cockayne syndrome

Summary

Summary: A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.

Top Publications

  1. pmc Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia
    Kazuya Kashiyama
    Department of Plastic and Reconstructive Surgery, Graduate School of Biomedical Sciences, Nagasaki University, 1 7 1 Sakamoto, Nagasaki 852 8501, Japan
    Am J Hum Genet 92:807-19. 2013
  2. ncbi Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
    Wim J Kleijer
    Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands
    DNA Repair (Amst) 7:744-50. 2008
  3. pmc Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome
    Katsuyoshi Horibata
    Laboratories of Organismal Biosystems, Graduate School of Frontier Biosciences, Osaka University, and Core Research for Evolutional Science and Technology, Japan Science and Technology Agency, 1 3 Yamadaoka, Suita, Osaka 565 0871, Japan
    Proc Natl Acad Sci U S A 101:15410-5. 2004
  4. pmc ATP-dependent chromatin remodeling by the Cockayne syndrome B DNA repair-transcription-coupling factor
    E Citterio
    Medical Genetic Center, Department of Cell Biology and Genetics, Center for Biomedical Genetics, Erasmus University Rotterdam, 3000 DR Rotterdam, The Netherlands
    Mol Cell Biol 20:7643-53. 2000
  5. ncbi Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome
    V Laugel
    Laboratory of Medical Genetics, University of Strasbourg, Strasbourg, France
    Hum Mutat 31:113-26. 2010
  6. ncbi An altered redox balance mediates the hypersensitivity of Cockayne syndrome primary fibroblasts to oxidative stress
    Barbara Pascucci
    Istituto di Cristallografia, Consiglio Nazionale delle Ricerche, Via Salaria, km 29, 300, 00016 Monterotondo Stazione, Rome, Italy
    Aging Cell 11:520-9. 2012
  7. pmc The role of Cockayne Syndrome group B (CSB) protein in base excision repair and aging
    Tinna Stevnsner
    Danish Centre for Molecular Gerontology, Department of Molecular Biology, University of Aarhus, C F Møllers Alle, Aarhus C, Denmark
    Mech Ageing Dev 129:441-8. 2008
  8. pmc A ubiquitin-binding domain in Cockayne syndrome B required for transcription-coupled nucleotide excision repair
    Roy Anindya
    Clare Hall Laboratories, Cancer Research UK London Research Institute, Blanche Lane, South Mimms EN6 3LD, UK
    Mol Cell 38:637-48. 2010
  9. ncbi Cockayne syndrome group B (CSB) protein: at the crossroads of transcriptional networks
    Renier Velez-Cruz
    Department of Functional Genomics and Cancer, Institut de Genetique et de Biologie Moleculaire et Cellulaire IGBMC, CNRS INSERM Université de Strasbourg, BP 163, 67404 Illkirch Cedex, C U Strasbourg, France
    Mech Ageing Dev 134:234-42. 2013
  10. pmc Sirt1 suppresses RNA synthesis after UV irradiation in combined xeroderma pigmentosum group D/Cockayne syndrome (XP-D/CS) cells
    Renier Velez-Cruz
    Department of Functional Genomics and Cancer, Institut de Genetique et de Biologie Moleculaire et Cellulaire, Centre National de la Recherche Scientifique Institut National de la Santé et de la Recherche Médicale, Universite de Strasbourg, 67404 Illkirch, France
    Proc Natl Acad Sci U S A 110:E212-20. 2013

Research Grants

  1. Mechanisms for Transcription-Coupled Repair in Human Cells
    Priscilla K Cooper; Fiscal Year: 2010
  2. RNA Polymerase Transcription Past DNA Adducts
    David A Scicchitano; Fiscal Year: 2013
  3. Oxidative DNA damage processing;role in human pathology and aging
    PHILIP COURTLAND HANAWALT; Fiscal Year: 2013
  4. R15 AREA: Replication in the Presence of Oxidative DNA damage
    Justin Courcelle; Fiscal Year: 2012
  5. Aging and the unstable epigenome
    Gerd P Pfeifer; Fiscal Year: 2013
  6. Molecular Mechanisms of Nitroarene Toxicity
    Carlos R de los Santos; Fiscal Year: 2013
  7. Methods for generalized ontology terms enrichment analysis
    Nigam Shah; Fiscal Year: 2013
  8. Tumorigenic Role of the CUL4A Ubiquitin Ligase
    Pengbo Zhou; Fiscal Year: 2013
  9. Cockayne syndrome: role of the innate immune response in neurodegeneration
    Alan M Weiner; Fiscal Year: 2013
  10. FUNCTIONAL ANALYSIS OF RAD23 PROTEIN
    Kiran Madura; Fiscal Year: 2013

Detail Information

Publications258 found, 100 shown here

  1. pmc Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia
    Kazuya Kashiyama
    Department of Plastic and Reconstructive Surgery, Graduate School of Biomedical Sciences, Nagasaki University, 1 7 1 Sakamoto, Nagasaki 852 8501, Japan
    Am J Hum Genet 92:807-19. 2013
    b>Cockayne syndrome (CS) is a genetic disorder characterized by developmental abnormalities and photodermatosis resulting from the lack of transcription-coupled nucleotide excision repair, which is responsible for the removal of ..
  2. ncbi Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
    Wim J Kleijer
    Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands
    DNA Repair (Amst) 7:744-50. 2008
    ..in western Europe from the early seventies for xeroderma pigmentosum (XP) and from the mid-eighties for Cockayne syndrome (CS) and trichothiodystrophy (TTD)...
  3. pmc Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome
    Katsuyoshi Horibata
    Laboratories of Organismal Biosystems, Graduate School of Frontier Biosciences, Osaka University, and Core Research for Evolutional Science and Technology, Japan Science and Technology Agency, 1 3 Yamadaoka, Suita, Osaka 565 0871, Japan
    Proc Natl Acad Sci U S A 101:15410-5. 2004
    ..not belong to any complementation groups of known photosensitive disorders such as xeroderma pigmentosum and Cockayne syndrome (CS)...
  4. pmc ATP-dependent chromatin remodeling by the Cockayne syndrome B DNA repair-transcription-coupling factor
    E Citterio
    Medical Genetic Center, Department of Cell Biology and Genetics, Center for Biomedical Genetics, Erasmus University Rotterdam, 3000 DR Rotterdam, The Netherlands
    Mol Cell Biol 20:7643-53. 2000
    The Cockayne syndrome B protein (CSB) is required for coupling DNA excision repair to transcription in a process known as transcription-coupled repair (TCR)...
  5. ncbi Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome
    V Laugel
    Laboratory of Medical Genetics, University of Strasbourg, Strasbourg, France
    Hum Mutat 31:113-26. 2010
    b>Cockayne syndrome is an autosomal recessive multisystem disorder characterized principally by neurological and sensory impairment, cachectic dwarfism, and photosensitivity...
  6. ncbi An altered redox balance mediates the hypersensitivity of Cockayne syndrome primary fibroblasts to oxidative stress
    Barbara Pascucci
    Istituto di Cristallografia, Consiglio Nazionale delle Ricerche, Via Salaria, km 29, 300, 00016 Monterotondo Stazione, Rome, Italy
    Aging Cell 11:520-9. 2012
    b>Cockayne syndrome (CS) is a rare hereditary multisystem disease characterized by neurological and development impairment, and premature aging...
  7. pmc The role of Cockayne Syndrome group B (CSB) protein in base excision repair and aging
    Tinna Stevnsner
    Danish Centre for Molecular Gerontology, Department of Molecular Biology, University of Aarhus, C F Møllers Alle, Aarhus C, Denmark
    Mech Ageing Dev 129:441-8. 2008
    b>Cockayne Syndrome (CS) is a rare human genetic disorder characterized by progressive multisystem degeneration and segmental premature aging...
  8. pmc A ubiquitin-binding domain in Cockayne syndrome B required for transcription-coupled nucleotide excision repair
    Roy Anindya
    Clare Hall Laboratories, Cancer Research UK London Research Institute, Blanche Lane, South Mimms EN6 3LD, UK
    Mol Cell 38:637-48. 2010
    ..Defective TCR in humans is associated with Cockayne syndrome (CS), typically caused by defects in either CSA or CSB...
