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. 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
  2. ncbi 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
  3. 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
  4. 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
  5. ncbi 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
  6. ncbi 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
  7. ncbi 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
  8. ncbi 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
  9. ncbi 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
  10. ncbi 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

Research Grants

  1. Mechanisms for Transcription-Coupled Repair in Human Cells
    PRISCILLA COOPER; Fiscal Year: 2009
  2. Mechanisms for Transcription-Coupled Repair in Human Cells
    Priscilla K Cooper; Fiscal Year: 2010
  3. RNA Polymerase Transcription Past DNA Adducts
    David A Scicchitano; Fiscal Year: 2011
  4. RNA Polymerase Transcription Past DNA Adducts
    David A Scicchitano; Fiscal Year: 2010
  5. TRANSCRIPTION COUPLED REPAIR IN EUKARYOTIC CELLS
    STEVEN LEADON; Fiscal Year: 1999
  6. FASEB CONFERENCE: HELICASES: STRUCTURE, FUNCTION
    Smita Patel; Fiscal Year: 2003
  7. FASEB Summer Conference on Helicase and NTP-Driven Nucleic Acid Motors: Structure
    Timothy Lohman; Fiscal Year: 2007
  8. Transcription-coupled DNA repair in yeast
    Satya Prakash; Fiscal Year: 2007
  9. ELASTIN AND COLLAGEN IN THE AGING PROCESS
    JEFFREY DAVIDSON; Fiscal Year: 1993
  10. Mechanisms for Transcription-Coupled Repair in Human Cells
    PRISCILLA COOPER; Fiscal Year: 2007

Detail Information

Publications210 found, 100 shown here

  1. 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...
  2. ncbi 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...
  3. 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...
  4. 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...
  5. ncbi 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)...
  6. ncbi 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
  7. ncbi 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...
  8. ncbi 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...
  9. ncbi 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...
  10. ncbi 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...
  11. ncbi 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...
  12. 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 ..
  13. 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])...
  14. ncbi 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)...
  15. 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...
  16. ncbi Identification of the XPG region that causes the onset of Cockayne syndrome by using Xpg mutant mice generated by the cDNA-mediated knock-in method
    Naoko Shiomi
    Research Center for Radiation Safety, National Institute of Radiological Sciences, Inage Ku, Chiba 263 8555, Japan
    Mol Cell Biol 24:3712-9. 2004
    In addition to xeroderma pigmentosum (XP), mutations in the human XPG gene cause early onset of Cockayne syndrome (CS) in some patients (XPG/CS). The CS-causing mutations in such patients all produce truncated XPG proteins...
  17. ncbi 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...
  18. ncbi 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...
  19. 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...
  20. 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...
  21. ncbi 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...
  22. ncbi 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...
  23. ncbi Cockayne syndrome group B cellular and biochemical functions
    Cecilie Löe Licht
    Laboratory of DNA Repair, Department of Molecular Biology, University of Aarhus, Aarhus, Denmark
    Am J Hum Genet 73:1217-39. 2003
    The devastating genetic disorder Cockayne syndrome (CS) arises from mutations in the CSA and CSB genes. CS is characterized by progressive multisystem degeneration and is classified as a segmental premature-aging syndrome...
  24. ncbi 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)...
  25. ncbi 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...
  26. ncbi New insights into the combined Cockayne/xeroderma pigmentosum complex: human XPG protein can function in transcription factor stability
    Errol C Friedberg
    Laboratory of Molecular Pathology, Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX 75390 9072, USA
    Mol Cell 26:162-4. 2007
    ..2007], this issue of Molecular Cell). This observation likely explains some of the clinical features of individuals with both defective DNA repair and development...
  27. 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...
  28. ncbi XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients
    Shinsuke Ito
    Laboratories for Organismal Biosystems, Graduate School of Frontier Biosciences, Osaka University, Osaka, Japan
    Mol Cell 26:231-43. 2007
    ..human XPG gene give rise to an inherited photosensitive disorder, xeroderma pigmentosum (XP) associated with Cockayne syndrome (XP-G/CS)...
