Germline mutations detected in the von Hippel'Lindau disease tumor suppressor gene by Southern blot and direct genornic DNA sequencing

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Li, Chunde ^a   Weber, Günther ^b   Ekman, Peter ^a   Lagercrantz, Jacob ^b   Norlen, Bo Johan ^c   Akerström, Göoran ^c   Nordenskjöld, Magnus ^b   Bergerheim, Ulf S R ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b Kurolinsku Hospital   (Sweden)

^c UPPSALA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Germline mutation; Renal cell carcinoma; Von Hippel Lindau disease

Indexed keywords

COMPLEMENTARY DNA; DNA;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; FAMILIAL CANCER; GENE MUTATION; GENOME; HUMAN; HUMAN CELL; KIDNEY CARCINOMA; MISSENSE MUTATION; PRIORITY JOURNAL; SOUTHERN BLOTTING; TUMOR SUPPRESSOR GENE; VON HIPPEL LINDAU DISEASE; AMINO ACID SUBSTITUTION; CHEMISTRY; DNA SEQUENCE; FAMILY HEALTH; FEMALE; FRAMESHIFT MUTATION; GENETICS; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; SWEDEN;

AMINO ACID SUBSTITUTION; BASE SEQUENCE; BLOTTING, SOUTHERN; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; FRAMESHIFT MUTATION; GENES, TUMOR SUPPRESSOR; GERM-LINE MUTATION; HIPPEL-LINDAU DISEASE; HUMANS; MALE; PEDIGREE; SEQUENCE ANALYSIS, DNA; SWEDEN;

EID: 21544480600     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110111     Document Type: Article

References (15)

1. Bergerheim USR, Nordenskjold M, Collins VP (1989) Deletion map ping in human renal cell carcinoma. Cancer Res 49: 1390-1396.
2. Chen E Kishida T, Yao M, Hustad T, Glavac D, Dean M, Gnarra RJ, Orcutt LM, Duh FM, Glenn G, Green J, Hisa YE, Lamiell J, Li H, Wei MH, Schmidt L, Tory K, Kuzmin 1, Stackhouse T, Latif F, Linehan WM, Lerman M, Zbar B (1995) Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: Correlations with phenotype. Hum Mutat 5:6675.
3. Choyke PL, Glenn GM, Walther MM, Patronas N], Linehan WM, Zbar B (1995) von Hippel-Lindau disease: Genetic, clinical, and imaging features. Radiology 194:629442.
4. Crossey PA, Richards FM, Foster K, Green JS, Prowse A, Latif 6 Lerman MI, Zbar B, Affara AA, Ferguson-Smith A, Maher ER (1994) Identification of intragenic mutations in the von Hippel- Lindau disease tumor suppressor gene and correlation with disease phenotype. Hum Mol Genet 3:1303-1308.
5. Duan RD, Pause A, Burgess WB, Aso T, Chen DYT, Garrett KE Conaway RC, Conaway JW, Linehan WM, Klausner RD (1995) Inhibition of transcription elongation by the VHL tumor suppressor protein. Science 269: 1402-1406.
6. Gao J, Naglich JG, Laidlaw J, Whaley JM, Seizinger BR, Kley N (1995) Cloning and characterization of a mouse gene with homology to the human von Hippel-Lindau disease tumor suppressor gene: Implication for the potential organization of the human von Hippel-Lindau disease gene. Cancer Res 55:743-747.
7. Gnarra JR, Tory K, Weng Y, Schmidt MH, Wei H, Latif F, Liu S, Chen F, Duh FM, Lubensky I, Duan DR, Florence C, Pozzatti R, Walther MM, Bander NH, Grossman BH, Brauch H, Pomer S, Brooks JD, lsaacs WB, Lerman MI, Linehan WM (1994) Mutations of the VHL tumor supppressor gene in renal carcinoma. Nature Genet 74-90.
8. Kibel A, Iliopoulos 0, DeCaprio JA, Kaelin WG Jr (1995) Binding of the von Hippel-Lindau tumor suppressor protein to Elongin B and C. Science 269: 1444-1446.
9. Kuzmin I, Duh FM, Latif F, Geil L, Zbar B, Lerman MI (1995) Identification of the promoter of the human von Hippel-Lindau disease tumor suppressor gene. Oncogene 10:2185-2194.
10. Latif F, Tory K, Gnarra J, Yao M, Duh FM, Orcutt ML, Stackhouse T, Kuzmin I, Modi W, Geil L, Schmidt L, Zhou F, Li H, Wei MH, Chen F, Glenn G, Choyke Walther MM, Weng Y, Duan DR, Dean M, Glavac D, Richards FM, Crossey PA, Ferguson-Smith MA, Pasilier LD, Chumakov I, Cohen D, Chinault AC, Maher ER, Linehan WM, Zbar B, Lerman MI (1993) Identification of the von Hippel-Lindau disease tumor suppressor gene. [See comments.] Science 260:1317-1320.
11. Maher ER, Yates JRW, Harries R, Benjamin C, Harris R, Ferguson- Smith MA (1990) Clinical features and natural history of von Hippel-Lindau disease. Q J Med 77:1151-1163.
12. Melmon KL, Rosen SW (1964) Lindau's disease: Review of the literature and study of a large kindred. Am J Med 36:595.
13. Seizinger BR, Rouleau GA, Ozelius LJ, Lane AH, Farmer GE, Lamiell JM, Haines J, Yuen JJW, Collins D, Majoor-Krakrauer D, Bonner T, Mathew C, Rubenstein A, Halperin J , McConkie-Rosell A, Green JS, Trofatter JA, Ponder BA, Eierman L, Bowmer MI, Schimke R, Oostra B, Aronin N, Smith DI, Drabkin H, Waziri MH, Hobbs WJ, Martuza RL, Conneally PM, Hsia YE, Gusella JF (1988) von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma. Nature 332:268-269.
14. Whaley JM, Naglich J, Gelbert L, Hsia EY, Lamiell JM, Green JS, Collins D, Neumann HPH, Laidlow J, Li FF: Klein-Szanto AJF: Seizinger BR, Kley N (1994) Germ-line mutations in the von Hippel-Lindau tumor suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma. Am J Hum Genet 55:11092-1102.
15. Zedenius J, Wallin G, Hamberger B, Nordenskjdd M, Weber G, Larsson C (1994) Somatic and MEN 2A de novo mutations identified in the RET proto-oncogene by screening of sporadic MTC:s. Hum Genet 3:1959-1962.