  9. ncbi Cockayne syndrome group B (CSB) protein: at the crossroads of transcriptional networks
    Renier Velez-Cruz
    Department of Functional Genomics and Cancer, Institut de Genetique et de Biologie Moleculaire et Cellulaire IGBMC, CNRS INSERM Université de Strasbourg, BP 163, 67404 Illkirch Cedex, C U Strasbourg, France
    Mech Ageing Dev 134:234-42. 2013
    b>Cockayne syndrome (CS) is a rare genetic disorder characterized by a variety of growth and developmental defects, photosensitivity, cachectic dwarfism, hearing loss, skeletal abnormalities, progressive neurological degeneration, and ..
  10. pmc Sirt1 suppresses RNA synthesis after UV irradiation in combined xeroderma pigmentosum group D/Cockayne syndrome (XP-D/CS) cells
    Renier Velez-Cruz
    Department of Functional Genomics and Cancer, Institut de Genetique et de Biologie Moleculaire et Cellulaire, Centre National de la Recherche Scientifique Institut National de la Santé et de la Recherche Médicale, Universite de Strasbourg, 67404 Illkirch, France
    Proc Natl Acad Sci U S A 110:E212-20. 2013
    ..mutations in the XPD subunit of transcription factor IIH result in combined xeroderma pigmentosum (XP)/Cockayne syndrome (CS), a severe DNA repair disorder characterized at the cellular level by a transcriptional arrest following ..
  11. pmc Reciprocally regulated chromatin association of Cockayne syndrome protein B and p53 protein
    Robert J Lake
    Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104 6145, USA
    J Biol Chem 286:34951-8. 2011
    The Cockayne syndrome complementation group B (CSB) protein is an ATP-dependent chromatin remodeler with an essential function in transcription-coupled DNA repair, and mutations in the CSB gene are associated with Cockayne syndrome...
  12. pmc Nucleic acid binding activity of human Cockayne syndrome B protein and identification of Ca(2+) as a novel metal cofactor
    Brian R Berquist
    Laboratory of Molecular Gerontology, National Institute on Aging, National Institutes of Health, Baltimore, MD 21224, USA
    J Mol Biol 391:820-32. 2009
    The Cockayne syndrome group B protein (CSB) is a member of the SWI/SNF2 subgroup of Superfamily 2 ATPases/nucleic acid translocases/helicases and is defective in the autosomal recessive segmental progeroid disorder Cockayne syndrome...
  13. pmc Cockayne syndrome group B protein enhances elongation by RNA polymerase II
    C P Selby
    Department of Biochemistry and Biophysics, University of North Carolina School of Medicine, Chapel Hill, NC 27599 7260, USA
    Proc Natl Acad Sci U S A 94:11205-9. 1997
    b>Cockayne syndrome (CS) is characterized by impaired physical and mental development. Two complementation groups, CSA and CSB, have been identified. Here we report that the CSB gene product enhances elongation by RNA polymerase II...
  14. ncbi A comprehensive description of the severity groups in Cockayne syndrome
    Valerie Natale
    Obura Company, San Jose, California, USA
    Am J Med Genet A 155:1081-95. 2011
    b>Cockayne syndrome (CS) is a rare degenerative disorder with a common set of symptoms but a very wide variation in phenotype...
  15. ncbi Recognition of RNA polymerase II and transcription bubbles by XPG, CSB, and TFIIH: insights for transcription-coupled repair and Cockayne Syndrome
    Altaf H Sarker
    Life Sciences Division, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Mail Stop 74R157, Berkeley, California 94720, USA
    Mol Cell 20:187-98. 2005
    Loss of a nonenzymatic function of XPG results in defective transcription-coupled repair (TCR), Cockayne syndrome (CS), and early death, but the molecular basis for these phenotypes is unknown...
  16. ncbi Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair
    Xue Zhang
    Graduate School of Frontier Biosciences, Osaka University, Osaka, Japan
    Nat Genet 44:593-7. 2012
    ..b>Cockayne syndrome is a related disorder with defective TCR and consists of two complementation groups, Cockayne syndrome (CS)-..
  17. ncbi Accumulation of mitochondrial DNA damage and bioenergetic dysfunction in CSB defective cells
    Pia Ø Osenbroch
    Institute of Clinical Biochemistry, Faculty Division Rikshospitalet, University of Oslo, Norway
    FEBS J 276:2811-21. 2009
    b>Cockayne syndrome (CS) is a complex, progressive disease that involves neurological and developmental impairment and premature aging. The majority of CS patients have mutations in the CSB gene...
  18. pmc Increased apoptosis, p53 up-regulation, and cerebellar neuronal degeneration in repair-deficient Cockayne syndrome mice
    R R Laposa
    Department of Dermatology and Cancer Center, University of California, San Francisco, CA 94143 0808, USA
    Proc Natl Acad Sci U S A 104:1389-94. 2007
    b>Cockayne syndrome (CS) is a rare recessive childhood-onset neurodegenerative disease, characterized by a deficiency in the DNA repair pathway of transcription-coupled nucleotide excision repair...
  19. ncbi Primary fibroblasts of Cockayne syndrome patients are defective in cellular repair of 8-hydroxyguanine and 8-hydroxyadenine resulting from oxidative stress
    Jingsheng Tuo
    Laboratory of Molecular Gerontology, National Institute on Aging, National Institutes of Health, Baltimore, MD 21224, USA
    FASEB J 17:668-74. 2003
    b>Cockayne syndrome (CS) is a genetic human disease with clinical symptoms that include neurodegeneration and premature aging. The disease is caused by the disruption of CSA, CSB, or some types of xeroderma pigmentosum genes...
  20. pmc An abundant evolutionarily conserved CSB-PiggyBac fusion protein expressed in Cockayne syndrome
    John C Newman
    Department of Biochemistry, School of Medicine, University of Washington, Seattle, Washington, United States of America
    PLoS Genet 4:e1000031. 2008
    b>Cockayne syndrome (CS) is a devastating progeria most often caused by mutations in the CSB gene encoding a SWI/SNF family chromatin remodeling protein...
  21. pmc Recruitment of the putative transcription-repair coupling factor CSB/ERCC6 to RNA polymerase II elongation complexes
    D Tantin
    Molecular Biology Institute, UCLA School of Medicine, Los Angeles, California 90095 1737, USA
    Mol Cell Biol 17:6803-14. 1997
    ..CSB is a DNA-activated ATPase, and hydrolysis of the ATP beta-gamma phosphoanhydride bond is required for the formation of a stable Pol II-CSB-DNA-RNA complex. Unlike CSB, CSA does not directly bind Pol II...
  22. pmc An Xpb mouse model for combined xeroderma pigmentosum and cockayne syndrome reveals progeroid features upon further attenuation of DNA repair
    Jaan Olle Andressoo
    MGC Cancer Genomics Center, Department of Cell Biology and Genetics, Center for Biomedical Genetics, Erasmus Medical Center, Erasmus University, P O Box 1738, 3000 DR Rotterdam, The Netherlands
    Mol Cell Biol 29:1276-90. 2009
    ..NER) factor TFIIH display the combined cancer and developmental-progeroid disorder xeroderma pigmentosum/Cockayne syndrome (XPCS)...
  23. ncbi Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts
    Graciela Spivak
    Department of Biological Sciences, Stanford University, Stanford, CA 94305 5020, USA
    DNA Repair (Amst) 5:13-22. 2006
    ..No neurological or developmental abnormalities or predisposition to cancer have been reported. In contrast, Cockayne syndrome (CS) patients exhibit severe developmental and neurological defects, in addition to photosensitivity...
  24. pmc CSB protein is (a direct target of HIF-1 and) a critical mediator of the hypoxic response
    Silvia Filippi
    Laboratory of Molecular Cytogenetics and Mutagenesis, Department ABAC, University of Tuscia, Viterbo, Italy
    EMBO J 27:2545-56. 2008
    b>Cockayne syndrome (CS) is a rare genetic disease characterized by neurological problems, growth failure and premature ageing...