  29. ncbi Mechanisms of transcription-coupled DNA repair
    Jesper Q Svejstrup
    Imperial Cancer Research Fund, Clare Hall Laboratories, Blanche Lane, South Mimms, Hertfordshire EN6 3LD, UK
    Nat Rev Mol Cell Biol 3:21-9. 2002
    ..In this review, our knowledge of eukaryotic transcription-coupled repair (TCR) will be considered from the point of view of transcription, and current models for the mechanism of TCR will be discussed...
  30. 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...
  31. ncbi Requirement for yeast RAD26, a homolog of the human CSB gene, in elongation by RNA polymerase II
    S K Lee
    Sealy Center for Molecular Science, University of Texas Medical Branch, 6 104 Blocker Medical Research Building, 11th and Mechanic Streets, Galveston, TX 77555 1061, USA
    Mol Cell Biol 21:8651-6. 2001
    Mutations in the human CSB gene cause Cockayne syndrome (CS). In addition to increased photosensitivity, CS patients suffer from severe developmental abnormalities, including growth retardation and mental retardation...
  32. 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 ..
  33. ncbi The Cockayne Syndrome group B gene product is involved in general genome base excision repair of 8-hydroxyguanine in DNA
    J Tuo
    Laboratory of Molecular Gerontology, NIA, National Institutes of Health, Baltimore, Maryland 21224, USA
    J Biol Chem 276:45772-9. 2001
    b>Cockayne Syndrome (CS) is a human genetic disorder with two complementation groups, CS-A and CS-B. The CSB gene product is involved in transcription-coupled repair of DNA damage but may participate in other pathways of DNA metabolism...
  34. ncbi Three novel mutations responsible for Cockayne syndrome group A
    Yan Ren
    Graduate School of Frontier Biosciences, Osaka University, Suita, Osaka, Japan
    Genes Genet Syst 78:93-102. 2003
    b>Cockayne syndrome (CS) is a rare autosomal recessive disease, which shows diverse clinical symptoms such as photosensitivity, severe mental retardation and developmental defects...
  35. 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...
  36. ncbi Nucleotide excision repair and its interplay with transcription
    Anneke van Hoffen
    MGC-Department of Toxicogenetics, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands
    Toxicology 193:79-90. 2003
    ..In GGR, the XPC-HR23B is essential for the formation of the incision complex. In TCR the Cockayne syndrome (CS) gene products are key players in the recognition of a stalled RNA polymerase the presumed signaling ..
  37. ncbi 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...
  38. 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...
  39. 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...
  40. ncbi 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 ..
  41. ncbi Defective transcription-coupled repair of oxidative base damage in Cockayne syndrome patients from XP group G
    P K Cooper
    Life Sciences Division, Building 934, Lawrence Berkeley National Laboratory, University of California, 1 Cyclotron Road, Berkeley, CA 94720, USA
    Science 275:990-3. 1997
    ..repair (NER) in a transcription-coupled repair (TCR) process that requires the gene products defective in Cockayne syndrome (CS)...
  42. 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...
  43. ncbi Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy: do the genes explain the diseases?
    G Chu
    Department of Medicine, Stanford University Medical Center, CA 94305, USA
    Trends Genet 12:187-92. 1996
    Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy are three distinct human syndromes associated with sensitivity to ultraviolet radiation...
  44. ncbi ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes
    C Troelstra
    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    Cell 71:939-53. 1992
    ..Mutation analysis of a CS-B patient indicates that the gene is not essential for cell viability and is specific for preferential repair of transcribed sequences...
  45. ncbi Molecular cloning and characterization of Saccharomyces cerevisiae RAD28, the yeast homolog of the human Cockayne syndrome A (CSA) gene
    P K Bhatia
    Laboratory of Molecular Pathology, Department of Pathology, University of Texas Southwestern Medical Center, Dallas 75235, USA
    J Bacteriol 178:5977-88. 1996
    b>Cockayne syndrome patients exhibit severe developmental and neurological abnormalities...
