Loss of heterozygosity at chromosome 9p21 (INK4-p14(ARF) locus): Homozygous deletions and mutations in the p16 and p14(ARF) genes in sporadic primary melanomas

Melanoma Research

Volumn 9, Issue 2, 1999, Pages 138-147

  Kumar, R ^a   Smeds, J ^a   Lundh Rozell, B ^b   Hemminki, K ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

^b NONE

Author keywords

Homozygous deletions; INK4; Loss of heterozygosity; Mutations; Primary melanoma

Indexed keywords

ALLELE; ARTICLE; CENTROMERE; CHROMOSOMAL LOCALIZATION; DELETION MUTANT; FLUORESCENCE; GENE LOCUS; GENETIC ANALYSIS; HETEROZYGOSITY LOSS; HUMAN; HUMAN CELL; MELANOMA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; TELOMERE; TUMOR SUPPRESSOR GENE;

EID: 0032794625     PISSN: 09608931     EISSN: None     Source Type: Journal    
DOI: 10.1097/00008390-199904000-00005     Document Type: Article

References (51)

1. Serrano M, Hannon GJ, Beach D. A new regulatory motif in cell cycle control causing specific inhibition of cyclin D/CDK4. Nature 1993; 366: 704-707.
2. Sherr CJ. Cancer cell cycles. Science 1996; 274: 1672-1677.
3. INK4b is a potential effector of cell cycle arrest mediated by TGF-β. Nature 1994; 371: 257-261.
4. Kamb A, Gruis NA, Weaver-Feldhaus J, Liu Q, Harshman K, Tavtigian SV, Stockert E, Day RS, Johnson BE, Skolnick MH. A cell cycle regulator potentially involved in genesis of many tumour types. Science 1994; 264: 436-440.
5. INK4/MTS1 gene transcript in B-cell malignancies. Oncogene 1995; 11: 21-29.
6. INK4A transcript. Cancer Res 1995; 55: 2995-2997.
7. Stone S, Jiang P, Dayananth P, Tavtigian SC, Katcher H, Parry D, Peters G, Kamb A. Complex structure and regulation of the p16 (MTS1) locus. Cancer Res 1955; 55: 2988-2994.
8. Quelle DE, Zindy F, Ashmun RA, Sherr CJ. Alternative reading frames of the INK4a tumour suppressor gene encode two unrelated proteins capable of inducing cell cycle arrest. Cell 1995; 83: 993-1000.
9. Liggett WH, Sewell DA, Rocco J, Ahrendt SA, Koch W, Sidransky D. p16 and p16β are potent growth suppressors of head and neck carcinoma cells in vitro. Cancer Res 1996; 56: 4119-4123.
10. ARF. Cell 1997; 91: 649-659.
11. Arf, interacts with MDM2 and neutralizes MDM2's inhibition of p53. Cell 1998; 92: 713-723.
12. Zhang Y, Xiong Y, Yarbrough WG. ARF promotes MDM2 degradation and stabilizes p53: ARF-INK4a locus deletion impairs both the Rb and p53 tumour suppression pathways. Cell 1998; 92: 725-734.
13. Kamijo T, Weber JD, Zambetti G, Zindy F, Roussel MF, Sherr CJ. Functional and physical interactions of the ARF tumour suppressor with p53 and Mdm2. Proc Natl Acad Sci USA 1998; 95: 8292-8297.
14. ARF participates in a regulatory feedback loop with p53 and MDM2. EMBO J 1998; 17: 5001-5014.
15. Zindy F, Eischen CM, Randle DH, Kamijo T, Cleveland JL, Sherr CJ, Roussel MF. Myc signaling via the ARF tumour suppressor regulates p53 dependent apoptosis and immortalization. Genes Dev 1998; 12: 2424-2433.
16. ARF tumour suppressor. Genes Dev 1998; 12: 2434-2442.
