Effect of XPA gene mutations on UV-induced immunostaining of PCNA in fibroblasts from xeroderma pigmentosum group A patients

Mutation Research - DNA Repair

Volumn 364, Issue 1, 1996, Pages 51-56

  Miura, Masahiko ^a   Sasaki, Takehito ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

Group A xeroderma pigmentosum (XP A); Mutation; Nucleotide excision repair; Proliferating cell nuclear antigen (PCNA); Zinc finger

Indexed keywords

CYCLINE; NUCLEOTIDE; ZINC FINGER PROTEIN;

ARTICLE; CONTROLLED STUDY; EXCISION REPAIR; FIBROBLAST; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; MUTATION; PRIORITY JOURNAL; ULTRAVIOLET RADIATION; XERODERMA PIGMENTOSUM;

EID: 0030565498     PISSN: 09218777     EISSN: None     Source Type: Journal    
DOI: 10.1016/0921-8777(96)00021-3     Document Type: Article

References (33)

1. [1] Cleaver, J.E. and K.H. Kraemer (1989) in: C.R. Scriber, A.L. Beaudet, W.S. Sly and D. Valle (Eds.). The Metabolic Basis of Inherited Disease, McGraw-Hill, New York. pp. 2949-2971.
2. [2] Sancar, A. (1994) Mechanisms of DNA excision repair. Science, 266, 1954-1956.
3. [3] Sancar, A. (1995) Excision repair in mammalian cells. J. Biol. Chem., 270, 15915-15918.
4. [4] Tanaka, K., N. Miura, I. Satokata, I. Miyamoto, M.C. Yoshida, Y. Satoh, S. Kondo, A. Yasui, H. Okayama and Y. Okada (1990) Analysis of a human excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain. Nature, 348, 73-76.
5. [5] He, Z., L.A. Henricksen, M.S. Wold and C.J. Ingles (1995) RPA involvement in the damage-recognition and incision steps of nucleotide excision repair. Nature. 374, 566-569.
6. [6] Li, L., X.Y. Lu, C.A. Peterson and R.J. Legerski (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.
7. [7] Nagai, A.,M. Saijo, I. Kuraoka, T. Matsuda, N. Kodo, Y. Nakatsu, T. Mimaki, M. Mino, M. Biggerstaff, R.D. Wood, A. Sijbers, J.H.J. Hoeijmakers and K. Tanaka (1995) Enhancement of damage-specific DNA binding of XPA by interaction with the ERCC1 DNA repair protein. Biochem. Biophys. Res. Commun., 211, 960-966.
8. [8] Tanaka, K. (1993) Molecular analysis of xeroderma pigmentosum group A gene, Jpn. J. Hum. Genet., 38, 1-14.
9. [9] Satokata, I., K. Tanaka, N. Miura, I. Miyamoto, Y. Satoh, S. Kondo and Y. Okada (1990) Characterization of a splicing mutation in group A xeroderma pigmentosum. Proc. Natl. Acad. Sci. USA, 87, 9908-9912.
10. [10] Nishigori, C., S. Moriwaki, H. Takebe, T. Tanaka and S. Imamura (1994) Gene alterations and clinical characteristics of xeroderma pigmentosum group A patients in Japan, Arch. Dermatol., 130, 191-197.
11. [11] Satokata, I., T. Tanaka and Y. Okada (1992) Molecular basis of group A xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene. Hum. Genet., 88, 603-607.
12. [12] Satokata, I., K. Tanaka, S. Yuba and Y. Okada (1992) Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A xeroderma pigmentosum. Mutation Res., 273, 203-212.
13. [13] Satokata, I., K. Tanaka, N. Miura, M. Narita, T. Mimaki, Y. Satoh, S. Kondo and Y. Okada (1992) Three nonsense mutations responsible for group A xeroderma pigmentosum. Mutation Res., 273, 193-202.
14. [14] Nishigori, C., M. Zghal, T. Yagi, S. Imamura, M.R. Komoun and H. Takebe (1993) High prevalence of the point mutation in exon 6 of the xeroderma pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosumgroup A patients in Tunisia, Am. J. Hum. Genet., 53, 1001-1006.
15. [15] Bravo, R., R. Frank, P.A. Blundell and H. Macdonald-Bravo (1987) Cyclin/PCNA is the auxiliary protein of DNA polymerase delta. Nature, 326, 515-517.
