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Volumn 64, Issue 7-8, 2007, Pages 796-802

The molecular role of the Rothmund-Thomson-, RAPADILINO- and Baller-Gerold-gene product, RECQL4: Recent progress

Author keywords

Baller Gerold syndrome; Cancer; Genome stability; RAPADILINO syndrome; RecQ helicases; RECQL4; Rothmund Thomson syndrome

Indexed keywords

DNA; RECQ HELICASE;

EID: 34247102690     PISSN: 1420682X     EISSN: 15691632     Source Type: Journal    
DOI: 10.1007/s00018-007-6468-5     Document Type: Short Survey
Times cited : (41)

References (40)
  • 1
    • 0037364415 scopus 로고    scopus 로고
    • RecQ helicases: Caretakers of the genome
    • Hickson, I. D. (2003) RecQ helicases: caretakers of the genome. Nat. Rev. Cancer 3, 169-178.
    • (2003) Nat. Rev. Cancer , vol.3 , pp. 169-178
    • Hickson, I.D.1
  • 7
    • 0000584464 scopus 로고
    • Ueber Cataracten in Verbindung mit einer eigenthumlichen
    • Rothmund, A. (1868) Ueber Cataracten in Verbindung mit einer eigenthumlichen Hautdegeneration. Arch. Klin. Exp. Opthal. 4, 159-182.
    • (1868) Hautdegeneration. Arch. Klin. Exp. Opthal , vol.4 , pp. 159-182
    • Rothmund, A.1
  • 8
    • 84980087875 scopus 로고
    • Poikiloderma congenitale
    • Thomson, M. S. (1936) Poikiloderma congenitale. Br. J. Dermatol. 48, 221-234.
    • (1936) Br. J. Dermatol , vol.48 , pp. 221-234
    • Thomson, M.S.1
  • 9
    • 0026768449 scopus 로고
    • Rothmund-Thomson syndrome: Review of the world literature
    • Vennos, E. M., Collins, M., and James, W. D. (1992) Rothmund-Thomson syndrome: review of the world literature. J. Am. Acad. Dermatol. 27, 750-762.
    • (1992) J. Am. Acad. Dermatol , vol.27 , pp. 750-762
    • Vennos, E.M.1    Collins, M.2    James, W.D.3
  • 11
    • 0032736140 scopus 로고    scopus 로고
    • Rothmund-Thomson syndrome responsible gene, RECQL4: Genomic structure and products
    • Kitao, S., Lindor, N. M., Shiratori, M., Furuichi, Y., and Shimamoto, A. (1999) Rothmund-Thomson syndrome responsible gene, RECQL4: genomic structure and products. Genomics 61, 268-276.
    • (1999) Genomics , vol.61 , pp. 268-276
    • Kitao, S.1    Lindor, N.M.2    Shiratori, M.3    Furuichi, Y.4    Shimamoto, A.5
  • 12
    • 0034737004 scopus 로고    scopus 로고
    • Rothmund-Thomson syndrome due to RECQ4 helicase mutations: Report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome
    • Lindor, N. M., Furuichi, Y., Kitao, S., Shimamoto, A., Arndt, C., and Jalal, S. (2000) Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. Am. J. Med. Genet. 90, 223-228.
    • (2000) Am. J. Med. Genet , vol.90 , pp. 223-228
    • Lindor, N.M.1    Furuichi, Y.2    Kitao, S.3    Shimamoto, A.4    Arndt, C.5    Jalal, S.6
  • 14
    • 0028896957 scopus 로고
    • Rothmund-Thomson syndrome
    • Vennos, E. M., and James, W. D. (1995) Rothmund-Thomson syndrome. Dermatol. Clin. 13, 143-150.
    • (1995) Dermatol. Clin , vol.13 , pp. 143-150
    • Vennos, E.M.1    James, W.D.2
  • 15
    • 33646399211 scopus 로고    scopus 로고
    • RECQL4-deficient cells are hypersensitive to oxidative stress/damage: Insights for osteosarcoma prevalence and heterogeneity in Rothmund-Thomson syndrome
    • Werner, S. R., Prahalad, A. K., Yang, J., and Hock, J. M. (2006) RECQL4-deficient cells are hypersensitive to oxidative stress/damage: insights for osteosarcoma prevalence and heterogeneity in Rothmund-Thomson syndrome. Biochem. Biophys. Res. Commun. 345, 403-409.