17. ARF links the tumour suppressors RB and p53. Nature 1998; 395: 124-125.
18. ARF links the tumour suppressor p53 to Ras. Nature 1998; 395: 125-126.
19. Arf induces p53-dependent apoptosis during abelson virus-mediated pre-B cell transformation. Proc Natl Acad Sci USA 1998; 95: 13194-13199.
20. Goldstein AM, Dracopoli NC, Engelstein M, Fraser MC, Clark WH, Tucker MA. Linkage of cutaneous malignant melanoma/dysplastic nevi to chromosome 9p, and evidence for genetic heterogeneity. Am J Hum Genet 1994; 54: 489-496.
21. Cannon-Albright LA, Kamb A, Skolnick M. A review of inherited predisposition to melanoma. Semin Oncol 1996; 23: 667-672.
22. Hussussian CJ, Struewing JP, Goldstein AM, Higgins PAT, Ally DS, Sheahan MD, Clark WH, Tucker MA, Dracopoli NC. Germline p16 mutations in familial melanoma. Nature Genet 1994; 8: 15-21.
23. Kamb A, Shattuck-Eidens D, Eeles R, Liu Q, Gruis NA, Ding W, Hussey 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. Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus. Nature Genet 1994; 8: 23-26.
24. ARF. Genes Chrom Cancer 1997; 19: 52-54.
25. Gruis NA, Weaver-Feldhaus J, Liu Q, Frye C, Eeles R, Orlow I, Lacombe L, Ponce-Castaneda V, Lianes P, Latres E, Skolnick MH, Cordon-Cardo C, Kamb A. Genetic evidence in melanoma and bladder cancers that p16 and p53 function in separate pathways of tumor suppression. Am J Pathol 1995; 146: 1199-1206.
26. INK4a in sporadic melanoma. J Invest Dermatol 1996; 107: 318-321.
27. INK4a) gene in micro-dissected sporadic primary melanomas. Int J Cancer 1998; 75: 193-198.
28. Piccinin S, Doglioni C, Maestro R, Vukosavijevic T, Gasparotto D, D'Orazi C, Boiocchi M. p16/CDKN2 and CDK gene mutations in sporadic melanoma development and progression. Int J Cancer (Pred Oncol) 1997; 74: 26-30.
29. Puig S, Ruiz A, Lazaro C, Castel T, Lynch M, Palou J, Vilalta A, Weissenbach J, Mascaro J-M, Estivill X. Chromosome 9p deletions in cutaneous malignant melanoma tumours: the minimal deleted region involves markers outside the p16 (CDKN2) gene. Am J Hum Genet 1995; 57: 395-402.
30. Healy E, Rehman I, Angus B, Rees JL. Loss of heterozygosity in sporadic primary cutaneous melanoma. Genes Chrom Cancer 1995; 12: 152-156.
31. Healy E, Belgaid CE, Takata M, Vahlquist A, Rehman I, Rigby H, Rees JL. Allelotype of primary cutaneous melanoma and benign melanocytic nevi. Cancer Res 1996; 56: 589-593.
32. Chin L, Pomerantz J, Polsky O, Jacobson M, Cohen C, Cordon-Cardo C, Horner JW, DePinho RA. Cooperative effects of INK4a and ras in melanoma susceptibility in vivo. Genes Dev 1997; 11: 2822-2834.
33. Clark WH, Elder DE, Guerry D, Braitman LE, Trock BJ, Schultz D, Synnestvedt M, Halpern AC. Model predicting survival in stage I melanoma bases on tumour progression. J Natl Cancer Inst 1989; 81: 1893-1904.
34. Papp T, Jafari M, Schiffmann D. Lack of p53 mutations and loss of heterozygosity in non-cultured human melanocytic lesions. J Cancer Res Clin Oncol 1996; 122: 541-548.
35. ARF. Proc Natl Acad Sci USA 1997; 94: 669-673.