  25. ncbi Cell type-specific hypersensitivity to oxidative damage in CSB and XPA mice
    Harm de Waard
    MGC, Department of Cell Biology and Genetics, Erasmus MC, P O Box 1738, 3000 DR Rotterdam, The Netherlands
    DNA Repair (Amst) 2:13-25. 2003
    Mutations in the CSB gene cause Cockayne syndrome (CS), a rare inherited disorder, characterized by UV-sensitivity, severe neurodevelopmental and progeroid symptoms...
  26. ncbi Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome
    Kyu Seon Oh
    DNA Repair Section, Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892 4258, USA
    Hum Mutat 27:1092-103. 2006
    ..mild xeroderma pigmentosum (XP) symptoms not previously associated with XPB mutations and two have severe XP/Cockayne syndrome (CS) complex symptoms. All XP-B cells had reduced NER and post-ultraviolet (UV) cell viability...
  27. pmc DNA damage stabilizes interaction of CSB with the transcription elongation machinery
    Vincent van den Boom
    Department of Cell Biology and Genetics, Erasmus MC, P O Box 1738, 3000 DR Rotterdam, Netherlands
    J Cell Biol 166:27-36. 2004
    The Cockayne syndrome B (CSB) protein is essential for transcription-coupled DNA repair (TCR), which is dependent on RNA polymerase II elongation. TCR is required to quickly remove the cytotoxic transcription-blocking DNA lesions...
  28. ncbi Mitochondrial repair of 8-oxoguanine is deficient in Cockayne syndrome group B
    Tinna Stevnsner
    Danish Center for Molecular Gerontology, Department of Molecular Biology, University of Aarhus, DK 8000 Aarhus C, Denmark
    Oncogene 21:8675-82. 2002
    ..b>Cockayne syndrome (CS) is a segmental premature aging syndrome in humans that has two complementation groups, CSA and CSB...
  29. ncbi Activation of p53 or loss of the Cockayne syndrome group B repair protein causes metaphase fragility of human U1, U2, and 5S genes
    A Yu
    Department of Molecular Biophysics and Biochemistry, Yale University School of Medicine, New Haven, Connecticut 06510, USA
    Mol Cell 5:801-10. 2000
    ..We now show that loss of the Cockayne syndrome group B protein (CSB) or overexpression of the p53 carboxy-terminal domain induces fragility of the same ..
  30. ncbi Complementation of the oxidatively damaged DNA repair defect in Cockayne syndrome A and B cells by Escherichia coli formamidopyrimidine DNA glycosylase
    Monica Ropolo
    Experimental Oncology B Laboratory, Department of Translational Oncology, Istituto Nazionale Ricerca Cancro, Largo Rosanna Benzi n 10, 16132 Genova, Italy
    Free Radic Biol Med 42:1807-17. 2007
    ..8-oxo-7,8-dihydroguanine (8-oxoGua) is inefficient in cells belonging to the B complementation group of Cockayne syndrome (CS-B), a developmental and neurological disorder characterized by defective transcription-coupled repair...
  31. ncbi Lifespan extension by dietary intervention in a mouse model of Cockayne syndrome uncouples early postnatal development from segmental progeria
    Lear E Brace
    Department of Genetics and Complex Diseases, Harvard School of Public Health, 655 Huntington Ave, Boston, MA, 02115, USA
    Aging Cell 12:1144-7. 2013
    b>Cockayne syndrome (CS) is a rare autosomal recessive segmental progeria characterized by growth failure, lipodystrophy, neurological abnormalities, and photosensitivity, but without skin cancer predisposition...
  32. ncbi Neuroimaging in Cockayne syndrome
    M Koob
    Departments of Radiology II, Strasbourg Hautepierre University Hospital, 1 Avenue Moliere, Strasbourg Cedex, France
    AJNR Am J Neuroradiol 31:1623-30. 2010
    ..These combined neuroradiologic findings can help in the differential diagnosis of CS, distinguishing it from other leukoencephalopathies and/or cerebral calcifications in childhood...
  33. ncbi Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome
    Vincent Laugel
    Laboratory of Medical Genetics, Faculte de Medecine, Strasbourg, France
    Eur J Hum Genet 16:320-7. 2008
    b>Cockayne syndrome is an autosomal recessive neurodegenerative disorder characterized by a specific defect in the repair of UV-induced DNA lesions...
  34. pmc UV-induced association of the CSB remodeling protein with chromatin requires ATP-dependent relief of N-terminal autorepression
    Robert J Lake
    Epigenetics and Progenitor Cells Keystone Program, Fox Chase Cancer Center, Philadelphia, PA 19111, USA
    Mol Cell 37:235-46. 2010
    ..chromatin remodeler CSB is essential for transcription-coupled DNA repair, and mutations in CSB lead to Cockayne syndrome. Here, we examined the recruitment of CSB to chromatin after ultraviolet (UV) irradiation and uncovered a ..
  35. ncbi DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
    Alan R Lehmann
    Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton BN1 9RQ, UK
    Biochimie 85:1101-11. 2003
    Xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD) are genetic disorders with very different clinical features, but all associated with defects in nucleotide excision repair...
  36. pmc Cockayne Syndrome group B protein interacts with TRF2 and regulates telomere length and stability
    Nicole L Batenburg
    Department of Biology, McMaster University, 1280 Main St West Hamilton, ON, Canada L8S4K1
    Nucleic Acids Res 40:9661-74. 2012
    The majority of Cockayne syndrome (CS) patients carry a mutation in Cockayne Syndrome group B (CSB), a large nuclear protein implicated in DNA repair, transcription and chromatin remodeling...
  37. ncbi An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria
    Jaan Olle Andressoo
    Medical Genetics Center, Department of Cell Biology and Genetics, Center of Biomedical Genetics, Cancer Genomics Center, Erasmus Medical Center, Dr Molewaterplein 50, 3015 GE, Rotterdam, The Netherlands
    Cancer Cell 10:121-32. 2006
    ..elevated cancer incidence (xeroderma pigmentosum [XP]) or segmental progeria without cancer predisposition (Cockayne syndrome [CS] and trichothiodystrophy [TTD])...
  38. ncbi p53 modulation of TFIIH-associated nucleotide excision repair activity
    X W Wang
    Laboratory of Human Carcinogenesis, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892 4255, USA
    Nat Genet 10:188-95. 1995
    ..Moreover, repair of UV-induced dimers is slower in Li-Fraumeni syndrome cells (heterozygote p53 mutant) than in normal human cells. Our findings indicate that p53 may play a direct role in modulating nucleotide excision repair pathways...
  39. pmc Regulatory interplay of Cockayne syndrome B ATPase and stress-response gene ATF3 following genotoxic stress
    Ulrik Kristensen
    Department of Functional Genomics and Cancer Biology, Centre National de la Recherche Scientifique Institut National de la Santé et de la Recherche Médicale, Laboratory of Medical Genetics, University of Strasbourg, 67404 Illkirch Cedex, France
    Proc Natl Acad Sci U S A 110:E2261-70. 2013
    b>Cockayne syndrome type B ATPase (CSB) belongs to the SwItch/Sucrose nonfermentable family...
  40. pmc Blinded by the UV light: how the focus on transcription-coupled NER has distracted from understanding the mechanisms of Cockayne syndrome neurologic disease
    P J Brooks
    Laboratory of Neurogenetics, National Institute on Alcohol Abuse and Alcoholism, NIH, 5625 Fishers Lane, 3S 32, Bethesda, MD 20892, USA
    DNA Repair (Amst) 12:656-71. 2013
    b>Cockayne syndrome (CS) is a devastating neurodevelopmental disorder, with growth abnormalities, progeriod features, and sun sensitivity...
  41. ncbi Oxidative nucleotide damage and superoxide dismutase expression in the brains of xeroderma pigmentosum group A and Cockayne syndrome
    Masaharu Hayashi
    Department of Clinical Neuropathology, Tokyo Metropolitan Institute for Neuroscience, 2 6 Musashi dai, Fuchu shi, Tokyo 183 8526, Japan
    Brain Dev 27:34-8. 2005
    Xeroderma pigmentosum group A (XPA) and Cockayne syndrome (CS) are caused by a genetic defect of nucleotide excision repair mechanisms, showing cutaneous hypersensitivity to sunlight and progressive neurological disturbances...