  46. ncbi Cooperation of the Cockayne syndrome group B protein and poly(ADP-ribose) polymerase 1 in the response to oxidative stress
    Tina Thorslund
    Danish Center for Molecular Gerontology, Department of Molecular Biology, University of Aarhus
    Mol Cell Biol 25:7625-36. 2005
    b>Cockayne syndrome (CS) is a rare genetic disorder characterized as a segmental premature-aging syndrome...
  47. ncbi The Cockayne syndrome group B protein is a functional dimer
    Mette Christiansen
    Danish Centre for Molecular Gerontology, Department of Molecular Biology, University of Aarhus, Denmark
    FEBS J 272:4306-14. 2005
    b>Cockayne syndrome (CS) is a rare inherited human genetic disorder characterized by developmental abnormalities, UV sensitivity, and premature aging...
  48. ncbi Structure and expression of the excision repair gene ERCC6, involved in the human disorder Cockayne's syndrome group B
    C Troelstra
    Department of Cell Biology and Genetics, Erasmus University Rotterdam, The Netherlands
    Nucleic Acids Res 21:419-26. 1993
    ..Analysis of ERCC6 cDNA clones revealed the occurrence of alternative polyadenylation, resulting in the (differential) expression of two mRNA molecules (which are barely detectable on Northern blots) of 5 and 7 kb in length...
  49. 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...
  50. 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...
  51. ncbi The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH
    K A Henning
    Department of Pathology, University of Texas Southwestern Medical Center, Dallas 75235, USA
    Cell 82:555-64. 1995
    The hereditary disease Cockayne syndrome (CS) is characterized by a complex clinical phenotype. CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes...
  52. ncbi siRNA-mediated silencing of Cockayne Cyndrome group B gene potentiates radiation-induced apoptosis and antiproliferative effect in HeLa cells
    Feng Liu
    Department of Radiation Toxicology and Oncology, Beijing Institute of Radiation Medicine, Beijing 100850, China
    Chin Med J (Engl) 119:731-9. 2006
    BACKGROUND: Cockayne syndrome (CS) is a rare human genetic disorder characterized by increased UV sensitivity, developmental abnormalities and premature aging...
  53. ncbi A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome
    L Kleppa
    Centre for Molecular Biology and Neuroscience and Institute of Medical Microbiology, Rikshospitalet Radiumhospitalet HF, University of Oslo, N 0027 Oslo, Norway
    Neuroscience 145:1397-406. 2007
    b>Cockayne syndrome (CS) is mainly caused by mutations in the Cockayne syndrome group A or B (CSA or CSB) genes which are required for a sub-pathway of nucleotide excision repair entitled transcription coupled repair...
  54. ncbi Cockayne syndrome: defective repair of transcription?
    A J van Gool
    MGC Department of Cell Biology and Genetics, Erasmus University Rotterdam, The Netherlands
    EMBO J 16:4155-62. 1997
    ..While the E. coli model still functions as a paradigm for TCR in eukaryotes, recent observations prompt us to believe that the situation in eukaryotes is much more complex, involving dual functionality of multiple proteins...
  55. ncbi 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)...
  56. ncbi Early postnatal ataxia and abnormal cerebellar development in mice lacking Xeroderma pigmentosum Group A and Cockayne syndrome Group B DNA repair genes
    M Murai
    Division of Protein Biosynthesis, Institute for Protein Research, Osaka University, 3 2 Yamadaoka, Suita, Osaka 565 0871, Japan
    Proc Natl Acad Sci U S A 98:13379-84. 2001
    Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are rare autosomal recessive disorders associated with a defect in the nucleotide excision repair (NER) pathway required for the removal of DNA damage induced by UV light and ..
  57. 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...
  58. 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...
  59. ncbi 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 ..
