Mutations in the consensus helicase domains of the Werner syndrome gene

American Journal of Human Genetics

Volumn 60, Issue 2, 1997, Pages 330-341

  Yu, Chang En ^a,b   Oshima, Junko ^b   Wijsman, Ellen M ^b,c   Nakura, Jun ^d   Miki, Tetsuro ^d   Piussan, Charles ^e   Matthews, Shellie ^a   Fu, Ying Hui ^f   Mulligan, John ^f   Martin, George M ^b   Schellenberg, Gerard D ^a,b   Burg, G ^g   Epstein, C J ^g   Fischer, W ^g   Fujiwara, Y ^g   Fukuchi, K I ^g   Hoehn, H ^g   Hurlimann, A F ^g   Kiso, S ^g   Matthews, J ^g   Melaragno, M I ^g   Murano, S ^g   Ouais, S ^g   Poot, M ^g   Rizzo, M ^g   Saida, T ^g   Tannock, T C A ^g   Uyeno, B ^g   more..

^a VA PUGET SOUND HEALTH CARE SYSTEM   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^d OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^e AMIENS UNIVERSITY HOSPITAL   (France)

^f Darwin Molecular Corporation   (United States)

^g NONE

Author keywords

[No Author keywords available]

Indexed keywords

HELICASE;

AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENE LOCATION; GENE MUTATION; HUMAN; HUMAN CELL; INTRON; MOLECULAR CLONING; PRIORITY JOURNAL; PROTEIN DOMAIN; WERNER SYNDROME;

ASIAN CONTINENTAL ANCESTRY GROUP; CONSENSUS SEQUENCE; DNA HELICASES; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FRAMESHIFT MUTATION; HAPLOTYPES; HETEROZYGOTE; HUMANS; INTRONS; JAPAN; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; POINT MUTATION; RECQ HELICASES; SEQUENCE DELETION; WERNER SYNDROME;

EID: 16944366241     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (63)