  42. pmc The conserved Cockayne syndrome B-piggyBac fusion protein (CSB-PGBD3) affects DNA repair and induces both interferon-like and innate antiviral responses in CSB-null cells
    Arnold D Bailey
    Department of Biochemistry, School of Medicine, University of Washington, Seattle, WA 98195 7350, USA
    DNA Repair (Amst) 11:488-501. 2012
    b>Cockayne syndrome is a segmental progeria most often caused by mutations in the CSB gene encoding a SWI/SNF-like ATPase required for transcription-coupled DNA repair (TCR)...
  43. pmc Differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cells
    Rebecca R Selzer
    Laboratory of Molecular Gerontology, National Institute on Aging, National Institutes of Health, 5600 Nathan Shock Drive, Baltimore, MD 21224 6825, USA
    Nucleic Acids Res 30:782-93. 2002
    b>Cockayne syndrome (CS) is a rare inherited human genetic disorder characterized by UV sensitivity, developmental abnormalities and premature aging...
  44. pmc Repair of 8-oxoguanine in DNA is deficient in Cockayne syndrome group B cells
    G Dianov
    Laboratory of Molecular Genetics, National Institute on Aging, NIH, 5600 Nathan Shock Drive, Baltimore, MD 21224, USA
    Nucleic Acids Res 27:1365-8. 1999
    The incision of the 8-oxoguanine in DNA by normal and Cockayne Syndrome (CS) cell extracts has been investigated...
  45. ncbi A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy
    J E Cleaver
    UCSF Cancer Center and Department of Dermatology, University of California, San Francisco 94143 0808, USA
    Hum Mutat 14:9-22. 1999
    The human diseases xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy are caused by mutations in a set of interacting gene products, which carry out the process of nucleotide excision repair...
  46. pmc The ATPase domain but not the acidic region of Cockayne syndrome group B gene product is essential for DNA repair
    R M Brosh
    Laboratory of Molecular Genetics, National Institute on Aging, National Institutes of Health, Baltimore, Maryland 21224, USA
    Mol Biol Cell 10:3583-94. 1999
    b>Cockayne syndrome (CS) is a human genetic disorder characterized by UV sensitivity, developmental abnormalities, and premature aging...
  47. pmc Hot topics in DNA repair: the molecular basis for different disease states caused by mutations in TFIIH and XPG
    ORLANDO D SCHARER
    Department of Pharmacological Sciences, Stony Brook University, Stony Brook, NY 11974 3400, USA
    DNA Repair (Amst) 7:339-44. 2008
    ..in nucleotide excision repair (NER) are associated with three genetic disorders, xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD)...
  48. ncbi Impaired repair of ionizing radiation-induced DNA damage in Cockayne syndrome cells
    Patricia Cramers
    Department of Toxicogenetics, Leiden University Medical Center, Einthovenweg 20, 2300 RC Leiden, The Netherlands
    Radiat Res 175:432-43. 2011
    b>Cockayne syndrome (CS) cells are defective in transcription-coupled repair (TCR) and sensitive to oxidizing agents, including ionizing radiation...
  49. ncbi Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum
    S Colella
    Istituto di Genetica Biochimica ed Evoluzionistica CNR, Via Abbiategrasso, 207 27100 Pavia, Italy
    Hum Mol Genet 9:1171-5. 2000
    Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are two hereditary disorders in which photosensitivity is associated with distinct clinical and cellular phenotypes and results from genetically different defects...
  50. pmc Clinical implications of the basic defects in Cockayne syndrome and xeroderma pigmentosum and the DNA lesions responsible for cancer, neurodegeneration and aging
    J E Cleaver
    Department of Dermatology and UCSF Cancer Center, University of California San Francisco, CA 94143 0808, USA
    Mech Ageing Dev 129:492-7. 2008
    ..specific pathways of DNA damage relevant to clinical outcomes; if naturally occurring reactive oxygen species are pathological in human repair deficient disease, would anti-oxidants or anti-apoptotic agents be feasible therapeutic agent?..
  51. ncbi Truncated Cockayne syndrome B protein represses elongation by RNA polymerase I
    Anton Lebedev
    Department of Dermatology and Allergic Diseases, University of Ulm, Helmholtzstr 8 1, 89081 Ulm, Germany
    J Mol Biol 382:266-74. 2008
    Mutations in the Cockayne syndrome B (CSB) gene result in the human form of Cockayne syndrome. CSB protein has been shown to be a component of RNA polymerase I (Pol I) transcription...
  52. pmc XPG: its products and biological roles
    ORLANDO D SCHARER
    Department of Pharmacological Sciences and Chemistry, Stony Brook University, Stony Brook, NY 11974 3400, USA
    Adv Exp Med Biol 637:83-92. 2008
    ..of XP-G patient is much more severely affected, displaying combined symptoms of xeroderma pigmentosum and Cockayne syndrome, referred to as XP/CS complex...
  53. pmc Proteins of nucleotide and base excision repair pathways interact in mitochondria to protect from loss of subcutaneous fat, a hallmark of aging
    York Kamenisch
    Department of Dermatology, Eberhard Karls University, D 72076 Tuebingen, Germany
    J Exp Med 207:379-90. 2010
    ..may lead to tumors in xeroderma pigmentosum (XP) or to premature aging with loss of subcutaneous fat in Cockayne syndrome (CS)...
  54. ncbi Cockayne syndrome and xeroderma pigmentosum
    I Rapin
    Department of Neurology, Rose F Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, NY, USA
    Neurology 55:1442-9. 2000
    To review genetic variants of Cockayne syndrome (CS) and xeroderma pigmentosum (XP), autosomal recessive disorders of DNA repair that affect the nervous system, and to illustrate them by the first case of xeroderma pigmentosum-Cockayne ..
  55. ncbi DNA repair in mammalian cells: Transcription-coupled DNA repair: directing your effort where it's most needed
    S Tornaletti
    Department of Anatomy and Cell Biology, University of Florida, Gainesville, Florida 32610, USA
    Cell Mol Life Sci 66:1010-20. 2009
    ..This article will review the recent literature on the subject with emphasis on how lesions affect the elongation step of transcription and how the initial steps of TCR occur in human cells. (Part of a Multi-author Review)...
  56. ncbi Interactions involving the human RNA polymerase II transcription/nucleotide excision repair complex TFIIH, the nucleotide excision repair protein XPG, and Cockayne syndrome group B (CSB) protein
    N Iyer
    Department of Pathology, University of Texas Southwestern Medical Center, Dallas 75235, USA
    Biochemistry 35:2157-67. 1996
    ..interactions between TFIIH components, the human NER protein XPG, and the CSB protein which is implicated in Cockayne syndrome (CS). Our analyses demonstrate that the XPB, XPD, p44, and p62 proteins interact with each other...
  57. pmc A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage
    Tiziana Nardo
    Istituto di Genetica Molecolare, Consiglio Nazionale delle Ricerche, via Abbiategrasso 207, 27100 Pavia, Italy
    Proc Natl Acad Sci U S A 106:6209-14. 2009
    ..b>Cockayne syndrome (CS) is another genetic disorder with sun sensitivity and defective TC-NER, caused by mutations in the CSA ..
  58. ncbi Neuropathology of Cockayne syndrome: Evidence for impaired development, premature aging, and neurodegeneration
    Karen M Weidenheim
    Department of Pathology, Albert Einstein College of Medicine, Bronx, NY, United States
    Mech Ageing Dev 130:619-36. 2009
    ..growth and development failure, premature, accelerated, pathologic aging, and neurodegeneration characterize Cockayne syndrome (CS) and the cerebro-oculo-facial-skeletal and xeroderma pigmentosum/CS syndromes which overlap CS partially ..
  59. pmc Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome
    D L Mallery
    MRC Cell Mutation Unit, Sussex University, Falmer, Brighton BN1 9RR, United Kingdom
    Am J Hum Genet 62:77-85. 1998
    b>Cockayne syndrome is a multisystem sun-sensitive genetic disorder associated with a specific defect in the ability to perform transcription-coupled repair of active genes after UV irradiation...