  60. ncbi The many faces of Cockayne syndrome
    Graciela Spivak
    Department of Biological Sciences, Stanford University, Stanford, CA 94305-5020, USA
    Proc Natl Acad Sci U S A 101:15273-4. 2004
  61. ncbi The Cockayne syndrome B protein, involved in transcription-coupled DNA repair, resides in an RNA polymerase II-containing complex
    A J van Gool
    MGC Department of Cell Biology and Genetics, Erasmus University Rotterdam, PO Box 1738, 3000 DR, Rotterdam, The Netherlands
    EMBO J 16:5955-65. 1997
    Transcription-coupled repair (TCR), a subpathway of nucleotide excision repair (NER) defective in Cockayne syndrome A and B (CSA and CSB), is responsible for the preferential removal of DNA lesions from the transcribed strand of active ..
  62. ncbi 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...
  63. ncbi 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...
  64. ncbi Transcriptional profiles of unirradiated or UV-irradiated human cells expressing either the cancer-prone XPB/CS allele or the noncancer-prone XPB/TTD allele
    Renata Maria Augusto da Costa
    Laboratory of Genetic Instability and Cancer UPR2169 CNRS, Gustave Roussy Institute, 94805, Villejuif Cedex, France
    Oncogene 24:1359-74. 2005
    ..These results provide a detailed portrait of expression profiles that may potentially unravel the causes of the different phenotypes of XP/CS and TTD patients...
  65. ncbi Transcription activities at 8-oxoG lesions in DNA
    Elisabeth Larsen
    Centre for Molecular Biology and Neuroscience, Institute of Medical Microbiology, National Hospital, University of Oslo, 0027 Oslo, Norway
    DNA Repair (Amst) 3:1457-68. 2004
    ..The mild phenotype of OGG1 null mice has been attributed to the existence of alternative pathways, including Cockayne syndrome B (CSB)-dependent transcription coupled repair (TCR), for removal of 8-oxoG...
  66. ncbi UVB radiation-induced cancer predisposition in Cockayne syndrome group A (Csa) mutant mice
    Gijsbertus T J van der Horst
    Department of Cell Biology and Genetics, Medical Genetics Centre, Erasmus University Rotterdam, The Netherlands
    DNA Repair (Amst) 1:143-57. 2002
    b>Cockayne syndrome (CS) is an inherited photosensitive neurodevelopmental disorder caused by a specific defect in the transcription-coupled repair (TCR) sub-pathway of NER...
  67. ncbi Potassium bromate but not X-rays cause unexpectedly elevated levels of DNA breakage similar to those induced by ultraviolet light in Cockayne syndrome (CS-B) fibroblasts
    P Mosesso
    Universita degli Studi della Tuscia, Dipartimento di Agrobiologia e Agrochimica, Viterbo, Italy
    Cytogenet Genome Res 104:178-81. 2004
    ..from patients with combined characteristics of xeroderma pigmentosum complementation group D (XP-D) and Cockayne syndrome (CS) XP-D/CS fibroblasts following UV irradiation is caused by an "uncontrolled" incision of ..
  68. ncbi Ageing: repair and transcription keep us from premature ageing
    Alan Lehmann
    Genome Damage and Stability Centre, University of Sussex, Falmer, BN1 9RQ, Brighton, UK
    Curr Biol 12:R550-1. 2002
    ..Trichothiodystrophy (TTD) is a complex disorder caused by mutations in the XPD gene which affect both DNA repair and transcription. A mouse with a TTD mutation has now been found to display remarkable signs of premature ageing...
  69. ncbi Nucleotide excision repair
    Joyce T Reardon
    Department of Biochemistry and Biophysics, University of North Carolina School of Medicine, Chapel Hill, North Carolina 27599, USA
    Prog Nucleic Acid Res Mol Biol 79:183-235. 2005
  70. ncbi Ocular manifestations in the inherited DNA repair disorders
    Helene Dollfus
    Fédération de Génétique Médicale, Clinique Ophtalmologique, Hopitaux Universitaires de Strasbourg, Strasbourg, France
    Surv Ophthalmol 48:107-22. 2003
    ..Inherited conditions due to mutations in DNA repair genes include mainly: xeroderma pigmentosum, Cockayne syndrome, Trichothiodystrophy, Bloom syndrome, Rothmund-Thomson syndrome, and Werner syndrome...
  71. ncbi 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...