36. Gonzalgo ML, Bender CM, You EH, Glendening JM, Flores JF, Walker GJ, Hayward NK, Jones PA, Fountain JW. Low frequency of p16/CDKN2A methylation in sporadic melanoma: comparative approaches for methylation analysis of primary tumours. Cancer Res 1997; 57: 5336-5347.
37. Mælandsmo GM, Florenes VA, Hovig E, Øyjord T, Engebraaten O, Holm R, Borresen A-L, Fodstad Ø. Involvement of pRb/p16/cdk4/cyclin D1 pathway in the tumorigenesis of sporadic melanomas. Br J Cancer 1996; 73: 909-916.
38. INK4b genes, as well as neighbouring 9p21 markers, in sporadic melanomas. Cancer Res 1996; 56: 5023-5032.
39. Jen J, Harper JW, Bigner SH, Bigner DD, Papadopoulos N, Markowitz S, Willson JKV, Kinzler KW, Vogelstein B. Deletions of p16 and p15 genes in brain tumours. Cancer Res 1994; 54: 6353-6358.
40. ARF encoding exons in T-cell acute lymphoblastic leukemia. Blood 1998; 91: 1016-1020.
41. ARF gene in metastatic melanoma cell lines. Genes Chrom Cancer 1998; 23: 273-277.
42. INK4b genes in 2′, 3′-dideoxycytidine- and 1,3-butadiene-induced murine lymphomas. Oncogene 1998; 16: 803-808.
43. Holland EA, Beaton SC, Edwards BG, Kefford RF, Mann GJ. Loss of heterozygosity and homozygous deletions on 9p21-22 in melanoma. Oncogene 1994; 9: 1361-1365.
44. Ohta M, Berd D, Shimizu M, Nagai H, Cotticelli M-G, Mastrangelo M, Shields JA, Shields CL, Croce CM, Huebner K. Deletion mapping of chromosome region 9p21-p22 surrounding the CDKN2 locus on melanoma. Int J Cancer 1996; 65: 762-767.
45. Farrell WE, Simpson DJ, Bicknell JE, Talbot AJ, Bates AS, Clayton RN. Chromosome 9p deletions in invasive and noninvasive nonfunctional pituitary adenomas: the deleted region involves markers outside of the MTS1 and MTS2 genes. Cancer Res 1997; 57: 2703-2709.
46. INK4a. Oncogene 1997; 15: 1699-1704.
47. Weist JS, Franklin WA, Otstot JT, Forbey K, Varella-Garcia M, Rao K, Drabkin H, Gemmill R, Ahrent S, Sidransky D, Saccomanno G, Fountain JW, Anderson MW. Identification of a novel region of homozygous deletion on chromosome 9p in squamous cell carcinoma of the lung: the location of a putative tumour suppressor gene. Cancer Res 1997; 57: 1-6.
48. Bartkova J, Lukas J, Guldberg P, Alsner J, Kirkin AF, Zeuthen J, Bartek J. The p16-cyclin D/Cdk4-pRb pathway as a functional unit frequently altered in melanoma pathogenesis. Cancer Res 1996; 56: 5475-5483.
49. Hahn H, Wicking C, Zaphiropoulous PG, Gailani MR, Shanley S, Chidambaram A, Vorechovsky I, Holmberg E, Unden AB, Gillies S, Negus K, Smyth I, Pressman C, Leffell DJ, Gerrard B, Goldstein AM, Dean M, Toftgård R, Chenevix-Trench G, Wainwright B, Bale AE. Mutations of the human homolog of Drosophila patched in the neviod basal cell carcinoma syndrome. Cell 1996; 85: 841-851.
50. Venkatachalam S, Shi Y-P, Junes SN, Vogel H, Bradley A, Pinkel D, Donehower LA. Retention of wild-type p53 in tumours from p53 heterozygous mice: reduction of p53 dosage can promote cancer formation. EMBO J 1998; 17: 4657-4667.
51. INK4 in human cancer. Proc Natl Acad Sci USA 1994; 91: 11045-11049.