메뉴 건너뛰기




Volumn 20, Issue 4, 1997, Pages 755-762

Human DNA repair diseases: From genome instability to cancer

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIA TELANGIECTASIA; BLOOM SYNDROME; CLINICAL FEATURE; COCKAYNE SYNDROME; DNA REPAIR; EXCISION REPAIR; FAMILIAL CANCER; FANCONI ANEMIA; HUMAN; HUMAN CELL; REVIEW; TRICHOTHIODYSTROPHY; WERNER SYNDROME; XERODERMA PIGMENTOSUM;

EID: 0031436034     PISSN: 01008455     EISSN: None     Source Type: Journal    
DOI: 10.1590/S0100-84551997000400032     Document Type: Review
Times cited : (8)

References (39)
  • 2
    • 84944972302 scopus 로고
    • Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs
    • Bloom, D. (1954). Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs. Am. J. Dis. Child. 88: 754-758.
    • (1954) Am. J. Dis. Child. , vol.88 , pp. 754-758
    • Bloom, D.1
  • 3
    • 0021905437 scopus 로고
    • DNA repair in an active gene: Removal of pyrimidine dimers from the DHFR gene of CHO cells is much more efficient than in the genome overall
    • Bohr, V.A., Smith, C.A., Okumoto, D.S. and Hanawalt, P.C. (1985). DNA repair in an active gene: removal of pyrimidine dimers from the DHFR gene of CHO cells is much more efficient than in the genome overall. Cell 40: 359-369.
    • (1985) Cell , vol.40 , pp. 359-369
    • Bohr, V.A.1    Smith, C.A.2    Okumoto, D.S.3    Hanawalt, P.C.4
  • 4
    • 0026329699 scopus 로고
    • The genetic basis of xeroderma pigmentosum
    • Bootsma, D. and Hoeijmakers, J.H.J. (1991). The genetic basis of xeroderma pigmentosum. Ann. Genet. 34: 143-150.
    • (1991) Ann. Genet. , vol.34 , pp. 143-150
    • Bootsma, D.1    Hoeijmakers, J.H.J.2
  • 5
    • 0014421995 scopus 로고
    • Defective repair replication of DNA in xeroderma pigmentosum
    • Cleaver, J.E. (1968). Defective repair replication of DNA in xeroderma pigmentosum. Nature 218: 652-656.
    • (1968) Nature , vol.218 , pp. 652-656
    • Cleaver, J.E.1
  • 6
    • 0031025997 scopus 로고    scopus 로고
    • Defective transcription-coupled repair of oxidative base damage in Cockayne syndrome patients from XP group G
    • Cooper, P.K., Nouspikel, T., Clarkson, S.G. and Leadon, S.A. (1997). Defective transcription-coupled repair of oxidative base damage in Cockayne syndrome patients from XP group G. Science 275: 990-993.
    • (1997) Science , vol.275 , pp. 990-993
    • Cooper, P.K.1    Nouspikel, T.2    Clarkson, S.G.3    Leadon, S.A.4
  • 9
    • 0028813895 scopus 로고
    • Microsatellite instability in inherited and sporadic neoplasms
    • Eshleman, J.R. and Markowitz, S.D. (1995). Microsatellite instability in inherited and sporadic neoplasms. Curr. Opin. Oncol. 7: 83-89.
    • (1995) Curr. Opin. Oncol. , vol.7 , pp. 83-89
    • Eshleman, J.R.1    Markowitz, S.D.2
  • 10
    • 0030013201 scopus 로고    scopus 로고
    • Relationships between DNA repair and transcription
    • Friedberg, E.C. (1996). Relationships between DNA repair and transcription. Annu. Rev. Biochem. 65: 15-42.
    • (1996) Annu. Rev. Biochem. , vol.65 , pp. 15-42
    • Friedberg, E.C.1
  • 11
    • 0017357401 scopus 로고
    • Ultraviolet light sensitivity and delayed DNA-chain maturation in Bloom syndrome fibroblasts
    • Giannelli, F., Benson, P.F., Pawsey, S.A. and Polani, P.E. (1977). Ultraviolet light sensitivity and delayed DNA-chain maturation in Bloom syndrome fibroblasts. Nature 265: 466-469.
    • (1977) Nature , vol.265 , pp. 466-469
    • Giannelli, F.1    Benson, P.F.2    Pawsey, S.A.3    Polani, P.E.4
  • 12
    • 0028352861 scopus 로고
