메뉴 건너뛰기




Volumn 7, Issue 2, 2009, Pages 37-42

The versatile DNA nucleotide excision repair (NER) and its medical significance

Author keywords

Cockayne syndrome (CS); DNA damage; DNA repair; Trichothiodystrophy (TTD); UV sensitive syndrome (UVSS); Xeroderma pigmentosum

Indexed keywords

DNA; PROTEIN;

EID: 78650001960     PISSN: 15654753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (4)

References (37)
  • 2
    • 0025848680 scopus 로고
    • The International Collaborative Group on hereditary non-potyposis colorectal cancer (ICG-HNPCC)
    • Vasen HF, Mecklin JP, Khan PM, Lynch HT. The International Collaborative Group on hereditary non-potyposis colorectal cancer (ICG-HNPCC). Dis Colon Rectum 1991;34:424-425
    • (1991) Dis Colon Rectum , vol.34 , pp. 424-425
    • Vasen, H.F.1    Mecklin, J.P.2    Khan, P.M.3    Lynch, H.T.4
  • 3
    • 0034054019 scopus 로고    scopus 로고
    • Nucleotide excision repair and human syndromes
    • De Boer J, Hoeijmakers JHJ. Nucleotide excision repair and human syndromes. Carcinogenesis 2000;21:453-460
    • (2000) Carcinogenesis , vol.21 , pp. 453-460
    • De Boer, J.1    Hoeijmakers, J.H.J.2
  • 4
    • 0037115936 scopus 로고    scopus 로고
    • Subpathways of nucleotide excision repair and their regulation
    • Hanawalt PC. Subpathways of nucleotide excision repair and their regulation. Oncogene 2002;21:8,949-8,956
    • (2002) Oncogene , vol.21
    • Hanawalt, P.C.1
  • 5
    • 33646865105 scopus 로고    scopus 로고
    • The protein shuffle: Sequential interactions among components of the human nucleotide excision repair pathway
    • Park CJ, Choi BS. The protein shuffle: sequential interactions among components of the human nucleotide excision repair pathway. FEBS J 2006:273:1,600-1,608
    • (2006) FEBS J , vol.273
    • Park, C.J.1    Choi, B.S.2
  • 7
    • 0023130695 scopus 로고
    • Xeroderma pigmentosum: Cutaneous, ocular, and neurological abnormalities in 830 published cases
    • Kraemer KH, Lee MM, Scotto J. Xeroderma pigmentosum: cutaneous, ocular, and neurological abnormalities in 830 published cases. Arch Dermatol 1987;123:241-250
    • (1987) Arch Dermatol , vol.123 , pp. 241-250
    • Kraemer, K.H.1    Lee, M.M.2    Scotto, J.3
  • 8
    • 0021282448 scopus 로고
    • DNA repair protects against cutaneous and internal neoplasia: Evidence from xeroderma pigmentosum
    • Kraemer K H, Lee MM, Scotto J. DNA repair protects against cutaneous and internal neoplasia: evidence from xeroderma pigmentosum. Carcinogenesis 1984;5:511-514
    • (1984) Carcinogenesis , vol.5 , pp. 511-514
    • Kraemer, K.H.1    Lee, M.M.2    Scotto, J.3
  • 12
    • 0346101496 scopus 로고    scopus 로고
    • Cockayne syndrome group B cetlular and biochemical functions
    • Licht CL, Stevnsner T, Bohr VA. Cockayne syndrome group B cetlular and biochemical functions. Am J Hum Genet 2003;73:1,217-1,239
    • (2003) Am J Hum Genet , vol.73
    • Licht, C.L.1    Stevnsner, T.2    Bohr, V.A.3
  • 14
    • 0026465665 scopus 로고
    • ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes
    • Troetstra C, van Gool A, de Wit J, Vermeulen W, Bootsma D, Hoeijmakers JH. ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes. Cell 1992;71:939-953
    • (1992) Cell , vol.71 , pp. 939-953
    • Troetstra, C.1    Van Gool, A.2    De Wit, J.3    Vermeulen, W.4    Bootsma, D.5    Hoeijmakers, J.H.6
  • 16
    • 0034054019 scopus 로고    scopus 로고
    • Nucleotide excision repair and human syndromes
    • de Bohr J, Hoeijmarkers JH. Nucleotide excision repair and human syndromes. Carcinogenesis 2000;21:453-460
    • (2000) Carcinogenesis , vol.21 , pp. 453-460
    • De Bohr, J.1    Hoeijmarkers, J.H.2
  • 19
    • 7444270518 scopus 로고    scopus 로고
    • The many faces of Cockayne syndrome
    • Spivak G. The many faces of Cockayne syndrome. Proc Natl Acad Sci USA 2004;101:15,273-15,274
    • (2004) Proc Natl Acad Sci USA , vol.101
    • Spivak, G.1
  • 20
    • 0014275038 scopus 로고
    • Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair
    • Pollitt RJ, Jenner FA, Davies M. Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair. Arch Dis Child 1968;43:211-216
    • (1968) Arch Dis Child , vol.43 , pp. 211-216
    • Pollitt, R.J.1    Jenner, F.A.2    Davies, M.3
  • 21
    • 54049139573 scopus 로고    scopus 로고
    • Trichothiodystrophy: A systematic review of 112 published cases characterises a wide spectrum of clinical manifestations
    • Faghri S, Tamura D, Kraemer KH, Digiovanna JJ. Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations. J Med Genet 2008;45:609-621
    • (2008) J Med Genet , vol.45 , pp. 609-621
    • Faghri, S.1    Tamura, D.2    Kraemer, K.H.3    Digiovanna, J.J.4
  • 22
    • 16944363270 scopus 로고    scopus 로고
    • A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy
