoulos N, Liu B, Friedman C, Trask BJ, Roberts JM, Kinzler KW, Rowley JD, Vogelstein B (1995) Assignment of the human p27Kip1 gene to 12p13 and its analysis in leukemia. Cancer Res 55: 1206-1210
26. Polyak K, Lee M-H, Erdjument-Bromage H, Koff A, Tempst P, Roberts JM, Massague J (1994) Cloning of p27Kip1, a cyclin-dependent kinase inhibitor and a potential mediator of extracellular antimitogenic signals. Cell 78: 59-66
27. Ponce-Castaneda MV, Lee M-H, Latres E, Polyak K, Lacombe L, Montgomer K, Mathew S, Krauter K, Sheinfeld J, Massague J, Cordon-Cardo C (1995) p27Kip1: chromosomal mapping to 12p12-12p13.1 and absence of mutations in human tumors. Cancer Res 55: 1121-1124
28. Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning: a laboratory manual, 2nd edn. Cold Spring Harbor Laboratory. Cold Spring Habor, NY
29. Serrano M, Hannon GJ, Beach D (1993) A new regulatory motif in cell cycle control causing specific inhibition of cyclinD/cdk4. Nature 366: 704-707
30. Sherr CJ (1994) GI phase progression: cyclin on cue. Cell 79: 551-555
31. Shiohara M, El-Deiry WS, Wada M, Nakamaki T, Takeuchi S, Yang R, Chen D-L, Vogelstein B, Koeffler HP (1994) Absence of WAF1 mutations in a variety of human malignancies. Blood 84: 3781-3784
32. Sudo K, Chinen K, Nakamura Y (1994) 2058 expressed sequence tags (ESTs) from a human fetal lung cDNA library. Genomics 24: 276-279
33. Takita K, Sato T, Miyagi M, Watatani M, Akiyama F, Sakamoto G, Kasumi F, Abe R, Nakamura Y (1992) Correlation of loss of alleles on the short arms of chromosomes 11 and 17 with metastasis of primary breast cancer to lymph nodes. Cancer Res 52: 3914-3917
34. Theillet C, Lidereau R, Escot C, Hutzell P, Brunet M, Gest J, Schlom J, Callahan R (1986) Loss of a c-H-ras-1 allele and aggressive human primary breast carcinomas. Cancer Res 46: 4776-4781
35. Tokino T, Takahashi E, Mori M, Tanigami A, Glaser T, Park JW, Jones C, Hori T, Nakamura Y (1991) Isolation and mapping of 62 new RFLP markers on human chromosome 11. Am J Hum Genet 48: 258-268
36. Toyoshima H, Hunter T (1994) p27, a novel inhibitor of G1 cyclin/cdk protein kinase activity, is related to p21. Cell 78: 67-74
37. Waga S, Hannon GJ, Beach D, Stillman B (1994) The p21 inhibitor of cyclin-dependent kinases controls DNA replication by interaction with PCNA. Nature 369: 574-578
38. Xiong Y, Hannon GJ, Zang H, Casso D, Kobayashi R, Beach D (1993) p21 is a universal inhibitor of cyclin kinases. Nature 366: 701-704