    • Transcription factors IIE and IIH and ATP hydrolysis direct promoter clearance by RNA polymerase II
    • Goodrich, J.A. and Tjian, R. (1994). Transcription factors IIE and IIH and ATP hydrolysis direct promoter clearance by RNA polymerase II. Cell 77: 145-156.
    • (1994) Cell , vol.77 , pp. 145-156
    • Goodrich, J.A.1    Tjian, R.2
  • 13
    • 0028929611 scopus 로고
    • RPA involvement in the damage-recognition and incision steps of nucleotide excision repair
    • He, Z., Henricksen, L.A., Wold, M.S. and Ingles, C.J. (1995). RPA involvement in the damage-recognition and incision steps of nucleotide excision repair. Nature 374: 566-569.
    • (1995) Nature , vol.374 , pp. 566-569
    • He, Z.1    Henricksen, L.A.2    Wold, M.S.3    Ingles, C.J.4
  • 14
    • 0024148621 scopus 로고
    • Genetic complementation analysis of Ataxia Telangiectasia and Nijmegen breakage syndrome: A survey of 50 patients
    • Jaspers, N.G.J., Gatti, R.A., Baan, C., Linssen, P.C.M.L. and Bootsma, D. (1988). Genetic complementation analysis of Ataxia Telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients. Cytogenet. Cell Genet. 49: 259-263.
    • (1988) Cytogenet. Cell Genet. , vol.49 , pp. 259-263
    • Jaspers, N.G.J.1    Gatti, R.A.2    Baan, C.3    Linssen, P.C.M.L.4    Bootsma, D.5
  • 15
    • 0028328372 scopus 로고
    • Colon cancer and DNA repair: Have mismatches met their match?
    • Jiricny, J. (1994). Colon cancer and DNA repair: have mismatches met their match? Trends Genet. 10: 164-168.
    • (1994) Trends Genet. , vol.10 , pp. 164-168
    • Jiricny, J.1
  • 17
    • 0029129283 scopus 로고
    • An interaction between the DNA repair factor XPA and replication protein A appears essential for nucleotide excision repair
    • Li, L., Lu, X., Peterson, C.A. and Legerski, R.J. (1995). An interaction between the DNA repair factor XPA and replication protein A appears essential for nucleotide excision repair. Mol. Cell. Biol. 15: 5396-5402.
    • (1995) Mol. Cell. Biol. , vol.15 , pp. 5396-5402
    • Li, L.1    Lu, X.2    Peterson, C.A.3    Legerski, R.J.4
  • 19
    • 0029132176 scopus 로고
    • Human DNA repair excision nuclease. Analysis of the roles of the subunits involved in dual incisions by using anti-XPG and anti-ERCC1 antibodies
    • Matsunaga, T., Mu, D., Park, C.H., Reardon, J.T. and Sancar, A. (1995). Human DNA repair excision nuclease. Analysis of the roles of the subunits involved in dual incisions by using anti-XPG and anti-ERCC1 antibodies. J. Biol. Chem. 270: 20862-20869.
    • (1995) J. Biol. Chem. , vol.270 , pp. 20862-20869
    • Matsunaga, T.1    Mu, D.2    Park, C.H.3    Reardon, J.T.4    Sancar, A.5
  • 20
    • 0028896837 scopus 로고
    • Reconstitution of human DNA repair excision nuclease in a highly defined system
    • Mu, D., Park, C.H., Matsunaga, T., Hsu, D.S., Reardon, J.T. and Sancar, A. (1995). Reconstitution of human DNA repair excision nuclease in a highly defined system. J. Biol. Chem. 270: 2415-2418.
    • (1995) J. Biol. Chem. , vol.270 , pp. 2415-2418
    • Mu, D.1    Park, C.H.2    Matsunaga, T.3    Hsu, D.S.4    Reardon, J.T.5    Sancar, A.6
  • 21
    • 0026508774 scopus 로고
    • Cockayne syndrome: Review of 140 cases
    • Nance, M.A. and Berry, A.S. (1992). Cockayne syndrome: review of 140 cases. Am. J. Med. Genet. 42: 68-84.
    • (1992) Am. J. Med. Genet. , vol.42 , pp. 68-84
    • Nance, M.A.1    Berry, A.S.2
  • 22
    • 0028304833 scopus 로고
    • Formation of a ternary complex by human XPA, ERCC1, and ERCC4(XPF) excision repair proteins
