Developmental Defects and Male Sterility in Mice Lacking the Ubiquitin-Like DNA Repair Gene mHR23B

REFERENCES

• Araki, M., C. Masutani, M. Takemura, A. Uchida, K. Sugasawa, J. Kondoh, Y. Ohkuma, and F. Hanaoka. 2001. Centrosome protein centrin 2/caltractin 1 is part of the xeroderma pigmentosum group C complex that initiates global genome nucleotide excision repair. J. Biol. Chem. 276: 18665–18672.
   PubMed Web of Science ®Google Scholar
• Baarends, W. M., R. van der Laan, and J. A. Grootegoed. 2000. Specific aspects of the ubiquitin system in spermatogenesis. J. Endocrinol. Investig. 23: 597–604.
   PubMedGoogle Scholar
• Bootsma, D., K. H. Kraemer, J. E. Cleaver, and J. H. J. Hoeijmakers. 2001. Nucleotide excision repair syndromes: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy, p. 677–703. In C. R. Scriver, A. L. Beaudet, W. S. Sly, D. Valle, B. Vogelstein, and K. W. Kinzler (ed.), The metabolic and molecular bases of inherited disease, vol. 1. McGraw-Hill Book Co., New York, N.Y.
   Google Scholar
• Cheo, D. L., L. B. Meira, R. E. Hammer, D. K. Burns, A. T. Doughty, and E. C. Friedberg. 1996. Synergistic interactions between XPC and p53 mutations in double-mutant mice: neural tube abnormalities and accelerated UV radiation-induced skin cancer. Curr. Biol. 6: 1691–1694.
   PubMedGoogle Scholar
• Chomczynski, P., and N. Sacchi. 1987. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal. Biochem. 162: 156–159.
   PubMed Web of Science ®Google Scholar
• Cross, J. C., Z. Werb, and S. J. Fisher. 1994. Implantation and the placenta: key pieces of the development puzzle. Science 266: 1508–1518.
   PubMed Web of Science ®Google Scholar
• de Boer, J., and J. H. J. Hoeijmakers. 2000. Nucleotide excision repair and human syndromes. Carcinogenesis 21: 453–460.
   PubMed Web of Science ®Google Scholar
• de Boer, J., H. van Steeg, R. J. Berg, J. Garssen, J. de Wit, C. T. van Oostrum, R. B. Beems, G. T. van der Horst, C. F. van Kreijl, F. R. de Gruijl, D. Bootsma, J. H. J. Hoeijmakers, and G. Weeda. 1999. Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition. Cancer Res. 59: 3489–3494.
   PubMedGoogle Scholar
• de Bruijn, W. C. 1973. Glycogen, its chemistry and morphologic appearance in the electron microscope. I. A modified OsO4 fixative which selectively contrasts glycogen. J. Ultrastruct. Res. 42: 29–50.
   PubMedGoogle Scholar
• de Laat, W. L., N. G. Jaspers, and J. H. J. Hoeijmakers. 1999. Molecular mechanism of nucleotide excision repair. Genes Dev. 13: 768–785.
   PubMed Web of Science ®Google Scholar
• de Vries, A., C. T. van Oostrom, F. M. Hofhuis, P. M. Dortant, R. J. Berg, F. R. de Gruijl, P. W. Wester, C. F. van Kreijl, P. J. Capel, H. van Steeg, et al. 1995. Increased susceptibility to ultraviolet-B and carcinogens of mice lacking the DNA excision repair gene XPA. Nature 377: 169–173.
   PubMed Web of Science ®Google Scholar
• Friedberg, E. C., G. C. Walker, and W. Siede. 1995. DNA repair and mutagenesis. ASM Press, Washington, D.C.
   Google Scholar
• Grootegoed, J. A., W. M. Baarends, H. P. Roest, and J. H. Hoeijmakers. 1998. Knockout mouse model and gametogenic failure. Mol. Cell. Endocrinol. 145: 161–166.
