A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene

Kidney International

Volumn 53, Issue 5, 1998, Pages 1127-1132

  Pei, York ^a   Wang, Kairong ^b   Kasenda, Margareth ^b   Paterson, Andrew D ^b   Liang, Yan ^b   Huang, Eric ^b   Lian, Jeromy ^b   Rogovea, Ekaterina ^b   Somlo, Stefan ^b   St George Hyslop, Peter ^b  

^a UNIVERSITY OF TORONTO   (Canada)

^b NONE

Author keywords

Cyst enlargement; End stage renal disease; Family genetics; Mendelian disorder; Mutation in PKD2

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; FEMALE; FRAMESHIFT MUTATION; GENE INSERTION; GENE SEQUENCE; GENETIC LINKAGE; GENOTYPE; HUMAN; KIDNEY POLYCYSTIC DISEASE; MALE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA TRANSLATION;

EID: 7344263460     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1755.1998.00890.x     Document Type: Article

References (31)

1. FICK G, GABOW P: Hereditary and acquired cystic disease of the kidney. Kidney Ins 46:951-964, 1994
2. HARRIS PC, WARD CJ, PERAL B, HUGHES J: Polycystic kidney disease 1: Identification and analysis of the primary defect. J Am Soc Nephrol 6:1125-1133, 1995
3. PARFREY P, BEAR J, MORGAN J, CRAMER B, MCMANAMON P, GAULT H, CHURCHILL D, SINGH M, HEWITT R, SOMLO S, REEDERS S: The diagnosis and prognosis of autosomal dominant polycystic kidney disease. N Engl J Med 323:1085-1090, 1990
4. RAVIND D, WALKER R, GIBSON R, FORREST S, RICHARDS R, FRIEND K, SHEFFIELD L, KINCAID-SMITH P, DANKS D: Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease. Lancet 340:1330-1333, 1992
5. DAOUST MC, REYNOLDS DM, BICHET DG, SOMLO S: Evidence for a third genetic locus for autosomal dominant polycystic kidney disease. Genomics 25:733-736, 1995
6. DE ALMEIDA S, DE ALMEIDA E, PETERS D, PINTO J, TAVORA I, LAVINHA J, BREUNING M, PRATA M: Autosomal dominant polycystic kidney disease: Evidence for the existence of a third locus in a Portuguese family. Hum Genet 96:83-88, 1995
7. HUGHES J, WARD C, PERAL B, ASPINWALL R, CLARK K, SAN MILLAN J, GAMBLE V, HARRIS PC: The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nature Genet 10:151-160, 1995
8. INTERNATIONAL POLYCYSTIC KIDNEY DISEASE CONSORTIUM: Polycystic kidney disease: The complete structure of the PKD1 gene and its protein. Cell 81:289-298, 1995
9. MOCHIZUKI T, WU G, HAYASHI T, XENOPHONTOS S, VELDHUISEN B, SARIS JJ, REYNOLDS D, CAI Y, GABOW P, PIERIDES A, KIMBERLING W, BREUNING M, CONSTANTINOU DELTAS C, PETERS D, SOMLO S: PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science 272:1339-1342, 1996
10. PERAL B, GAMBLE V, SAN MILLAN JL, STRONG C, SLOANE-STANLEY J, MORENO F, HARRIS PC: Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion. Hum Mol Genet 5:539-542, 1995
11. TURCO AE, ROSSETTI S, BRESIN E, CORRA S, GAMMARO L, MASCHIO G, PIGNATTI P: A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family. Hum Mol Genet 4:1331-1335, 1995
12. PERAL B, ONG ACM, SAN MILLAN JL, GAMBLE V, REES L, HARRIS PC: A stable nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1). Hum Mol Genet 5:539-542, 1996
13. PERAL B, SAN MILLAN JL, ONG ACM, GAMBLE V, WARD CJ, STRONG C, HARRIS PC: Screening the 3′ region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations. Am J Hum Genet 58:86-96, 1996
14. NEOPHYTOU P, CONSTANTINIDES R, LAZAROU A, PIERIDES A, CONSTANTINOU DELTAS C: Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of an autosomal dominant polycystic kidney disease Cypriot family. Hum Genet 98:437-442, 1996
15. ROSSETTI S, BRESIN E, RESTAGNO G, CARBONARA A, CORRA S, DE PRISCO O, PIGNATTI PF, TURCO AE: Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 gene. Am J Med Genet 65:155-159, 1996
16. PERAL B, GAMBLE V, STRONG C, ONG ACM, SLOAN-STANLEY J, ZERRES K, WINEARLS C, HARRIS PC: Identification of mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene by a novel approach. Am J Hum Genet 60:1399-1410, 1997
17. XENOPHONTOS S, CONSTANTINIDES R, HAYASHI T, MOCHIZUKI T, SOMLO S, PIERIDES A, DELTAS CC: A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PKD2). Hum Mol Genet 6:949-952, 1997
18. MILLER S, DYKES D, POLESKY H: Simple salting-out procedure for extracting DNA from human nucleated cells, (abstract) Nucl Acid Res 16:1215, 1987
19. CHOMCZYNSKI P, SACCHI N: Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156-159, 1987
20. SNAREY A, THOMAS S, SCHNEIDER M, POUND S, BARTON N, WRIGHT A, SOMLO S, GERMINO G, HARRIS P, REEDERS S, FRISCHAUF A: Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1). Am J Hum Genet 55:365-371, 1994
21. SAN MILLAN J, VIRIBAY M, PERAL B, MARTINEZ I, WEISSENBACH J, MOREN F: Refining the localization of the PKD2 locus on chromosome 4q by linkage analysis in Spanish families with autosomal dominant polycystic kidney disease. Am J Hum Genet 56:248-253, 1995
22. TERWILLIGER J, OTT J: Handbook of Human Genetic Linkage. Baltimore, Johns Hopkins University Press, 1994
23. DOBIN A. KIMBERLING W, PITTINGER W, BAILEY-WILSON J, SHUGART Y, GABOW P: Segregation analysis of autosomal dominant polycystic kidney disease. Genet Epidemiol 10:189-200, 1993
24. HAYASHI T, MOCHIZUKI T, REYNOLDS D, WU Y, CAI Y, SOMLO S: Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2). Genomics 44:131-136, 1997
25. FARBER R, PETES T, DOMINSKA M, HUDGENS S, LISKAY M: Instability of simple sequence repeats in a mammalian cell line. Hum Mol Genet 3:253-256, 1994
26. STRACHAN T, READ A: Mutation and instability of human DNA, in Human Molecular Genetics, Oxford, BIOS Scientific Publishers, Ltd., 1996, pp 252-255
27. MAHTANI M, WILLARD H: A polymorphic X-linked tetranucleotide repeat locus displaying a high rate of new mutations: Implication for mechanisms of mutation at short tandem repeat locus. Hum Mol Genet 2:431-437, 1993
28. QIAN F, GERMINO J, CAI Y, ZHANG XB, SOMLO S, GERMINO G: PKD1 interacts with PKD2 through a probable coiled-coil domain. Nature Genet 16:179-183, 1997
29. TSIOKAS L, KIM E, ARNOULD T, SUKHATME V, WALZ G: Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2. Proc Natl Acad Sci USA 94:6965-6970, 1997
30. QIAN F, WATNICK T, ONUCHIC L, GERMINO G: The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type 1. Cell 87:979-987, 1996
31. BRASIER J, HENSKE E: Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13.3 in renal cysts supports a loss-of-function model for cyst pathogenesis. J Clin Invest 99:194-199, 1997