    • Park, C.H. and Sancar, A. (1994). Formation of a ternary complex by human XPA, ERCC1, and ERCC4(XPF) excision repair proteins. Proc. Natl. Acad. Sci. USA 91: 5017-5021.
    • (1994) Proc. Natl. Acad. Sci. USA , vol.91 , pp. 5017-5021
    • Park, C.H.1    Sancar, A.2
  • 23
    • 0028932889 scopus 로고
    • The general transcription-repair factor TFIIH is recruited to the excision repair complex by the XPA protein independent of the TFIIE transcription factor
    • Park, C.H., Mu, D., Reardon, J.T. and Sancar, A. (1995). The general transcription-repair factor TFIIH is recruited to the excision repair complex by the XPA protein independent of the TFIIE transcription factor. J. Biol. Chem. 270: 4896-4902.
    • (1995) J. Biol. Chem. , vol.270 , pp. 4896-4902
    • Park, C.H.1    Mu, D.2    Reardon, J.T.3    Sancar, A.4
  • 25
    • 0029892790 scopus 로고    scopus 로고
    • DNA excision repair
    • Sancar, A. (1996). DNA excision repair. Annu. Rev. Biochem. 65: 43-81.
    • (1996) Annu. Rev. Biochem. , vol.65 , pp. 43-81
    • Sancar, A.1
  • 30
    • 0026521238 scopus 로고
    • Cloning of a cDNAs for Fanconi's anemia by functional complementation
    • Strathdee, C.A., Gavish, H., Shannon, W.R. and Buchwald, M. (1992). Cloning of a cDNAs for Fanconi's anemia by functional complementation. Nature 356: 763-767.
    • (1992) Nature , vol.356 , pp. 763-767
    • Strathdee, C.A.1    Gavish, H.2    Shannon, W.R.3    Buchwald, M.4
  • 31
    • 0023244806 scopus 로고
    • Breast and other cancers in families with ataxia-telangiectasia
    • Swift, M., Reitnauer, P.J., Morrell, D. and Chase, C.L. (1987). Breast and other cancers in families with ataxia-telangiectasia. N. Engl. J. Med. 316: 1289-1294.
    • (1987) N. Engl. J. Med. , vol.316 , pp. 1289-1294
    • Swift, M.1    Reitnauer, P.J.2    Morrell, D.3    Chase, C.L.4
  • 34
    • 0030854142 scopus 로고    scopus 로고
    • Elevated homologous recombination activity in Fanconi's anemia fibroblasts
    • Thyagarajan, B. and Campbell, C. (1997). Elevated homologous recombination activity in Fanconi's anemia fibroblasts. J. Biol. Chem. 272: 23328-23333.
    • (1997) J. Biol. Chem. , vol.272 , pp. 23328-23333
    • Thyagarajan, B.1    Campbell, C.2
  • 35
    • 0026465665 scopus 로고
    • ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne syndrome and preferential repair of active genes
    • Troelstra, C., van Gool, A., de Wit, J., Vermeulen, W., Bootsma, D. and Hoeijmakers, J.H.J. (1992). ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne syndrome and preferential repair of active genes. Cell 71: 939-953.
    • (1992) Cell , vol.71 , pp. 939-953
    • Troelstra, C.1    Van Gool, A.2    De Wit, J.3    Vermeulen, W.4    Bootsma, D.5    Hoeijmakers, J.H.J.6
  • 36
    • 0028985014 scopus 로고
    • Transcription-coupled repair removes both cyclobutane pyrimidine dimers and 6-4 photoproducts with equal efficiency and in a sequential way from transcribed DNA in Xeroderma Pigmentosum group C fibroblasts
    • van Hoffen, A., Venema, J., Meschini, R., van Zeeland, A.A. and Mullenders, H.F. (1995). Transcription-coupled repair removes both cyclobutane pyrimidine dimers and 6-4 photoproducts with equal efficiency and in a sequential way from transcribed DNA in Xeroderma Pigmentosum group C fibroblasts. EMBO J. 14: 360-367.
    • (1995) EMBO J. , vol.14 , pp. 360-367
    • Van Hoffen, A.1    Venema, J.2    Meschini, R.3    Van Zeeland, A.A.4    Mullenders, H.F.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.