1. Amemiya CT, Alegria-Hartman MJ, Alslanidis C, Chen C, Nikolic J, Gingrich JC, de Jong PJ (1992) A two-dimensional YAC pooling strategy for library screening via STS and Alu-PCR methods. Nucleic Acids Res 20:2559-2563
2. Aoufouchi S, Yelamos J, Milstein C (1996) Nonsense mutations inhibit RNA splicing in a cell-free system: recognition of mutant codon is independent of protein synthesis. Cell 85:415-422
3. Arlett CF, Harcourt SA (1980) Survey of radiosensitivity in a variety of human cell strains. Cancer Res 40:926-932
4. Broughton BC, Steingrimsdottir H, Weber CA, Lehmann AR (1994) Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy. Nat Genet 7:189-194
5. Broughton BC, Thompson AF, Harcourt SA, Vermeulen W, Hoeijmakers JHJ, Botta E, Stefanini M, et al (1995) Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome. Am J Hum Genet 56:167-174
6. Cheng RZ, Murano S, Kurz B, Shmookler Reis RJ (1990) Homologous recombination is elevated in some Werner-like syndromes but not during in vitro or in vivo senescence of mammalian cells. Mutat Res 237:259-269
7. Ellis NA, Groden J, Ye TZ, Straughen J, Lennon DJ, Ciocci S, Proytcheva M, et al (1995) The Bloom's syndrome gene product is homologous to RecQ helicases. Cell 83:655-666
8. Epstein CJ, Martin GM, Schultz AL, Motulsky AG (1966) Werner's syndrome: a review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process. Medicine 45:177-221
9. Flejter WL, McDaniel LD, Johns D, Friedberg EC, Schultz RA (1992) Correction of xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer: involvement of the human ERCC2 DNA repair gene. Proc Natl Acad Sci USA 89:261-265
10. Frederick GD, Amirkhan RH, Schultz RA, Friedberg EC (1994) Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. Hum Mol Genet 3: 1783-1788
11. Fujiwara Y, Higashikawa T, Tatsumi M (1977) A retarded rate of DNA replication and normal level of DNA repair in Werner's syndrome fibroblast cultures. J Cell Physiol 92: 365-374
12. Fukuchi K, Martin GM, Monnat RJ (1989) Mutator phenotype of Werner syndrome is characterized by extensive deletions. Proc Natl Acad Sci USA 86:5893-5897
13. Fukuchi K, Tanaka K, Kumahara Y, Maramo K, Pride M, Martin GM, Monnet RJ (1990) Increased frequency of 6-thioguanine-resistant peripheral blood lymphocytes in Werner syndrome patients. Hum Genet 84:249-252
14. Fukuchi K, Tanaka K, Nakura J, Kumahara Y, Uchida T, Okada Y (1985) Elevated spontaneous mutation rate in SV 40-transformed Werner syndrome fibroblast cell lines. Somat Cell Mol Genet 11:303-308
15. Gawkrodger DJ, Priestley GC, Vijayalamix, Ross JA, Narcisi P, Hunter JAA (1985) Werner's syndrome. Arch Dermatol 121:636-641
16. Gebhart E, Bauer R, Raub U, Schinzel M, Ruprecht KW, Jonas JB (1988) Spontaneous and induced chromosomal instability in Werner syndrome. Hum Genet 80:135-139
17. Gebhart E, Schnizel M, Ruprecht KW (1985) Cytogenetic studies using various clastogens in two patients with Werner syndrome and control individuals. Hum Genet 70:324-327
18. Goddard KAB, Yu C-E, Oshima J, Miki T, Nakura J, Piussan C, Martin GM, et al (1996) Toward localization of the Werner Syndrome gene by linkage disequilibrium and ancestral haplotyping: lessons learned from analysis of 35 chromosome 8p11.1-21.1 markers. Am J Hum Genet 58:1286-1302
19. Gorbalenya AE, Koonin EV, Donchenko AP, Blinov VM (1989) Two related superfamilies of putative helicases involved in replication, recombination, repair and expression of DNA and RNA genomes. Nucleic Acids Res 17:4713-4730
20. Goto M, Horiuchi Y, Tanimoto K, Ishii T, Nakashima H (1978) Werner's syndrome: analysis of 15 cases with a review of the Japanese literature. J Am Geriat Soc 26:341-347
21. Goto M, Miller RW, Ishikawa Y, Sugano H (1996) Excess of rare cancers in Werner Syndrome (adult progeria). Epidemiol Biomarkers Prevent 5:239-246
22. Goto M, Tanimoto K, Horiuchi Y, Sasazuki T (1981) Family analysis of Werner's syndrome: a survey of 42 Japanese families with a review of the literature. Clin Genet 19:8-15
23. Hanaoka F, Takeuchi F, Matsumura T, Goto M, Miyamoto T, Tamada M (1983) Decrease in the average size of replicons in a Werner syndrome cell line by a Simian virus 40 infection. Exp Cell Res 144:463-467
24. Hayflick L (1965) The limited in vitro lifetime of human diploid cell strains. Exp Cell Res 37:614-636
25. Henning KA, Li L, Lyer N, McDaniel LD, Reagan MS, Legerski R, Schultz RA, et al (1995) The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CBS protein and a subunit of RNA polymerase II TFIIH. Cell 82:555-564
26. Higashikawa T, Fujiwara Y (1978) Normal level of unscheduled DNA synthesis in Werner's syndrome fibroblasts in culture. Exp Cell Res 113:438-441
27. Hoehn H, Bryant EM, Au K, Norwood TH, Boman H, Martin GM (1975) Variegated translocation mosaicism in human skin fibroblast cultures. Cytogenet Cell Genet 13:282-298
28. Ion A, Telvi L, Chaussain JL, Galacteros F, Valayer J, Fellous M, McElreavey K (1996) A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome. Am J Hum Genet 58:1185-1191
29. Kakigi R, Endo C, Neshige R, Kohno H, Kuroda Y (1992) Accelerated aging of the brain in Werner's syndrome. Neurology 42:922-924
30. Kieras FJ, Brown WT, Houck GE, Zebrower M (1986) Elevation of hyaluronic acid in Werner's syndrome and progeria. Biochem Med Metab Biol 36:276-282
31. Martin GM, Sprague CA, Epstein CJ (1970) Replicative lifespan of cultivated human cells: effects of donor's age, tissue and genotype. Lab Invest 23:86-92