    • (2006) Biochem. Biophys. Res. Commun , vol.345 , pp. 403-409
    • Werner, S.R.1    Prahalad, A.K.2    Yang, J.3    Hock, J.M.4
  • 17
    • 34247118701 scopus 로고    scopus 로고
    • Baller, F. (1950) Radiosaplasie und Inzucht. Z. Menschl. Vererb. Konstitutionsl. 29, 782-790.
    • Baller, F. (1950) Radiosaplasie und Inzucht. Z. Menschl. Vererb. Konstitutionsl. 29, 782-790.
  • 18
    • 0036233108 scopus 로고    scopus 로고
    • Preparation of the gene targeted knockout mice for human premature aging diseases, Werner syndrome, and Rothmund-Thomson syndrome caused by the mutation of DNA helicases
    • Ichikawa, K., Noda, T., and Furuichi, Y. (2002) Preparation of the gene targeted knockout mice for human premature aging diseases, Werner syndrome, and Rothmund-Thomson syndrome caused by the mutation of DNA helicases. Nippon Yakurigaku Zasshi 119, 219-226.
    • (2002) Nippon Yakurigaku Zasshi , vol.119 , pp. 219-226
    • Ichikawa, K.1    Noda, T.2    Furuichi, Y.3
  • 20
    • 15544389502 scopus 로고    scopus 로고
    • Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in amouse model of type II Rothmund-Thomson syndrome
    • Mann, M. B., Hodges, C. A., Barnes, E., Vogel, H., Hassold, T. J., and Luo, G. (2005) Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in amouse model of type II Rothmund-Thomson syndrome. Hum. Mol. Genet. 14, 813-825.
    • (2005) Hum. Mol. Genet , vol.14 , pp. 813-825
    • Mann, M.B.1    Hodges, C.A.2    Barnes, E.3    Vogel, H.4    Hassold, T.J.5    Luo, G.6
  • 21
    • 0033616679 scopus 로고    scopus 로고
    • DNA replication and checkpoint protein 1, functions with DPB11 to control DNA replication and the S-phase checkpoint in Saccaromyces cerevisiae
    • Wang, H., and Elledge, S. J. (1999) DNA replication and checkpoint protein 1, functions with DPB11 to control DNA replication and the S-phase checkpoint in Saccaromyces cerevisiae. Proc. Natl. Acad. Sci. USA 96, 3824-3829.
    • (1999) Proc. Natl. Acad. Sci. USA , vol.96 , pp. 3824-3829
    • Wang, H.1    Elledge, S.J.2
  • 22
    • 0037034048 scopus 로고    scopus 로고
    • S-Cdk-dependent phosphorylation of Sld2 essential for chromosomal DNA replication in budding yeast
    • Matsumoto, H., Muramatsu, S., Kamimura, Y., and Araki, H. (2002) S-Cdk-dependent phosphorylation of Sld2 essential for chromosomal DNA replication in budding yeast. Nature 415, 651-655.
    • (2002) Nature , vol.415 , pp. 651-655
    • Matsumoto, H.1    Muramatsu, S.2    Kamimura, Y.3    Araki, H.4
  • 23
    • 0037006806 scopus 로고    scopus 로고
    • CDK phosphorylation of Drc1 regulates DNA replication in fission yeast
    • Noguchi, E., Shanahan, P., Noguchi, C., and Russell, P. (2002) CDK phosphorylation of Drc1 regulates DNA replication in fission yeast. Curr. Biol. 12, 599-605.
    • (2002) Curr. Biol , vol.12 , pp. 599-605
    • Noguchi, E.1    Shanahan, P.2    Noguchi, C.3    Russell, P.4
  • 24
    • 20444380748 scopus 로고    scopus 로고
    • Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome
    • Sangrithi, M. N., Bernal, J.A., Madine, M., Philpott, A., Lee, J., Dunphy, W. G., and Venkitaraman, A. R. (2005) Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome. Cell 121, 887-898.
    • (2005) Cell , vol.121 , pp. 887-898
    • Sangrithi, M.N.1    Bernal, J.A.2    Madine, M.3    Philpott, A.4    Lee, J.5    Dunphy, W.G.6    Venkitaraman, A.R.7
  • 25
    • 33745471225 scopus 로고    scopus 로고