  60. ncbi Isolation of XAB2 complex involved in pre-mRNA splicing, transcription, and transcription-coupled repair
    Isao Kuraoka
    Laboratories for Organismal Biosystems, Graduate School of Frontier Biosciences, Osaka University, Suita, Osaka 565 0871, Japan
    J Biol Chem 283:940-50. 2008
    ..Moreover, XAB2 has been shown to interact with Cockayne syndrome group A and B proteins (CSA and CSB) and RNA polymerase II, as well as XPA, and is involved in TCR and ..
  61. ncbi Requirement of yeast RAD2, a homolog of human XPG gene, for efficient RNA polymerase II transcription. implications for Cockayne syndrome
    Sung Keun Lee
    Sealy Center for Molecular Science, University of Texas Medical Branch, 6 104 Blocker Medical Research Building, 11th and Mechanic Streets, Galveston, TX 77555, USA
    Cell 109:823-34. 2002
    In addition to xeroderma pigmentosum, mutations in the human XPG gene cause early onset Cockayne syndrome (CS). Here, we provide evidence for the involvement of RAD2, the S...
  62. pmc Disruption of the Cockayne syndrome B gene impairs spontaneous tumorigenesis in cancer-predisposed Ink4a/ARF knockout mice
    Y Lu
    Department of Pathology, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    Mol Cell Biol 21:1810-8. 2001
    Cells isolated from individuals with Cockayne syndrome (CS) have a defect in transcription-coupled DNA repair, which rapidly corrects certain DNA lesions located on the transcribed strand of active genes...
  63. pmc Accumulation of (5'S)-8,5'-cyclo-2'-deoxyadenosine in organs of Cockayne syndrome complementation group B gene knockout mice
    Guldal Kirkali
    Chemical Science and Technology Laboratory, National Institute of Standards and Technology, Gaithersburg, MD 20899, USA
    DNA Repair (Amst) 8:274-8. 2009
    b>Cockayne syndrome (CS) is a human genetic disorder characterized by sensitivity to UV radiation, neurodegeneration, premature aging among other phenotypes...
  64. ncbi Cockayne syndrome: the expanding clinical and mutational spectrum
    Vincent Laugel
    Department of Pediatrics, Strasbourg Hautepierre University Hospital, Avenue Moliere, F 67098 Strasbourg, France
    Mech Ageing Dev 134:161-70. 2013
    b>Cockayne syndrome is a progressive multisystem disorder characterized by a specific cellular defect in transcription-coupled repair...
  65. ncbi Conceptual developments in the causes of Cockayne syndrome
    James E Cleaver
    Department of Dermatology, University of California San Francisco, 2340 Sutter Street, San Francisco, CA 94143, USA
    Mech Ageing Dev 134:284-90. 2013
    b>Cockayne syndrome is an autosomal recessive disease that covers a wide range of symptoms, from mild photosensitivity to severe neonatal lethal disorder...
  66. pmc Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship
    K H Kraemer
    DNA Repair Section, Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, Building 37 Room 4002 MSC 4258, Bethesda, MD 20892 4258, USA
    Neuroscience 145:1388-96. 2007
    Patients with the rare genetic disorders, xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and Cockayne syndrome (CS) have defects in DNA nucleotide excision repair (NER). The NER pathway involves at least 28 genes...
  67. pmc Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome
    B C Broughton
    MRC Cell Mutation Unit, University of Sussex, Falmer, Brighton, United Kingdom
    Am J Hum Genet 56:167-74. 1995
    Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are quite distinct genetic disorders that are associated with defects in excision repair of UV-induced DNA damage...
  68. ncbi Repair of oxidatively generated DNA damage in Cockayne syndrome
    Andriy Khobta
    Institute of Pharmacy and Biochemistry, University of Mainz, Staudingerweg 5, D 55099 Mainz, Germany
    Mech Ageing Dev 134:253-60. 2013
    ..DNA modifications and the resulting genetic instability can potentially explain the clinical symptoms of Cockayne syndrome (CS), a hereditary disease characterized by developmental defects and neurological degeneration...
  69. pmc Interaction between the Cockayne syndrome B and p53 proteins: implications for aging
    Mattia Frontini
    Department of Haematology, University of Cambridge, CB2 0PT, Cambridge, United Kingdom
    Aging (Albany NY) 4:89-97. 2012
    ..CSB is very often found mutated in Cockayne syndrome, a segmental progeroid genetic disease characterized by organ degeneration and growth failure...
  70. ncbi Maternal origin of a de novo microdeletion spanning the ERCC6 gene in a classic form of the Cockayne syndrome
    Huiwen Zhang
    Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China
    Eur J Med Genet 54:e389-93. 2011
    The Cockayne syndrome is a rare autosomal recessive disease characterized by a general developmental delay, the unique face, and abnormal skin sensitivity to sunlight...
  71. ncbi Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity
    S Colella
    Istituto di Genetica Biochimica ed Evoluzionistica CNR, via Abbiategrasso 207, 27100 Pavia, Italy
    Hum Mol Genet 8:935-41. 1999
    b>Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by postnatal growth failure, mental retardation and otherwise clinically heterogeneous features which commonly include cutaneous photosensitivity...
  72. pmc Cockayne syndrome B protein regulates the transcriptional program after UV irradiation
    Luca Proietti-De-Santis
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM, Illkirch, CU Strasbourg, France
    EMBO J 25:1915-23. 2006
    The phenotype of the human genetic disorder Cockayne syndrome (CS) is not only due to DNA repair defect but also (and perhaps essentially) to a severe transcription initiation defect...
  73. ncbi CSA and CSB proteins interact with p53 and regulate its Mdm2-dependent ubiquitination
    Paolo Latini
    Unit of Molecular Genetics of Aging, DEB, University of Tuscia, Viterbo, Italy
    Cell Cycle 10:3719-30. 2011
    Mutations in Cockayne syndrome (CS) A and B genes (CSA and CSB) result in a rare genetic disease that affects the development and homeostasis of a wide range of tissues and organs...
  74. ncbi Xeroderma pigmentosum group E and DDB2, a smaller subunit of damage-specific DNA binding protein: proposed classification of xeroderma pigmentosum, Cockayne syndrome, and ultraviolet-sensitive syndrome
    Toshiki Itoh
    Department of Pathology, The University of Iowa, Carver College of Medicine, 200 Hawkins Dr, Iowa City, IA 52242, USA
    J Dermatol Sci 41:87-96. 2006
    ..These phenotypes are unique to XP-E because other XP groups show normal (XP-V) or hypersensitivity (XP-A, B, C, D, F, and G) to UV-irradiation. Thus XP-E is defined as a skin cancer prone disease with unique resistance to UV-irradiation...
  75. ncbi Defective repair of 5-hydroxy-2'-deoxycytidine in Cockayne syndrome cells and its complementation by Escherichia coli formamidopyrimidine DNA glycosylase and endonuclease III
    Mara Foresta
    Molecular Mutagenesis and DNA Repair, Istituto Nazionale Ricerca Cancro, 16132 Genova, Italy
    Free Radic Biol Med 48:681-90. 2010
    ..is inefficient in cells belonging to both complementation groups A and B of Cockayne syndrome (CS), a developmental and neurological disorder characterized by defective transcription-coupled repair...
  76. ncbi Enhancement of XPG mRNA expression by human interferon-beta in Cockayne syndrome cells
    K Sugita
    Department of Pediatrics, Faculty of Medicine, University of Chiba, Japan
    Mutat Res 408:67-72. 1998
    ..display, we have searched for genes expressed specially in human interferon (HuIFn)-beta-treated Cockayne syndrome (CS) fibroblast cells...
  77. ncbi Photosensitivity syndrome brings to light a new transcription-coupled DNA repair cofactor
    James E Cleaver
    Department of Dermatology, University of California, San Francisco, California, USA
    Nat Genet 44:477-8. 2012
    ....