32. Monnat RJ, Hackmann AFM, Chiaverotti TA (1992) Nucleotide sequence analysis of human hypoxanthine phosphoribosyltransferase (HPRT) gene deletions. Genomics 13:777-787
33. Nakura J, Wijsman EM, Miki T, Kamino K, Yu C-E, Oshima J, Fukuchi K et al (1994) Homozygosity mapping of the Werner syndrome locus (WRN). Genomics 23:600-608
34. Foot M, Hoehn H, Runger TM, Martin GM (1992) Impaired S-phase transit of Werner Syndrome cells expressed in lymphoblastoid cell lines. Exp Cell Res 202:267-273
35. Reed R, Seville RH, Tattersall RN (1953) Werner's syndrome. Br J Dermatol 65:165-176
36. Riley TR, Wieland RG, Markis J, Hamwi GJ (1965) Werner's syndrome. Ann Intern Med 63:285-294
37. Runger TM, Bauer C, Dekant B, Moller K, Sobotta P, Czerny C, Poot M, et al (1994) Hypermutable ligation of plasmid DNA ends in cells from patients with Werner syndrome. J Invest Dermatol 102:45-48
38. Runger TM, Sobotta P, Dekant B, Moller K, Bauer C, Kraemer KH (1993) In vivo assessment of DNA ligation efficiency and fidelity in cells from patients with Franconi's anemia and other cancer-prone hereditary disorders. Toxicol Lett 67:309-324
39. Saito H, Moses RE (1991) Immortalization of Werner syndrome and progeria fibroblasts. Exp Cell Res 192:373-379
40. Salk D (1982) Werner's syndrome: a review of recent research with an analysis of connective tissue metabolism, growth control of cultured cells, and chromosomal aberrations. Hum Genet 62:1-15
41. Salk D, Au K, Hoehn H, Martin GM (1985) Cytogenetic aspects of Werner syndrome. Adv Exp Med Biol 190:541-546
42. Salk D, Bryant E, Au K, Hoehn H, Martin GM (1981) Systematic growth studies, cocultivation, and cell hybridization studies of Werner syndrome cultured skin fibroblasts. Hum Genet 58:310-316
43. Scappaticci S, Cerimele D, Fraccaro M (1982) Clonal structural chromosomal rearrangements in primary fibroblast cultures and in lymphocytes of patients with Werner's syndrome. Hum Genet 62:16-24
44. Schaeffer L, Roy R, Humbert S, Moncollin V, Vermeulen W, Hoeijmakers JHJ, Chambon P et al (1993) DNA repair helicase: a component of BTF2 (TFIIH) basic transcription factor. Science 260:58-63
45. Stayton CL, Dabovic B, Gulisano M, Gecz J, Broccoli V, Giovanazzi S, Bossolasco M, et al (1994) Cloning and characterization of a new human Xq13 gene, encoding a putative helicase. Hum Mol Genet 3:1957-1964
46. Stefanini M, Scappaticci S, Lagomarsini P, Borroni G, Berardesca E, Nuzzo F (1989) Chromosome instability in lymphocytes from a patient with Werner's syndrome is not associated with DNA repair defects. Mutat Res 219:179-185
47. Sumi SM (1985) Neuropathology of the Werner syndrome. Adv Exp Med Biol 190:215-217
48. Takayama K, Salazar EP, Broughton BC, Lehmann AR, Sarasin A, Thompson LH, Weber CA (1996) Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy. Am J Hum Genet 58:263-270
49. Takayama K, Salazar EP, Lehmann AR, Stefanini M, Thompson LH, Weber CA (1995) Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D. Cancer Res 55:5656-5663
50. Takeuchi F, Hanaoka F, Goto M, Akaoka I, Hori T, Yamada M, Miyamoto T (1982a) Altered frequency of initiation sites of DNA replication in Werner's syndrome cells. Hum Genet 60:365-368
51. Takeuchi F, Hanaoka F, Goto M, Yamada M-A, Miyamoto T (1982b) Prolongation of S phase and whole cell cycle in Werner's syndrome fibroblasts. Exp Gerontol 17:473-480
52. Thannhauser SJ (1945) Werner's syndrome (progeria of the adult) and Rothmund's syndrome: two types of closely related heredofamilial atrophic dermatosis with juvenile cataracts and endocrine features: a critical study with five new cases. Ann Intern Med 23:559-626
53. Tollefsbol TO, Cohen HJ (1984) Werner's syndrome: an underdiagnosed disorder resembling premature aging. Age 7:75-88
54. Troelstra C, van Gool A, Wit JD, Vermeulen W, Bootsma D, Hoeijmakers JHJ (1992) ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes. Cell 71:939-953
55. Umehara F, Abe M, Nakagawa M, Izuma S, Arimura K, Matsumuro K, Osame M (1993) Werner's syndrome associated with spastic paraparesis and peripheral neuropathy. Neurology 43:1252-1254
56. Wang XW, Yeh H, Schaeffer L, Roy R, Moncollin V, Egly JM, Wang Z, et al (1995) p53 modulation of TFIIH-associated nucleotide excision repair activity. Nat Genet 10:188-191
57. Weber JL, Wong C (1993) Mutation of human short tandem repeats. Hum Mol Genet 2:1123-1128
58. Weeda G, van Ham RCA, Vermeulen W, Bootsma D, van der Eb AJ, Hoeijmakers JHJ (1990) A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome. Cell 62:777-791
59. Werner CWO (1904) Udber kataract in Verbindung mit Sclerodermie. Schmidt & Klarnig, Kiel, Germany
60. Wood S, Schertzer M, Drabkin H, Patterson D, Longmire JL, Deaven LL (1992) Characterization of a human chromosome 8 cosmid library constructed from flow sorted chromosomes. Cytogenet Cell Genet 59:243-247
61. Yu C-E, Oshima J, Fu YH, Wijsman EM, Hisama F, Alisch R, Matthews S, et al (1996a) Positional cloning of the Werner's syndrome gene. Science 272:258-272
62. Yu C-E, Oshima J, Goddard KAB, Miki T, Nakura J, Ogihara T, Fraccaro M, et al (1994) Linkage disequilibrium and haplotype studies of chromosome 8p 11.1-21.1 markers and Werner's syndrome. Am J Hum Genet 55:356-364
63. Yu C-E, Oshima J, Hisama F, Matthews S, Trask BJ, Schellenberg GD (1996b) A YAC, P1 and cosmid contig and 17 new polymorphic markers for the Werner's syndrome region at 8p12-21. Genomics 35:431-440