  72. ncbi Two new XPD patients compound heterozygous for the same mutation demonstrate diverse clinical features
    Mitsuo Fujimoto
    Department of Dermatology, Jichi Medical School, Japan
    J Invest Dermatol 125:86-92. 2005
    Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are both rare autosomal recessive disorders with defects in DNA repair...
  73. ncbi Restoring DNA repair capacity of cells from three distinct diseases by XPD gene-recombinant adenovirus
    Melissa Gava Armelini
    Department of Microbiology, Institute of Biomedical Sciences, , , Brazil
    Cancer Gene Ther 12:389-96. 2005
    ..that act in this system result in three distinct autosomal recessive syndromes: xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD)...
  74. ncbi The case for 8,5'-cyclopurine-2'-deoxynucleosides as endogenous DNA lesions that cause neurodegeneration in xeroderma pigmentosum
    P J Brooks
    Section on Molecular Neurobiology, Laboratory of Neurogenetics, National Institute on Alcohol Abuse and Alcoholism, 5625 Fishers Lane, Room 3S32, MSC 9412, Rockville, MD 20852, USA
    Neuroscience 145:1407-17. 2007
    ..A similar set of criteria might be used to evaluate other candidate DNA lesions responsible for neurological diseases resulting from defects in other DNA repair mechanisms as well...
  75. ncbi Abnormal kinetics of induction of UV-stimulated recombination in human DNA repair disorders
    Peter J Abrahams
    Department of Toxicogenetics, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands
    DNA Repair (Amst) 2:1211-25. 2003
    ..and persists for longer periods in DNA repair deficient fibroblasts derived from xeroderma pigmentosum (XP), Cockayne syndrome (CS) and Trichothiodystrophy (TTD) patients...
  76. ncbi Blockage of transcription as a trigger for p53 accumulation by 2-acetylaminofluorene DNA-adducts
    Hilde E van Gijssel
    Division of Toxicology, Leiden Amsterdam Center for Drug Research, Leiden University, Leiden, The Netherlands
    Life Sci 73:1759-71. 2003
    ..deficient xeroderma pigmentosum group A (XPA) cells, XPC cells [only transcription coupled repair (TCR)] and Cockayne syndrome (CS)B cells [only global genome repair (GGR)]...
  77. ncbi DNA damage in transcribed genes induces apoptosis via the JNK pathway and the JNK-phosphatase MKP-1
    Mohamed Hamdi
    Department of Molecular Cell Biology, Leiden University Medical Center, Wassenaarseweg 72, 2333AL Leiden, The Netherlands
    Oncogene 24:7135-44. 2005
    ..targets c-Jun and ATF-3 in TCR-deficient primary human fibroblasts from Xeroderma Pigmentosum (XP) and Cockayne syndrome (CS) patients...
  78. ncbi Increased expression of p53 enhances transcription-coupled repair and global genomic repair of a UVC-damaged reporter gene in human cells
    Diana Dregoesc
    Department of Biology, McMaster University, Hamilton, Ontario L8S 4K1, Canada
    DNA Repair (Amst) 6:588-601. 2007
    ..for the UVC-treated reporter construct in normal fibroblasts and in xeroderma pigmentosum (XP) and Cockayne syndrome (CS) fibroblasts deficient in GGR, TCR, or both...
  79. ncbi Mechanisms of formation of chromosomal aberrations: insights from studies with DNA repair-deficient cells
    F Palitti
    Department of Agrobiology and Agrochemistry, University of Tuscia, Viterbo, Italy
    Cytogenet Genome Res 104:95-9. 2004
    ..Hypersensitivity to the induction of chromosomal damage by inhibitors of antitopoisomerases I and II in Werner's syndrome cells is also discussed in relation to the compromised G2 phase processes involving the Werner protein...
  80. 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, ..
  81. ncbi Relationship between UV-induced mutant p53 patches and skin tumours, analysed by mutation spectra and by induction kinetics in various DNA-repair-deficient mice
    Heggert Rebel
    Department of Dermatology, Leiden University Medical Centre, Sylvius Laboratory, Leiden, The Netherlands
    Carcinogenesis 26:2123-30. 2005
    ..e. xeroderma pigmentosum A (Xpa), Xpc and Cockayne syndrome B (Csb) and wild-type mice...