  78. ncbi Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy
    D I Zafeiriou
    First Department of Pediatrics, Aristotle University of Thessaloniki, Greece
    Pediatr Res 49:407-12. 2001
    ..In cases suspected of having XP and/or early-onset Cockayne syndrome, extensive DNA repair studies should be performed to reach a correct diagnosis, thereby allowing reliable ..
  79. ncbi Cockayne syndrome: the developing phenotype
    Wen Hann Tan
    Division of Genetics, Children s Hospital Boston and Harvard Medical School, Boston, Massachusetts 02115, USA
    Am J Med Genet A 135:214-6. 2005
    b>Cockayne syndrome is a rare autosomal recessive condition comprising microcephaly, "cachectic dwarfism" and progressive neurological degeneration...
  80. doi Perioperative management of patients with Cockayne syndrome - recognition of accelerated aging with growth arrest
    Sreekrishna Raghavendran
    Paediatr Anaesth 18:360-1. 2008
  81. ncbi Cockayne syndrome in 2 siblings
    Hanan A Hamamy
    National Center for Diabetes, Endocrinology and Genetics, Jordan University Hospital, Amman, Jordan
    Saudi Med J 26:875-9. 2005
    b>Cockayne syndrome is a rare autosomal recessive condition characterized by growth failure and multisystem progressive degeneration...
  82. pmc Retinal degeneration and ionizing radiation hypersensitivity in a mouse model for Cockayne syndrome
    Theo G M F Gorgels
    Department of Genetics, Erasmus University Medical Center, 3000 CA Rotterdam, The Netherlands
    Mol Cell Biol 27:1433-41. 2007
    Mutations in the CSB gene cause Cockayne syndrome (CS), a DNA repair disorder characterized by UV sensitivity and severe physical and neurological impairment...
  83. ncbi RNA polymerase II elongation complexes containing the Cockayne syndrome group B protein interact with a molecular complex containing the transcription factor IIH components xeroderma pigmentosum B and p62
    D Tantin
    UCLA Molecular Biology Institute, Los Angeles, California 90095 1570, USA
    J Biol Chem 273:27794-9. 1998
    ..Genetic studies indicate that this transcription-coupled repair is dependent on the Cockayne syndrome group A and B proteins, as well as TFIIH subunits...
  84. ncbi Cockayne syndrome type A: novel mutations in eight typical patients
    Debora R Bertola
    Genetics Clinic Unit, Instituto da Criança do Hospital das Clínicas, University of Sao Paulo, Sao Paulo, Brazil
    J Hum Genet 51:701-5. 2006
    b>Cockayne syndrome is a rare autosomal recessive neurodegenerative disorder. It is considered to be a heterogeneous condition based on complementation in cell fusion studies, with two major forms, namely CS-A and CS-B...
  85. ncbi [Cockayne syndrome]
    Xue Mei Wang
    Department of Pediatrics, Peking University Third Hospital, Beijing 100191, China
    Zhongguo Dang Dai Er Ke Za Zhi 13:141-4. 2011
    b>Cockayne syndrome is a rare autosomal recessive disease. This paper reports a case of Cockayne syndrome confirmed by gene analysis...
  86. pmc Evidence for premature aging due to oxidative stress in iPSCs from Cockayne syndrome
    Luciana Nogueira de Sousa Andrade
    School of Medicine, Department of Pediatrics Rady Children s Hospital San Diego, CA 92093, USA
    Hum Mol Genet 21:3825-34. 2012
    b>Cockayne syndrome (CS) is a human premature aging disorder associated with neurological and developmental abnormalities, caused by mutations mainly in the CS group B gene (ERCC6)...
  87. ncbi The transcriptional response after oxidative stress is defective in Cockayne syndrome group B cells
    Kasper J Kyng
    Laboratory of Molecular Gerontology, National Institute on Aging, 5600 Nathan Schock Drive, National Institute of Health, Baltimore, MD 21224, USA
    Oncogene 22:1135-49. 2003
    b>Cockayne syndrome (CS) is a human hereditary disease belonging to the group of segmental progerias, and the clinical phenotype is characterized by postnatal growth failure, neurological dysfunction, cachetic dwarfism, photosensitivity, ..
  88. ncbi Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6
    Tzipora C Falik-Zaccai
    Institute of Medical Genetics, Western Galilee Hospital, Nahariya, Israel
    Am J Med Genet A 146:1423-9. 2008
    b>Cockayne syndrome (CS) (OMIM #133540) is a rare autosomal recessive disease characterized by severe growth and developmental retardation, progressive neurological dysfunction and symptoms of premature aging...
  89. ncbi Cockayne's syndrome: a case report. Literature review
    Maria de la Luz Arenas-Sordo
    Servicio de Genetica, Instituto Nacional de Rehabilitación Secretaría de Salud
    Med Oral Patol Oral Cir Bucal 11:E236-8. 2006
    ..In the x-ray we observed congenital absence of 14, 23 and 24 teeth and mandibular hipoplasia. The aim of this review is to show the dentistry community the characteristics of the Cockayne s syndrome by means of a clinical case...
  90. ncbi Xeroderma pigmentosum/cockayne syndrome complex: first neuropathological study and review of eight other cases
    Y Lindenbaum
    Saul R. Korey Department of Neurology, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Eur J Paediatr Neurol 5:225-42. 2001
    This is the first detailed description of the neuropathology of a patient with xeroderma pigmentosum/Cockayne syndrome complex (XP/CS)...
  91. pmc Cockayne syndrome in adults: review with clinical and pathologic study of a new case
    Isabelle Rapin
    Albert Einstein College of Medicine, Bronx, NY 10461, USA
    J Child Neurol 21:991-1006. 2006
    b>Cockayne syndrome and xeroderma pigmentosum-Cockayne syndrome complex are rare autosomal recessive disorders with poorly understood biology...
  92. pmc Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndrome
    Therina Theron
    Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton BN1 9RQ, United Kingdom
    Mol Cell Biol 25:8368-78. 2005
    ..xeroderma pigmentosum (XP), trichothiodystrophy, and, less frequently, the combined phenotype of XP and Cockayne syndrome (XP-D/CS)...
  93. ncbi Ultraviolet-sensitive syndrome cells are defective in transcription-coupled repair of cyclobutane pyrimidine dimers
    Graciela Spivak
    Department of Biological Sciences, Stanford University, Stanford, CA 94305 5020, USA
    DNA Repair (Amst) 1:629-43. 2002
    ..hereditary DNA repair syndromes show that UV(S)S is distinct from all known xeroderma pigmentosum (XP) and Cockayne syndrome (CS) groups...
  94. doi Adult-onset neurological degeneration in a patient with Cockayne syndrome and a null mutation in the CSB gene
    Satoru Hashimoto
    J Invest Dermatol 128:1597-9. 2008
  95. pmc Transcription factor TFIIH and DNA endonuclease Rad2 constitute yeast nucleotide excision repair factor 3: implications for nucleotide excision repair and Cockayne syndrome
    Y Habraken
    Sealy Center for Molecular Science, University of Texas Medical Branch, Galveston 77555 1061, USA
    Proc Natl Acad Sci U S A 93:10718-22. 1996
    ..nuclease is targeted to the DNA damage site and why mutations in the human RAD2 counterpart, XPG, result in Cockayne syndrome. Here we examine whether Rad2 is part of a higher order subassembly...
  96. pmc UV-induced ubiquitination of RNA polymerase II: a novel modification deficient in Cockayne syndrome cells
    D B Bregman
    Department of Pathology, Yale University School of Medicine, New Haven, CT 06520, USA
    Proc Natl Acad Sci U S A 93:11586-90. 1996
    ..UV-induced ubiquitination of Pol II LS is deficient in fibroblasts from individuals with two forms of Cockayne syndrome (CS-A and CS-B), a rare disorder in which TCR is disrupted...
  97. pmc Impaired genome maintenance suppresses the growth hormone--insulin-like growth factor 1 axis in mice with Cockayne syndrome
    Ingrid van der Pluijm
    Department of Genetics, Center for Biomedical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands
    PLoS Biol 5:e2. 2007
    b>Cockayne syndrome (CS) is a photosensitive, DNA repair disorder associated with progeria that is caused by a defect in the transcription-coupled repair subpathway of nucleotide excision repair (NER)...