   PubMedGoogle Scholar
• Guzder, S. N., P. Sung, L. Prakash, and S. Prakash. 1998. Affinity of yeast nucleotide excision repair factor 2, consisting of the Rad4 and Rad23 proteins, for ultraviolet damaged DNA. J. Biol. Chem. 273: 31541–31546.
   PubMed Web of Science ®Google Scholar
• Hamel, B. C., A. Raams, A. R. Schuitema-Dijkstra, P. Simons, I. van der Burgt, N. G. Jaspers, and W. J. Kleijer. 1996. Xeroderma pigmentosum-Cockayne syndrome complex: a further case. J. Med. Genet. 33: 607–610.
   PubMedGoogle Scholar
• Hanawalt, P. C. 2000. DNA repair. The bases for Cockayne syndrome. Nature 405: 415–416.
   PubMed Web of Science ®Google Scholar
• Hanawalt, P. C., B. A. Donahue, and K. S. Sweder. 1994. Repair and transcription. Collision or collusion? Curr. Biol. 4: 518–521.
   PubMed Web of Science ®Google Scholar
• Harbers, K., U. Muller, A. Grams, E. Li, R. Jaenisch, and T. Franz. 1996. Provirus integration into a gene encoding a ubiquitin-conjugating enzyme results in a placental defect and embryonic lethality. Proc. Natl. Acad. Sci. USA 93: 12412–12417.
   PubMedGoogle Scholar
• Heard, J. M., P. Herbomel, M. O. Ott, A. Mottura-Rollier, M. Weiss, and M. Yaniv. 1987. Determinants of rat albumin promoter tissue specificity analyzed by an improved transient expression system. Mol. Cell. Biol. 7: 2425–2434.
   PubMedGoogle Scholar
• Hiyama, H., M. Yokoi, C. Masutani, K. Sugasawa, T. Maekawa, K. Tanaka, J. H. J. Hoeijmakers, and F. Hanaoka. 1999. Interaction of hHR23 with s5a. The ubiquitin-like domain of hhr23 mediates interaction with s5a subunit of 26s proteasome. J. Biol. Chem. 274: 28019–28025.
   PubMed Web of Science ®Google Scholar
• Hofmann, K., and P. Bucher. 1996. The UBA domain: a sequence motif present in multiple enzyme classes of the ubiquitination pathway. Trends Biochem. Sci. 21: 172–173.
   PubMed Web of Science ®Google Scholar
• Huang, A. J., S. C. Tseng, and K. R. Kenyon. 1991. Change of paracellular permeability of ocular surface epithelium by vitamin A deficiency. Invest. Ophthalmol. Vis. Sci. 32: 633–639.
   PubMedGoogle Scholar
• Kumar, S., A. L. Talis, and P. M. Howley. 1999. Identification of HHR23A as a substrate for E6-associated protein-mediated ubiquitination. J. Biol. Chem. 274: 18785–18792.
   PubMed Web of Science ®Google Scholar
• Lombaerts, M., J. I. Goeloe, H. den Dulk, J. A. Brandsma, and J. Brouwer. 2000. Identification and characterization of the rhp23(+) DNA repair gene in Schizosaccharomyces pombe. Biochem. Biophys. Res. Commun. 268: 210–215.
   PubMedGoogle Scholar
• Masutani, C., M. Araki, K. Sugasawa, P. J. van der Spek, A. Yamada, A. Uchida, T. Maekawa, D. Bootsma, J. H. J. Hoeijmakers, and F. Hanaoka. 1997. Identification and characterization of XPC-binding domain of hHR23 B. Mol. Cell. Biol. 17: 6915–6923.
   Google Scholar
• Masutani, C., K. Sugasawa, J. Yanagisawa, T. Sonoyama, M. Ui, T. Enomoto, K. Takio, K. Tanaka, P. J. van der Spek, D. Bootsma, et al. 1994. Purification and cloning of a nucleotide excision repair complex involving the xeroderma pigmentosum group C protein and a human homologue of yeast RAD23. EMBO J. 13: 1831–1843.