  82. ncbi Effect of cell confluence on ultraviolet light apoptotic responses in DNA repair deficient cells
    Helotonio Carvalho
    Departamento de Microbiologia, , , Av. Prof. Lineu Prestes, 1374, , 2, 05508-900 Sao Paulo, SP, Brazil
    Mutat Res 544:159-66. 2003
    ..In addition, they argue for the use of confluent primary cells in studies of induction of apoptosis by UV, a condition close to skin cells in vivo...
  83. ncbi Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients
    Steffen Emmert
    Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892, USA
    J Invest Dermatol 118:972-82. 2002
    ..An Israeli-Palestinian girl (XP96TA) had severe abnormalities suggestive of the xeroderma pigmentosum/Cockayne syndrome complex including sun sensitivity, neurologic and developmental impairment, and death by age 6 y...
  84. ncbi Rodent complementation group 8 (ERCC8) corresponds to Cockayne syndrome complementation group A
    T Itoh
    Department of Cell Genetics, Kumamoto University School of Medicine, Japan
    Mutat Res 362:167-74. 1996
    ..These kinetics resembled those of Cockayne syndrome (CS) cells...
  85. ncbi XPD helicase structures and activities: insights into the cancer and aging phenotypes from XPD mutations
    Li Fan
    Department of Molecular Biology, Skaggs Institute of Chemical Biology, The Scripps Research Institute, La Jolla, CA 92037, USA
    Cell 133:789-800. 2008
    ..complex TFIIH, cause three distinct phenotypes: cancer-prone xeroderma pigmentosum (XP), or aging disorders Cockayne syndrome (CS), and trichothiodystrophy (TTD)...
  86. ncbi The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases
    A R Lehmann
    MRC Cell Mutation Unit, University of Sussex, Falmer, Brighton BN1 9RR, UK
    Genes Dev 15:15-23. 2001
  87. ncbi Transcription-coupled and global genome repair differentially influence UV-B-induced acute skin effects and systemic immunosuppression
    J Garssen
    Laboratory for Pathology and Immunobiology and Laboratory of Health Effects Research, National Institute of Public Health and the Environment, Bilthoven, The Netherlands
    J Immunol 164:6199-205. 2000
    ....
  88. 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...
  89. ncbi Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition
    J de Boer
    MGC Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
    Cancer Res 59:3489-94. 1999
    ..These findings have important implications for the etiology of the human disorder and for the impact of NER on carcinogenesis...
  90. ncbi Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity
    E Botta
    Istituto di Genetica Biochimica ed Evoluzionistica CNR, Pavia, Italy
    Am J Hum Genet 63:1036-48. 1998
    ..group D is a heterogeneous group, containing patients with XP alone, rare cases with both XP and Cockayne syndrome, and patients with trichothiodystrophy (TTD)...
  91. ncbi 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...
  92. ncbi 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...
  93. ncbi 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...
  94. ncbi RAD26, the functional S. cerevisiae homolog of the Cockayne syndrome B gene ERCC6
    A J van Gool
    MGC Department of Cell Biology and Genetics, Erasmus University Rotterdam, The Netherlands
    EMBO J 13:5361-9. 1994
    ..A defect in TCR is responsible for the rare hereditary disorder Cockayne syndrome (CS)...
  95. ncbi Sequence analysis of the ERCC2 gene regions in human, mouse, and hamster reveals three linked genes
    J E Lamerdin
    Human Genome Center, Lawrence Livermore National Laboratory, Livermore, California, 94550, USA
    Genomics 34:399-409. 1996
    ..namely the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. We report the comparative analysis of 91.6 kb of new sequence including 54...
  96. 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...
  97. ncbi [Cross-talk between DNA repair and transcription: molecular mechanism and disorders]
    Shinsuke Ito
    Tanpakushitsu Kakusan Koso 52:1823-31. 2007
  98. ncbi 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...