    • The N-terminal noncatalytic region of Xenopus RecQ4 is required for chromatin binding of DNA polymerase in the initiation of DNA replication
    • Matsuno, K., Kumano, M., Kubota, Y., Hashimoto, Y.,and Takisawa, H. (2006) The N-terminal noncatalytic region of Xenopus RecQ4 is required for chromatin binding of DNA polymerase in the initiation of DNA replication. Mol. Cell. Biol. 26, 4843-4852.
    • (2006) Mol. Cell. Biol , vol.26 , pp. 4843-4852
    • Matsuno, K.1    Kumano, M.2    Kubota, Y.3    Hashimoto, Y.4    Takisawa, H.5
  • 26
    • 19544366597 scopus 로고    scopus 로고
    • RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2of the N-end rule pathway
    • Yin, J., Tae Kwon, Y., Varshavsky, A., and Wang, W. (2004) RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2of the N-end rule pathway. Hum. Mol. Genet. 13, 2421-2430.
    • (2004) Hum. Mol. Genet , vol.13 , pp. 2421-2430
    • Yin, J.1    Tae Kwon, Y.2    Varshavsky, A.3    Wang, W.4
  • 28
    • 27144460601 scopus 로고    scopus 로고
    • The human Rothmund-Thomson syndrome gene product, RECQL4, localizes to distinct nuclear foci that coincide with proteins involved in the maintenance of genome stability
    • Petkovic, M., Dietschy, T., Freire, R., Jiao, R., and Stagljar, I. (2005) The human Rothmund-Thomson syndrome gene product, RECQL4, localizes to distinct nuclear foci that coincide with proteins involved in the maintenance of genome stability. J. Cell Sci. 118, 4261-4269.
    • (2005) J. Cell Sci , vol.118 , pp. 4261-4269
    • Petkovic, M.1    Dietschy, T.2    Freire, R.3    Jiao, R.4    Stagljar, I.5
  • 29
    • 0033514993 scopus 로고    scopus 로고
    • Nuclear foci of mammalian recombination proteins are located at single-stranded DNA regions formed after DNA damage
    • Raderschall, E., Golub, E.I., and Haaf, T. (1999) Nuclear foci of mammalian recombination proteins are located at single-stranded DNA regions formed after DNA damage. Proc. Natl. Acad. Sci. USA 96, 1921-1926.
    • (1999) Proc. Natl. Acad. Sci. USA , vol.96 , pp. 1921-1926
    • Raderschall, E.1    Golub, E.I.2    Haaf, T.3
  • 30
    • 0037900888 scopus 로고    scopus 로고
    • Xenopus Cut5 is essential for a CDK-dependent process in the initiation of DNA replication
    • Hashimoto, Y., and Takisawa, H. (2003) Xenopus Cut5 is essential for a CDK-dependent process in the initiation of DNA replication. EMBO J. 10, 2526-2535.
    • (2003) EMBO J , vol.10 , pp. 2526-2535
    • Hashimoto, Y.1    Takisawa, H.2
  • 31
    • 0037175392 scopus 로고    scopus 로고
    • The Xenopus Xmus101 protein is required for the recruitment of Cdc45 to origins of DNA replication
    • Van Hatten, R. A., Tutter, A. V., Holway, A. H., Khederian, A. M., Walter, J. C., and Michael, W. M. (2002) The Xenopus Xmus101 protein is required for the recruitment of Cdc45 to origins of DNA replication. J. Cell Biol. 159, 541-547.
    • (2002) J. Cell Biol , vol.159 , pp. 541-547
    • Van Hatten, R.A.1    Tutter, A.V.2    Holway, A.H.3    Khederian, A.M.4    Walter, J.C.5    Michael, W.M.6
  • 32
    • 0031658237 scopus 로고    scopus 로고
    • Sld2, which interacts with Dpb11 in Saccharomyces cerevisiae, is required for chromosomal DNA replication
    • Kamimura, Y., Masumoto H., Sugino A., and Araki H. (1998) Sld2, which interacts with Dpb11 in Saccharomyces cerevisiae, is required for chromosomal DNA replication. Mol. Cell. Biol. 18, 6102-6109.
    • (1998) Mol. Cell. Biol , vol.18 , pp. 6102-6109
    • Kamimura, Y.1    Masumoto, H.2    Sugino, A.3    Araki, H.4