   PubMed Web of Science ®Google Scholar
• Mayne, L. V., and A. R. Lehmann. 1982. Failure of RNA synthesis to recover after UV irradiation: an early defect in cells from individuals with Cockayne's syndrome and xeroderma pigmentosum. Cancer Res. 42: 1473–1478.
   PubMed Web of Science ®Google Scholar
• Mueller, J. P., and M. J. Smerdon. 1996. Rad23 is required for transcription-coupled repair and efficient overall repair in Saccharomyces cerevisiae. Mol. Cell. Biol. 16: 2361–2368.
   PubMedGoogle Scholar
• Nakane, H., S. Takeuchi, S. Yuba, M. Saijo, Y. Nakatsu, H. Murai, Y. Nakatsuru, T. Ishikawa, S. Hirota, Y. Kitamura, et al. 1995. High incidence of ultraviolet-B or chemical-carcinogen-induced skin tumours in mice lacking the xeroderma pigmentosum group A gene. Nature 377: 165–168.
   PubMed Web of Science ®Google Scholar
• Perry, W. L., C. M. Hustad, D. A. Swing, T. N. O'Sullivan, N. A. Jenkins, and N. G. Copeland. 1998. The itchy locus encodes a novel ubiquitin protein ligase that is disrupted in a 18H mice. Nat. Genet. 18: 143–146.
   PubMed Web of Science ®Google Scholar
• Pizzuti, A., G. Novelli, A. Ratti, F. Amati, A. Mari, G. Calabrese, S. Nicolis, V. Silani, B. Marino, G. Scarlato, S. Ottolenghi, and B. Dallapiccola. 1997. UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. Hum. Mol. Genet. 6: 259–265.
   PubMedGoogle Scholar
• Russell, L. D., L. R. Franca, and R. L. Brinster. 1996. Ultrastructural observations of spermatogenesis in mice resulting from transplantation of mouse spermatogonia. J. Androl. 17: 603–614.
   PubMedGoogle Scholar
• Russell, S. J., S. H. Reed, W. Huang, E. C. Friedberg, and S. A. Johnston. 1999. The 19S regulatory complex of the proteasome functions independently of proteolysis in nucleotide excision repair. Mol. Cell 3: 687–695.
   PubMedGoogle Scholar
• Sands, A. T., A. Abuin, A. Sanchez, C. J. Conti, and A. Bradley. 1995. High susceptibility to ultraviolet-induced carcinogenesis in mice lacking XPC. Nature 377: 162–165.
   PubMedGoogle Scholar
• Schauber, C., L. Chen, P. Tongaonkar, I. Vega, D. Lambertson, W. Potts, and K. Madura. 1998. Rad23 links DNA repair to the ubiquitin/proteasome pathway. Nature 391: 715–718.
   PubMed Web of Science ®Google Scholar
• Sijbers, A. M., W. L. de Laat, R. R. Ariza, M. Biggerstaff, Y. F. Wei, J. G. Moggs, K. C. Carter, B. K. Shell, E. Evans, M. C. de Jong, S. Rademakers, J. de Rooij, N. G. Jaspers, J. H. J. Hoeijmakers, and R. D. Wood. 1996. Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease. Cell 86: 811–822.
   PubMed Web of Science ®Google Scholar
• Sugasawa, K., C. Masutani, A. Uchida, T. Maekawa, P. J. van der Spek, D. Bootsma, J. H. J. Hoeijmakers, and F. Hanaoka. 1996. HHR23B, a human Rad23 homolog, stimulates XPC protein in nucleotide excision repair in vitro. Mol. Cell. Biol. 16: 4852–4861.
   PubMedGoogle Scholar
• Sugasawa, K., J. M. Y. Ng, C. Masutani, S. Iwai, P. J. van der Spek, A. P. Eker, F. Hanaoka, D. Bootsma, and J. H. J. Hoeijmakers. 1998. Xeroderma pigmentosum group C protein complex is the initiator of global genome nucleotide excision repair. Mol. Cell 2: 223–232.