  99. ncbi Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy
    J M Graham
    Medical Genetics Birth Defects Center, Cedars Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA 90048, USA
    Am J Hum Genet 69:291-300. 2001
    ..b>Cockayne syndrome (CS) is a recessively inherited neurodegenerative disorder characterized by low to normal birth weight, ..
  100. ncbi Factors influencing the removal of thymine glycol from DNA in gamma-irradiated human cells
    M Weinfeld
    Experimental Oncology Cross Cancer Institute, Edmonton, Alberta T6G 1Z2, Canada
    Prog Nucleic Acid Res Mol Biol 68:139-49. 2001
    ..Similar results were seen with a Cockayne syndrome B (CSB) cell line...
  101. ncbi Clustered sites of DNA repair synthesis during early nucleotide excision repair in ultraviolet light-irradiated quiescent human fibroblasts
    Maria Svetlova
    Laboratory of Chromosome Stability, Institute of Cytology, Russian Academy of Sciences, St. Petersburg, Russia
    Exp Cell Res 276:284-95. 2002
    ..The DRS foci are attenuated in normal cells treated with alpha-amanitin or in Cockayne syndrome (CS) cells, which are specifically deficient in the pathway of transcription-coupled repair (TCR)...

Research Grants81

  1. Mechanisms for Transcription-Coupled Repair in Human Cells
    PRISCILLA COOPER; Fiscal Year: 2009
    ..that inactivate these non-enzymatic functions result in the profound developmental and neurological disorder Cockayne syndrome (CS)...
  2. 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)...
  3. RNA Polymerase Transcription Past DNA Adducts
    David A Scicchitano; Fiscal Year: 2011
    ..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 ..
  4. RNA Polymerase Transcription Past DNA Adducts
    David A Scicchitano; Fiscal Year: 2010
    ..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 ..
  5. TRANSCRIPTION COUPLED REPAIR IN EUKARYOTIC CELLS
    STEVEN LEADON; Fiscal Year: 1999
    ..We find that genes defective in Cockayne syndrome (CS), xeroderma pigmentosum (XP) group G patients that also clinically exhibit CS (XP/CS complex), and human ..
  6. 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...
  7. 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...
  8. Transcription-coupled DNA repair in yeast
    Satya Prakash; Fiscal Year: 2007
    ..Mutations in the human counterparts of yeast genes being studied here can cause Cockayne syndrome (CS); the proposed studies in yeast should yield a better understanding of the underlying basis of the ..
  9. ELASTIN AND COLLAGEN IN THE AGING PROCESS
    JEFFREY DAVIDSON; Fiscal Year: 1993
    ..cellular behavior of a set of segmental aging syndromes, Hutchinson-Gilford progeria, Werner's syndrome, and Cockayne syndrome, each of which show unusual responses to the cytokines, TGF-beta and bFGF, in terms of their expression of ..
  10. Mechanisms for Transcription-Coupled Repair in Human Cells
    PRISCILLA COOPER; Fiscal Year: 2007
    ..that inactivate these non-enzymatic functions result in the profound developmental and neurological disorder Cockayne syndrome (CS)...
  11. 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),..
  12. 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 ..
  13. Oxidative DNA damage processing; role in human pathology and aging
    PHILIP COURTLAND HANAWALT; Fiscal Year: 2010
    ..The TCR-deficient diseases, Cockayne syndrome (CS) and UV-sensitive syndrome (UVSS), present indistinguishable biochemical responses to UV;UVSS patients ..
  14. Aging and the unstable epigenome
    Gerd P Pfeifer; Fiscal Year: 2010
    ..In addition, we will analyze these marks in Cockayne syndrome cells, a premature aging syndrome...
  15. MECHANISMS FOR REPAIR OF RADIATION DAMAGE IN HUMAN CELLS
    PRISCILLA COOPER; Fiscal Year: 2000
    ..critical active genes contributes both to cellular end points and to the profound clinical abnormalities of Cockayne syndrome (CS)...
  16. 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...