  • 33
    • 33748606377 scopus 로고    scopus 로고
    • The Rothmund-Thomson gene product RECQL4 localizes to the nucleolus in response to oxidative stress
    • Woo, L. L., Futami, K., Shimamoto, A., Furuichi, Y., and Frank, K.M. (2006) The Rothmund-Thomson gene product RECQL4 localizes to the nucleolus in response to oxidative stress. Exp. Cell Res. 312, 3443-3457.
    • (2006) Exp. Cell Res , vol.312 , pp. 3443-3457
    • Woo, L.L.1    Futami, K.2    Shimamoto, A.3    Furuichi, Y.4    Frank, K.M.5
  • 34
    • 24744447821 scopus 로고    scopus 로고
    • The role of poly(ADP-ribose) in the DNA damage signaling network
    • Malanga, M. and Althaus, F. R. (2005). The role of poly(ADP-ribose) in the DNA damage signaling network. Biochem. Cell Biol. 83, 354-364.
    • (2005) Biochem. Cell Biol , vol.83 , pp. 354-364
    • Malanga, M.1    Althaus, F.R.2
  • 35
    • 0041386129 scopus 로고    scopus 로고
    • Poly(ADP-ribose) polymerase in base excision repair: Always engaged, but not essential for DNA damage processing
    • Allinson, S. L., Dianova, I. I., and Dianov, G. L. (2003) Poly(ADP-ribose) polymerase in base excision repair: always engaged, but not essential for DNA damage processing. Acta Biochim. Pol. 50, 169-179.
    • (2003) Acta Biochim. Pol , vol.50 , pp. 169-179
    • Allinson, S.L.1    Dianova, I.I.2    Dianov, G.L.3
  • 36
    • 0032231606 scopus 로고    scopus 로고
    • Structure, organization, and dynamics of promyelocytic leukemia protein nuclear bodies
    • Hodges, M., Tissot, C., Howe, K., Grimwade, D., and Freemont, P. S. (1998) Structure, organization, and dynamics of promyelocytic leukemia protein nuclear bodies. Am. J. Hum. Genet. 63, 297-304.
    • (1998) Am. J. Hum. Genet , vol.63 , pp. 297-304
    • Hodges, M.1    Tissot, C.2    Howe, K.3    Grimwade, D.4    Freemont, P.S.5
  • 37
    • 0032844787 scopus 로고    scopus 로고
    • Rad51/RecA protein families and the associated proteins in eukaryotes
    • Shinohara, A., and Ogawa, T. (1999) Rad51/RecA protein families and the associated proteins in eukaryotes. Mutat. Res. 435, 13-21.
    • (1999) Mutat. Res , vol.435 , pp. 13-21
    • Shinohara, A.1    Ogawa, T.2
  • 38
    • 30344477373 scopus 로고    scopus 로고
    • Biochemical characterization of the RECQ4 protein mutated in Rothmund-Thomson syndrome
    • Macris, M. A., Bussen, W., Shimamoto, A., and Sung, P. (2006) Biochemical characterization of the RECQ4 protein mutated in Rothmund-Thomson syndrome. DNA Repair 5, 172-180.
    • (2006) DNA Repair , vol.5 , pp. 172-180
    • Macris, M.A.1    Bussen, W.2    Shimamoto, A.3    Sung, P.4
  • 39
    • 30344442461 scopus 로고    scopus 로고
    • Rothmund-Thomson syndrome and RECQL4 defect: Splitting and lumping
    • Larizza, L., Magnani, I., and Roversi, G. (2006) Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping. Cancer Lett. 232, 107-120.
    • (2006) Cancer Lett , vol.232 , pp. 107-120
    • Larizza, L.1    Magnani, I.2    Roversi, G.3
  • 40
    • 33748744378 scopus 로고    scopus 로고
    • Mechanisms of RecQ helicases in pathways of DNA metabolism and maintenance of genomic stability
    • Sharma, S., Doherty, K. M., and Brosh, R. M., Jr (2006) Mechanisms of RecQ helicases in pathways of DNA metabolism and maintenance of genomic stability. Biochem. J. 398, 319-337.
    • (2006) Biochem. J , vol.398 , pp. 319-337
    • Sharma, S.1    Doherty, K.M.2    Brosh Jr, R.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.