    • Weeda G, Eveno E, Donker I, Vermeulen W, Chevallier-Lagente O, et al. A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. Am J Hum Genet 1997;60:320-329
    • (1997) Am J Hum Genet , vol.60 , pp. 320-329
    • Weeda, G.1    Eveno, E.2    Donker, I.3    Vermeulen, W.4    Chevallier-Lagente, O.5
  • 23
    • 0022868911 scopus 로고
    • Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity
    • Stefanini M, Lagomarsini P, Arlett CF, Marinoni S, Borrone C, et al. Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity. Hum Genet 1986;74:107-112
    • (1986) Hum Genet , vol.74 , pp. 107-112
    • Stefanini, M.1    Lagomarsini, P.2    Arlett, C.F.3    Marinoni, S.4    Borrone, C.5
  • 24
    • 3042781670 scopus 로고    scopus 로고
    • A new tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A
    • Giglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, et al. A new tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A. Nat Genet 2004;36:714-719
    • (2004) Nat Genet , vol.36 , pp. 714-719
    • Giglia-Mari, G.1    Coin, F.2    Ranish, J.A.3    Hoogstraten, D.4    Theil, A.5
  • 25
    • 0026802039 scopus 로고
    • Factors involved in specific transcription by mammalian RNA polymerase II. Identification and characterization of factor IIH
    • Flores O, Lu H, Reinberg D. Factors involved in specific transcription by mammalian RNA polymerase II. Identification and characterization of factor IIH. J Biol Chem 1992;267:2,786-2,793
    • (1992) J Biol Chem , vol.267
    • Flores, O.1    Lu, H.2    Reinberg, D.3
  • 26
    • 0027905008 scopus 로고
    • DNA repair helicase: A component of BTR (TFIIH) basic transcription factor
    • Schaeffer L, Roy R, Humbert S, Moncollin V, Vermeulen W, et al. DNA repair helicase: A component of BTR (TFIIH) basic transcription factor. Science 1993;260:58-63
    • (1993) Science , vol.260 , pp. 58-63
    • Schaeffer, L.1    Roy, R.2    Humbert, S.3    Moncollin, V.4    Vermeulen, W.5
  • 27
    • 24044522541 scopus 로고    scopus 로고
    • UV-sensitive syndrome
    • Spivak, G. UV-sensitive syndrome. Mutat Res 2005;577:162-169
    • (2005) Mutat Res , vol.577 , pp. 162-169
    • Spivak, G.1
  • 28
    • 0037031218 scopus 로고    scopus 로고
    • Ultraviolet-sensitive syndrome cells are defective in transcription-coupled repair of cyclobutane pyrimidine dimers
    • Spivak, G, Itoh T, Matsunaga T, Nikaido O, Hanawalt P, Yamaizumi M. Ultraviolet-sensitive syndrome cells are defective in transcription-coupled repair of cyclobutane pyrimidine dimers. DNA Repair 2002;1:629-643
    • (2002) DNA Repair , vol.1 , pp. 629-643
    • Spivak, G.1    Itoh, T.2    Matsunaga, T.3    Nikaido, O.4    Hanawalt, P.5    Yamaizumi, M.6
  • 29
    • 29244483920 scopus 로고    scopus 로고
    • Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts
    • Spivak G, Hanawalt PC. Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts. DNA Repair 2006;5:13-22
    • (2006) DNA Repair , vol.5 , pp. 13-22
    • Spivak, G.1    Hanawalt, P.C.2
  • 32
    • 0038002404 scopus 로고    scopus 로고
    • The impact of congenital malformations and Mendelian diseases on infant mortality in Israel
    • Zlotogora J, Leventhal A, Amitai Y.The impact of congenital malformations and Mendelian diseases on infant mortality in Israel. Isr Med Assoc J 2003;5:416-418
    • (2003) Isr Med Assoc J , vol.5 , pp. 416-418
    • Zlotogora, J.1    Leventhal, A.2    Amitai, Y.3
  • 33
    • 44449119994 scopus 로고    scopus 로고
    • Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6
    • Falik-Zaccai TC, Laskar M, Kfir N, Nasser W, Slor H, Khayat M.Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6. Am J Med Genet A 2008;146A:1,423-1,429
    • (2008) Am J Med Genet A , vol.146 A
    • Falik-Zaccai, T.C.1    Laskar, M.2    Kfir, N.3    Nasser, W.4    Slor, H.5    Khayat, M.6
  • 35
    • 84969013579 scopus 로고
    • Human Fibroblast Strain with Normal Survival but Abnormal Postreptication Repair after Ultraviolet Light Irradiation
    • Doniger J, Susanna L, Barrett F, Robbins JH. Human Fibroblast Strain with Normal Survival but Abnormal Postreptication Repair after Ultraviolet Light Irradiation. Cancer Research 1980;40:2,736-2,739
    • (1980) Cancer Research , vol.40
    • Doniger, J.1    Susanna, L.2    Barrett, F.3    Robbins, J.H.4
  • 36
    • 0033527717 scopus 로고    scopus 로고
    • Requirement of ATM dependent phosphorylation of BRCA1 in the DNA damage response to double-strand breaks
    • Cortez D, Wang Y, Qin J, Elledge SJ. Requirement of ATM dependent phosphorylation of BRCA1 in the DNA damage response to double-strand breaks. Science 1999;286:1,162-1,166
    • (1999) Science , vol.286
    • Cortez, D.1    Wang, Y.2    Qin, J.3    Elledge, S.J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.