   PubMed Web of Science ®Google Scholar
• Sugasawa, K., J. M. Y. Ng, C. Masutani, T. Maekawa, A. Uchida, P. J. van der Spek, A. P. Eker, S. Rademakers, C. Visser, A. Aboussekhra, R. D. Wood, F. Hanaoka, D. Bootsma, and J. H. J. Hoeijmakers. 1997. Two human homologs of Rad23 are functionally interchangeable in complex formation and stimulation of XPC repair activity. Mol. Cell. Biol. 17: 6924–6931.
   PubMedGoogle Scholar
• van der Horst, G. T., H. van Steeg, R. J. Berg, A. J. van Gool, J. de Wit, G. Weeda, H. Morreau, R. B. Beems, C. F. van Kreijl, F. R. de Gruijl, D. Bootsma, and J. H. J. Hoeijmakers. 1997. Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition. Cell 89: 425–435.
   PubMed Web of Science ®Google Scholar
• van der Spek, P. J., A. Eker, S. Rademakers, C. Visser, K. Sugasawa, C. Masutani, F. Hanaoka, D. Bootsma, and J. H. J. Hoeijmakers. 1996. XPC and human homologs of RAD23: intracellular localization and relationship to other nucleotide excision repair complexes. Nucleic Acids Res. 24: 2551–2559.
   PubMedGoogle Scholar
• van der Spek, P. J., C. E. Visser, F. Hanaoka, B. Smit, A. Hagemeijer, D. Bootsma, and J. H. J. Hoeijmakers. 1996. Cloning, comparative mapping, and RNA expression of the mouse homologues of the Saccharomyces cerevisiae nucleotide excision repair gene RAD23. Genomics 31: 20–27.
   PubMedGoogle Scholar
• van Hoffen, A., J. Venema, R. Meschini, A. A. van Zeeland, and L. H. Mullenders. 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.
   PubMedGoogle Scholar
• Venema, J., A. van Hoffen, V. Karcagi, A. T. Natarajan, A. A. van Zeeland, and L. H. Mullenders. 1991. Xeroderma pigmentosum complementation group C cells remove pyrimidine dimers selectively from the transcribed strand of active genes. Mol. Cell. Biol. 11: 4128–4134.
   PubMed Web of Science ®Google Scholar
• Venema, J., A. van Hoffen, A. T. Natarajan, A. A. van Zeeland, and L. H. Mullenders. 1990. The residual repair capacity of xeroderma pigmentosum complementation group C fibroblasts is highly specific for transcriptionally active DNA. Nucleic Acids Res. 18: 443–448.
   PubMedGoogle Scholar
• Verhage, R. A., A. M. Zeeman, M. Lombaerts, P. van de Putte, and J. Brouwer. 1996. Analysis of gene- and strand-specific repair in the moderately UV-sensitive Saccharomyces cerevisiae rad23 mutant. Mutat. Res. 362: 155–165.
   PubMedGoogle Scholar
• Vermeulen, W., R. J. Scott, S. Rodgers, H. J. Muller, J. Cole, C. F. Arlett, W. J. Kleijer, D. Bootsma, J. H. J. Hoeijmakers, and G. Weeda. 1994. Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3. Am. J. Hum. Genet. 54: 191–200.
   PubMedGoogle Scholar
• Watkins, J. F., P. Sung, L. Prakash, and S. Prakash. 1993. The Saccharomyces cerevisiae DNA repair gene RAD23 encodes a nuclear protein containing a ubiquitin-like domain required for biological function. Mol. Cell. Biol. 13: 7757–7765.
   PubMed Web of Science ®Google Scholar
• Wood, R. D. 1996. DNA repair in eukaryotes. Annu. Rev. Biochem. 65: 135–167.
   PubMed Web of Science ®Google Scholar
• Yokoi, M., C. Masutani, T. Maekawa, K. Sugasawa, Y. Ohkuma, and F. Hanaoka. 2000. The xeroderma pigmentosum group C protein complex XPC-HR23B plays an important role in the recruitment of transcription factor IIH to damaged DNA. J. Biol. Chem. 275: 9870–9875.
   PubMed Web of Science ®Google Scholar