  98. pmc Different effects of CSA and CSB deficiency on sensitivity to oxidative DNA damage
    Harm de Waard
    MGC, Department of Cell Biology and Genetics, Erasmus Medical Center, P O Box 1738, 3000 DR Rotterdam, The Netherlands
    Mol Cell Biol 24:7941-8. 2004
    Mutations in the CSA and CSB genes cause Cockayne syndrome, a rare inherited disorder characterized by UV sensitivity, severe neurological abnormalities, and progeriod symptoms...
  99. pmc A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function
    T Nouspikel
    Department of Genetics and Microbiology, University Medical Centre CMU, Geneva 4, Switzerland
    Proc Natl Acad Sci U S A 94:3116-21. 1997
    ..Patients with Cockayne syndrome (CS), another rare sun-sensitive disorder, are specifically defective in the preferential removal of damage ..
  100. ncbi Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition
    G T van der Horst
    Medical Genetics Center, Department of Cell Biology and Genetics, Erasmus University Rotterdam, The Netherlands
    Cell 89:425-35. 1997
    A mouse model for the nucleotide excision repair disorder Cockayne syndrome (CS) was generated by mimicking a truncation in the CSB(ERCC6) gene of a CS-B patient...
  101. ncbi Functional crosstalk between hOgg1 and the helicase domain of Cockayne syndrome group B protein
    Jingsheng Tuo
    Laboratory of Molecular Gerontology, National Institute on Aging, National Institutes of Health, Baltimore, MD 21224, USA
    DNA Repair (Amst) 1:913-27. 2002
    We have previously reported that the Cockayne syndrome group B gene product (CSB) contributes to base excision repair (BER) of 8-hydroxyguanine (8-OH-Gua) and the importance of motifs V and VI of the putative helicase domains of CSB in ..

Research Grants53

  1. Mechanisms for Transcription-Coupled Repair in Human Cells
    Priscilla K Cooper; Fiscal Year: 2010
    ..that inactivate these non-enzymatic functions result in the profound developmental and neurological disorder Cockayne syndrome (CS)...
  2. RNA Polymerase Transcription Past DNA Adducts
    David A Scicchitano; Fiscal Year: 2013
    ..nucleotide excision repair and requires at least two additional proteins that are defective in the disease Cockayne syndrome. But the overlap of TCR with other DNA repair pathways such as base excision repair has not been ..
  3. Oxidative DNA damage processing;role in human pathology and aging
    PHILIP COURTLAND HANAWALT; Fiscal Year: 2013
    ..The TCR-deficient diseases, Cockayne syndrome (CS) and UV-sensitive syndrome (UVSS), present indistinguishable biochemical responses to UV;UVSS patients ..
  4. R15 AREA: Replication in the Presence of Oxidative DNA damage
    Justin Courcelle; Fiscal Year: 2012
    ..Parkinsons, Alzhiemers, amyotrophic lateral sclerosis, Friedreich's ataxia, Fanconi anemia, and Cockayne syndrome. In addition, there is increasing evidence to suggest that reactive oxygen species play a significant role ..
  5. Aging and the unstable epigenome
    Gerd P Pfeifer; Fiscal Year: 2013
    ..In addition, we will analyze these marks in Cockayne syndrome cells, a premature aging syndrome...
  6. Molecular Mechanisms of Nitroarene Toxicity
    Carlos R de los Santos; Fiscal Year: 2013
    ..Xeroderma Pigmentosum and Cockayne syndrome, two genetic diseases caused by NER deficiencies, are flagrant examples of the damaging consequences that ..
  7. Methods for generalized ontology terms enrichment analysis
    Nigam Shah; Fiscal Year: 2013
    ..g., Werner's syndrome, Cockayne syndrome, Burkitt's lymphoma, and Rothmund-Thomson Syndrome are all related by the fact that they share the same ..
  8. Tumorigenic Role of the CUL4A Ubiquitin Ligase
    Pengbo Zhou; Fiscal Year: 2013
    ..and patient clinico-pathological information, and (3) we discovered a novel function of the Cockayne syndrome A (CSA) DNA repair protein in CUL4 (CUL4A and its family member CUL4B)- dependent degradation of ..
  9. Cockayne syndrome: role of the innate immune response in neurodegeneration
    Alan M Weiner; Fiscal Year: 2013
    ..the causes and molecular mechanisms of a devastating childhood neurodevelopmental progeria known as Cockayne syndrome (CS)...
  10. FUNCTIONAL ANALYSIS OF RAD23 PROTEIN
    Kiran Madura; Fiscal Year: 2013
    ..basis of nucleotide excision repair (NER), there is no cure for individuals with Xeroderma pigmentosum, Cockayne Syndrome, Fanconi Anemia, and other DNA repair defects...
  11. Basis for Distinct Functions of ATP-Dependent Chromatin Remodeling Complexes
    Hua ying Fan; Fiscal Year: 2012
    ..The experiments outlined here focus on understanding how the CSB (Cockayne Syndrome complementation group B) chromatin remodeler modulates chromatin structure and how defects in this protein ..
  12. Structural Biology of XPB and XPD Helicases
    John A Tainer; Fiscal Year: 2013
    ..different phenotypes reflecting increased cancers or aging: xeroderma pigmentosum (XP), XP combined with Cockayne syndrome (CS), and trichothiodystrophy (TTD)...
  13. FASEB CONFERENCE: HELICASES: STRUCTURE, FUNCTION
    Smita Patel; Fiscal Year: 2003
    ..Recently it has been found that several inherited human diseases (e.g. Bloom syndrome, Werner syndrome, Cockayne syndrome and Xeroderma pigmentosum) are caused by defects in genes encoding specific helicases...
  14. Helicases: Structure, Function, & Roles in Human Disease
    STEVEN MATSON; Fiscal Year: 2001
    ..g. Bloom syndrome, Werner syndrome, Cockayne syndrome and Xeroderma pigmentosum) are caused by mutations in specific helicases...
  15. FASEB Summer Conference on Helicase and NTP-Driven Nucleic Acid Motors: Structure
    Timothy Lohman; Fiscal Year: 2007
    ..g. Bloom syndrome, Werner syndrome, Cockayne syndrome and Xeroderma pigmentosum) are caused by defects in genes encoding specific helicases...
  16. EXCISION REPAIR OF UV IRRADIATED DNA IN YEAST
    Satya Prakash; Fiscal Year: 2001
    ..and cs rad3 mutations (identical to mutations in the human XPDC gene, the RAD3 homolog, that cause Cockayne syndrome, CS), are defective in preferential repair of the transcribed DNA strand...
  17. Genomic Plasticity in the Human U2 snRNA Cluster
    Alan Weiner; Fiscal Year: 2006
    ..is required for RNU2 metaphase fragility; all conditions that induce fragility also induce p53; loss of CSB (Cockayne Syndrome Group B protein), a putative transcription elongation factor required for transcription-coupled repair (TCR),..
  18. Coupling mRNA processing with transcription elongation
    Soojin Kim; Fiscal Year: 2007
    ..Deregulation of transcription elongation is implicated in human diseases, such as in acute myeloid leukemia, Cockayne syndrome, and Von Hippel-Lindau disease, although the mechanism behind how altered transcription elongation ..
  19. FASEB RESEARCH CONFERENCE--MOLECULAR GERONTOLOGY
    S Jazwinski; Fiscal Year: 1999
    ..We will hear about the molecular and biochemical studies in Werners syndrome, Cockayne syndrome and Bloom syndrome (Drs...
  20. Transcription coupled repair of oxidative DNA damage
    BRETT HALTIWANGER; Fiscal Year: 2003
    A number of genetic diseases, such as xeroderma pigmentosum and Cockayne syndrome involve defects in the processing of DNA damage...
  21. CONFERENCE--DNA DAMAGE EFFECTS ON STRUCTURE
    Susan Wallace; Fiscal Year: 1993
    ..in several human genetic diseases such as xeroderma pigmentosum, ataxia telangiectasia, Bloom's syndrome, Cockayne syndrome, Fanconi anemia, among others...