  17. Structural Biology of XPB and XPD Helicases
    John A Tainer; Fiscal Year: 2010
    ..phenotypes reflecting increased cancers or increased cell death: xeroderma pigmentosum (XP), XP- linked Cockayne syndrome (CS), and trichothiodystrophy (TTD)...
  18. Structural Biology of XPB and XPD Helicases
    John Tainer; Fiscal Year: 2007
    ..phenotypes reflecting increased cancers or increased cell death: xeroderma pigmentosum (XP), XP- linked Cockayne syndrome (CS), and trichothiodystrophy (TTD)...
  19. Molecular Mechanisms of Nitroarene Toxicity
    CARLOS RAUL DE LOS SANTOS; Fiscal Year: 2010
    ..Xeroderma Pigmentosum and Cockayne syndrome, two genetic diseases caused by NER deficiencies, are flagrant examples of the damaging consequences that ..
  20. Molecular Mechanisms of Nitroarene Toxicity
    CARLOS RAUL DE LOS SANTOS; Fiscal Year: 2011
    ..Xeroderma Pigmentosum and Cockayne syndrome, two genetic diseases caused by NER deficiencies, are flagrant examples of the damaging consequences that ..
  21. 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...
  22. Repair of UV irradiated DNA: excision genes of yeast
    Satya Prakash; Fiscal Year: 2007
    ..Defects in NER in humans cause the cancer-prone syndrome xeroderma pigmentosum and cells from patients with Cockayne syndrome, who suffer from severe growth and neurological problems, are defective in the repair of the transcribed DNA ..
  23. MECHANISTIC PROBLEMS IN EUKARYOTIC GENE REGULATION
    Jonathan Widom; Fiscal Year: 2007
    ..of human developmental diseases and cancers, including: Williams syndrome, Schimke immunoosseous dysplasia, Cockayne syndrome, X-linked a thalassaemia, mental retardation, malignant rhabdoid tumors, chronic myeloid leukemia, and ..
  24. MOLECULAR DISSECTION OF YEAST NUCLEOTIDE EXCISION REPAIR
    Zhigang Wang; Fiscal Year: 2001
    ..Defects in this repair pathway also lead to complex human hereditary diseases such as xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy...
  25. MECHANISTIC PROBLEMS IN EUKARYOTIC GENE REGULATION
    Jonathan Widom; Fiscal Year: 2009
    ..of human developmental diseases and cancers, including: Williams syndrome, Schimke immunoosseous dysplasia, Cockayne syndrome, X-linked a thalassaemia, mental retardation, malignant rhabdoid tumors, chronic myeloid leukemia, and ..
  26. MECHANISTIC PROBLEMS IN EUKARYOTIC GENE REGULATION
    Jonathan Widom; Fiscal Year: 2010
    ..of human developmental diseases and cancers, including: Williams syndrome, Schimke immunoosseous dysplasia, Cockayne syndrome, X-linked 1 thalassaemia, mental retardation, malignant rhabdoid tumors, chronic myeloid leukemia, and ..
  27. 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...
  28. MECHANISMS FOR REPAIR OF RADIATION DAMAGE IN HUMAN CELLS
    PRISCILLA COOPER; Fiscal Year: 2005
    ..TCR requires the Cockayne syndrome group B (CSB) protein, the xeroderma pigmentosum group G (XPG) protein and also the XPB and XPD proteins...
  29. 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 ..
  30. GENOMIC PLASTICITY IN THE HUMAN U2 SNRNA GENE CLUSTER
    Alan Weiner; Fiscal Year: 2002
    ..To follow up their observation that Cockayne syndrome complementation group B (CSB) induces fragility in the same regions they will determine which portions of ..
  31. Basis for Distinct Functions of ATP-Dependent Chromatin Remodeling Complexes
    Hua ying Fan; Fiscal Year: 2009
    ..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 ..
  32. Basis for Distinct Functions of ATP-Dependent Chromatin Remodeling Complexes
    Hua ying Fan; Fiscal Year: 2010
    ..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 ..
  33. 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)...
  34. 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...