16. [16] Prelich, G., C-K. Tan, M. Kostura, M.B. Mathews, A.G. So, K.M. Downey and B. Stillman (1987) Functional identity of proliferating cell nuclear antigen and a DNA polymerase delta auxiliary protein. Nature, 326, 517-520.
17. [17] Burgers, P.M.J. (1991) Saccharomyces cerevisiae replication factor C. II. Formation and activity of complexes with the proliferating cell nuclear antigen and with DNA polymerase delta and epsilon. J. Biol. Chem., 266, 22698-22706.
18. [18] Prelich, G. and B. Stillman (1988) Coordinated leading and lagging strand synthesis during SV40 DNA replication in vitro requires PCNA. Cell. 53, 117-126.
19. [19] Shivji, M.K.K., M.K. Kenny and R.D. Wood (1992) Proliferating cell nuclear antigen is required for DNA excision repair. Cell, 69, 367-374.
20. [20] Nichols, A.F. and A. Sancar (1992) Purification of PCNA as a nucleotide excision repair protein. Nucleic Acid Res., 20, 2441-2446.
21. [21] Krishna, T.S.R., X-P. Kong, S. Gary, P.M. Burgers and J. Kuriyan (1994) Crystal structure of the eukaryotic DNA polymerase processivity factor PCNA. Cell, 79, 1233-1243.
22. [22] Bravo, R. and H. Macdonald-Bravo (1987) Existence of two populations of cyclin/proliferating cell nuclear antigen during the cell cycle: Association with DNA replication sites. J. Cell Biol., 105, 1549-1554.
23. [23] Miura, M., M. Domon, T. Sasaki and Y. Takasaki (1992) Induction of proliferating cell nuclear antigen (PCNA) complex formation in quiescent fibroblasts from a xeroderma pigmentosum patient. J. Cell. Physiol., 150, 370-376.
24. [24] Aboussekhra, A. and R.D. Wood (1995) Detection of nucleotide excision repair incisions in human fibroblasts by immunostaining for PCNA. Exp. Cell Res., 221, 326-332.
25. [25] Miura, M., M. Domon, T. Sasaki, S. Kondo and Y. Takasaki (1992) Two types of proliferating cell nuclear antigen (PCNA) complex formation in quiescent normal and xeroderma pigmentosum group A fibroblasts following ultraviolet light (UV) irradiation. Exp. Cell Res., 201, 541-544.
26. [26] Miyamoto, I., N. Miura, H. Niwa, J. Miyazaki and K. Tanaka (1992) Mutational analysis of the structure and function of the xeroderma pigmentosum group A complementing protein. J. Biol. Chem., 267, 12182-12187.
27. [27] Miura, N., I. Miyamoto, H. Asahina, I. Satokata, K. Tanaka and Y. Okada (1991) Identification and characterization of xpac protein, the gene product of the human XPAC (xeroderma pigmentosum group A complementing) gene. J. Biol. Chem., 266, 19786-19789.
28. [28] Muro, Y., Wei-Min Tsai, R. Houghten and E.M. Tan (1994) Synthetic compound peptide simulating antigenicity of conformation-dependent autoepitope. J. Biol. Chem., 269, 18529-18534.
29. [29] Toschi, L. and R. Bravo (1988) Changes in cyclin/proliferating cell nuclear antigen distribution during DNA repair synthesis. J. Cell Biol., 107, 1623-1628.
30. [30] Tan, C.-K., K. Sullivan, X. Li, E.M. Tan, K.M. Downey and A.G. So (1987) Autoantibody to the proliferating cell nuclear antibody neutralizes the activity of the auxiliary protein for DNA polymerase delta. Nucleic Acids Res., 15, 9299-9308.
31. [31] Prosperi, E., L.A. Stivala, E. Sala, A.I. Scovassi and L. Bianchi (1993) Proliferating cell nuclear antigen complex formation induced by ultraviolet irradiation in human quiescent fibroblasts as detected by immunostaining and flow cytometry. Exp. Cell Res., 205, 320-325.
32. [32] Li, R., G.J. Hannon, D. Beach and B. Stillman (1996) Subcellular distribution of p21 and PCNA in normal and repair-deficient cells following DNA damage. Curr. Biol., 6, 189-199.
33. [33] Kaufmann, W.K. and L.P. Briley (1987) Formation of DNA strand breaks in UV-induced human fibroblast preparations. Mutation Res., 184, 47-55.