  22. Biological Role of XPG DNA Repair Protein Interactions with WRN and BLM Helicases
    KELLY TREGO; Fiscal Year: 2009
    ..functions of XPG lead to a severe neurological and developmental disorder with symptoms of premature aging, Cockayne syndrome (XP-G/CS)...
  23. CELL CYCLE REGULATION BY THE HPV ONCOPROTEIN E7
    Pradip Raychaudhuri; Fiscal Year: 2002
    ..DDB possesses homology with the Cockayne syndrome protein GS-A, which is involved in transcription-coupled repair (TCR)...
  24. DNA Damage and Neurodegeneration in Cockayne Syndrome
    James Cleaver; Fiscal Year: 2009
    b>Cockayne syndrome (CS) is a progressive childhood neurodegenerative disorder associated with a DNA repair defect. Two genes, CSA and CSB, are specifically involved in the CS disorder...
  25. The XP Variant: A Human Mutator Gene for UV Damage
    James Cleaver; Fiscal Year: 2005
    ..We will express hRad3O on the keratin 14 promoter for over-expression in the skin, and make targeted knockout of mRad3O in vivo to identify roles for hRad3O in promoting and preventing carcinogenesis. ..
  26. OXIDATIVE DNA DAMAGE, TRANSCRIPTION, REPAIR AND AGING
    Susan Wallace; Fiscal Year: 2000
    ..replicative senescence model system, human fetal lung fibroblasts, and fibroblasts obtained from Werner and Cockayne syndrome patients. Similar studies will be done in differentiated human neuronal cells in culture...
  27. DNA Damage Clusters: Repair in Mammalian Cells
    Betsy Sutherland; Fiscal Year: 2004
    ..human diseases known to involve both radiation sensitivity and poor metabolism of oxidative damages, such as Cockayne syndrome and ataxia telangiectasia...
  28. DNA Interstrand Crosslinks, Cancer and Aging
    Laura Niedernhofer; Fiscal Year: 2007
    ..The technique will be applied to wild type and ICL repair-defective Ercc1-/- cells to determine what proteins assemble specifically at sites of lCL damage and in what chronological order. ..
  29. DNA REPAIR AND ITS RELATIONSHIP TO CARCINOGENESIS
    Errol Friedberg; Fiscal Year: 2001
    ..of the human cancer-prone, hereditary repair-defective diseases xeroderma pigmentosum (XP) and the disease Cockayne syndrome (CS) which is believed to be defective in a transcription-dependent NER mode...
  30. Dietary Cancer Prevention in DNA Repair Deficient Mice
    Laura Niedernhofer; Fiscal Year: 2007
    ..Finally, these experiments will reveal if ERCC1-XPF hypomorphic mice are a useful model for screening anti-oxidants that may reduce cancer risk. [unreadable] [unreadable] [unreadable]..
  31. DNA REPAIR AND CANCER PRONE HEREDITARY HUMAN DISEASE
    Errol Friedberg; Fiscal Year: 2002
    ....
  32. MOUSE MODELS OF DNA REPAIR - DEFECTIVE HUMAN DISEASES
    Errol Friedberg; Fiscal Year: 2011
    ..abstract_text> ..
  33. Coordination of the late steps of human nucleotide excision repair
    ORLANDO D SCHARER; Fiscal Year: 2010
    ..Since NER proteins also contribute to the resistance of tumor cells to anti-cancer agents our investigations may also provide new targets for anti- tumor therapy. ..
  34. Phase II study of cholic acid for hepatic steatosis in *
    Abhimanyu Garg; Fiscal Year: 2008
    ..The effectiveness of cholic acid in reducing hepatic steatosis in humans remains unknown. [unreadable] [unreadable]..
  35. DNA Unwinding and Translocation by Helicases
    KEVIN RANEY; Fiscal Year: 2007
    ..Lastly, new methods will be developed to observe helicase translocation and unwinding directly in single molecule experiments. [unreadable] [unreadable]..
  36. Fetal DNA oxidation and repair in neurodegeneration
    Peter Wells; Fiscal Year: 2007
    ..Oxoguanine glycosylase 1 (ogg1) knockout (BER-deficient) and Cockayne syndrome B (CSB) knockout (TCR-deficient) mice will be tested as repair-deficient models, while transgenic mice ..
  37. MOUSE MODELS OF DOWN SYNDROME: PHENOTYPIC MAPPING
    Charles Epstein; Fiscal Year: 2002
    ....
  38. MECHANISM OF HEPACIVIRUS REPLICASE ASSEMBLY
    KEVIN RANEY; Fiscal Year: 2003
    ..This work will provide the initial step toward our long term goal of recapitulating HCV replication in vitro using biologically relevant proteins and RNA. ..
  39. MOLECULAR ANALYSIS OF TRANSCRIPTIONAL ADAPTORS
    Leonard Guarente; Fiscal Year: 2001
    ..Finally, a possible link between this coactivator and TBP will be investigated genetically and biochemically. ..
  40. Transcription Coupled DNA Repair and Human Disease
    Philip Hanawalt; Fiscal Year: 2006
    ..a deficiency in GGR is well-known to predispose to cancer, a defect in TCR, as in the hereditary disease Cockayne syndrome (CS), does not...
  41. 9th International Conference on Environmental Mutagens
    Philip Hanawalt; Fiscal Year: 2005
    ..The new scientific information and insights from this Conference will be of importance to wise policy decisions to protect the public from significant environmental health hazards. ..
  42. GENETIC ANALYSIS OF NUCLEOTIDE EXCISION REPAIR
    LAWRENCE THOMPSON; Fiscal Year: 2002
    ..These mechanistic insights will guide future structural studies on ERCC2. ..
  43. Transcription coupled DNA repair in E. Coli
    Philip Hanawalt; Fiscal Year: 2006
    ..Gene expression profiles during thymine deprivation will be assessed by microarrays. The results of these experiments are relevant to an understanding of the adverse consequences of folate deprivation in humans. ..
  44. FANCONI ANEMIA GENE PATHWAY IN RADIATION RESPONSES
    LAWRENCE THOMPSON; Fiscal Year: 2004
    ..The results of these studies will lead to more specific models of the nature of the FA protein "pathway" and its quantitative contributions to multiple biological effects associated with IR-mediated oxidative damage. ..
  45. Homologous Recombination & Human Cell Radiosensitivity
    LAWRENCE THOMPSON; Fiscal Year: 2009
    ..These integrated studies may lead to a more rational basis for cancer radiotherapy and bring'insights into how HRR prevents the initiation of carcihogenesis by endogenous processes and exogenous agents. ..
  46. HCV NS3: Biological, Biochemical and Structural Analysis
    KEVIN RANEY; Fiscal Year: 2006
    ..We have found that NS5A binds tightly to RNA and to NS5B. We will now examine possible functional interactions between NS5A, NS3, and NS5B and attempt to solve the crystal structure of NS5A. ..
  47. Role of transcription in genomic stability
    Philip Hanawalt; Fiscal Year: 2008
    ..abstract_text> ..
  48. Novel Therapies for Metabolic Complications in Patients with Lipodystrophies
    Abhimanyu Garg; Fiscal Year: 2010
    ..Additionally, the findings may be applicable to treating metabolic complications in patients with obesity and type 2 diabetes. ..
  49. MECHANISMS OF LIPODYSTROPHY IN HIV INFECTED PATIENTS
    Abhimanyu Garg; Fiscal Year: 2002
    ..Additionally, the study may prove effectiveness and reduced toxicity of alternative antiretroviral regimens without a PI. ..
  50. Therapeutic Approaches to HAART-Induced Lipodystrophy
    Abhimanyu Garg; Fiscal Year: 2006
    ..Additionally, the study may help prevent these problems in HIV-infected patients being initiated on PI-containing HAART. ..
  51. AGE RELATED DEGENERATION
    Charles Epstein; Fiscal Year: 2002
    ....
  52. REGULATION OF P53 STABILITY BY SER315 PHOSPHORYLATION
    Mats Ljungman; Fiscal Year: 2002
    ..We will express wild-type or mutant CDC14 in MCF7 cells and study what effect it will have on basal and induced levels of p53. ..