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. Groisman R, Kuraoka I, Chevallier O, Gaye N, Magnaldo T, Tanaka K, et al. CSA-dependent degradation of CSB by the ubiquitin-proteasome pathway establishes a link between complementation factors of the Cockayne syndrome. Genes Dev. 2006;20:1429-34 pubmed
    Mutations in the CSA or CSB complementation genes cause the Cockayne syndrome, a severe genetic disorder that results in patients' death in early adulthood...
  2. Brosh R, Balajee A, Selzer R, Sunesen M, Proietti De Santis L, Bohr V. The ATPase domain but not the acidic region of Cockayne syndrome group B gene product is essential for DNA repair. Mol Biol Cell. 1999;10:3583-94 pubmed
    b>Cockayne syndrome (CS) is a human genetic disorder characterized by UV sensitivity, developmental abnormalities, and premature aging...
  3. Henning K, Li L, Iyer N, McDaniel L, Reagan M, Legerski R, et al. The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. Cell. 1995;82:555-64 pubmed
    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...
  4. Tan W, Baris H, Robson C, Kimonis V. Cockayne syndrome: the developing phenotype. Am J Med Genet A. 2005;135:214-6 pubmed
    b>Cockayne syndrome is a rare autosomal recessive condition comprising microcephaly, "cachectic dwarfism" and progressive neurological degeneration...
  5. Theron T, Fousteri M, Volker M, Harries L, Botta E, Stefanini M, et al. Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndrome. Mol Cell Biol. 2005;25:8368-78 pubmed
    ..xeroderma pigmentosum (XP), trichothiodystrophy, and, less frequently, the combined phenotype of XP and Cockayne syndrome (XP-D/CS)...
  6. Laposa R, Huang E, Cleaver J. Increased apoptosis, p53 up-regulation, and cerebellar neuronal degeneration in repair-deficient Cockayne syndrome mice. Proc Natl Acad Sci U S A. 2007;104:1389-94 pubmed
    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...
  7. Mallery D, Tanganelli B, Colella S, Steingrimsdottir H, van Gool A, Troelstra C, et al. Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. Am J Hum Genet. 1998;62:77-85 pubmed
    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...
  8. Lee S, Yu S, Prakash L, Prakash S. Requirement of yeast RAD2, a homolog of human XPG gene, for efficient RNA polymerase II transcription. implications for Cockayne syndrome. Cell. 2002;109:823-34 pubmed
    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...
  9. Cleaver J. Cancer in xeroderma pigmentosum and related disorders of DNA repair. Nat Rev Cancer. 2005;5:564-73 pubmed
    ..of xeroderma pigmentosum (XP), and neurodegeneration and developmental disorders are the hallmarks of Cockayne syndrome and trichothiodystrophy...

More Information

Publications89

  1. Bhatia P, Verhage R, Brouwer J, Friedberg E. Molecular cloning and characterization of Saccharomyces cerevisiae RAD28, the yeast homolog of the human Cockayne syndrome A (CSA) gene. J Bacteriol. 1996;178:5977-88 pubmed
    b>Cockayne syndrome patients exhibit severe developmental and neurological abnormalities...
  2. Laugel V, Dalloz C, Stary A, Cormier Daire V, Desguerre I, Renouil M, et al. Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome. Eur J Hum Genet. 2008;16:320-7 pubmed publisher
    b>Cockayne syndrome is an autosomal recessive neurodegenerative disorder characterized by a specific defect in the repair of UV-induced DNA lesions...
  3. Liu F, Yu Z, Sui J, Bai B, Zhou P. siRNA-mediated silencing of Cockayne Cyndrome group B gene potentiates radiation-induced apoptosis and antiproliferative effect in HeLa cells. Chin Med J (Engl). 2006;119:731-9 pubmed
    b>Cockayne syndrome (CS) is a rare human genetic disorder characterized by increased UV sensitivity, developmental abnormalities and premature aging. Cells isolated from individuals with CS have a defect in transcription-coupled DNA repair...
  4. Scheibye Knudsen M, Croteau D, Bohr V. Mitochondrial deficiency in Cockayne syndrome. Mech Ageing Dev. 2013;134:275-83 pubmed publisher
    b>Cockayne syndrome is a rare inherited disorder characterized by accelerated aging, cachectic dwarfism and many other features. Recent work has implicated mitochondrial dysfunction in the pathogenesis of this disease...
  5. Kuraoka I, Ito S, Wada T, Hayashida M, Lee L, Saijo M, et al. Isolation of XAB2 complex involved in pre-mRNA splicing, transcription, and transcription-coupled repair. J Biol Chem. 2008;283:940-50 pubmed
    ..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 ..
  6. Velez Cruz R, Egly J. Cockayne syndrome group B (CSB) protein: at the crossroads of transcriptional networks. Mech Ageing Dev. 2013;134:234-42 pubmed publisher
    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 ..
  7. SCHARER O. XPG: its products and biological roles. Adv Exp Med Biol. 2008;637:83-92 pubmed
    ..of XP-G patient is much more severely affected, displaying combined symptoms of xeroderma pigmentosum and Cockayne syndrome, referred to as XP/CS complex...
  8. van der Horst G, van Steeg H, Berg R, van Gool A, de Wit J, Weeda G, et al. Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition. Cell. 1997;89:425-35 pubmed
    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...
  9. Khayat M, Hardouf H, Zlotogora J, Shalev S. High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel. Am J Med Genet A. 2010;152A:3091-4 pubmed publisher
    ..b>Cockayne syndrome (CS) is a rare autosomal recessive disorder common in Christian Arabs due to a p.Tyr322X mutation...
  10. Velez Cruz R, Zadorin A, Coin F, Egly J. Sirt1 suppresses RNA synthesis after UV irradiation in combined xeroderma pigmentosum group D/Cockayne syndrome (XP-D/CS) cells. Proc Natl Acad Sci U S A. 2013;110:E212-20 pubmed publisher
    ..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. Bertola D, Cao H, Albano L, Oliveira D, Kok F, Marques Dias M, et al. Cockayne syndrome type A: novel mutations in eight typical patients. J Hum Genet. 2006;51:701-5 pubmed
    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...
  12. Kraemer K, Patronas N, Schiffmann R, Brooks B, Tamura D, DiGiovanna J. Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. Neuroscience. 2007;145:1388-96 pubmed
    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...
  13. Hoeijmakers J. DNA damage, aging, and cancer. N Engl J Med. 2009;361:1475-85 pubmed publisher
  14. Nardo T, Oneda R, Spivak G, Vaz B, Mortier L, Thomas P, et al. A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage. Proc Natl Acad Sci U S A. 2009;106:6209-14 pubmed publisher
    ..b>Cockayne syndrome (CS) is another genetic disorder with sun sensitivity and defective TC-NER, caused by mutations in the CSA ..
  15. Ito S, Kuraoka I, Chymkowitch P, Compe E, Takedachi A, Ishigami C, et al. XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients. Mol Cell. 2007;26:231-43 pubmed
    ..human XPG gene give rise to an inherited photosensitive disorder, xeroderma pigmentosum (XP) associated with Cockayne syndrome (XP-G/CS)...
  16. Lee M, Ahn B, Choi I, Koo H. The gene expression and deficiency phenotypes of Cockayne syndrome B protein in Caenorhabditis elegans. FEBS Lett. 2002;522:47-51 pubmed
    The Caenorhabditis elegans Cockayne syndrome B protein homologue is encoded by 10 exons of the predicted open reading frame F53H4.1. The gene is expressed in germ cells and all somatic cells of the embryonic to adult stage...
  17. Lee S, Yu S, Prakash L, Prakash S. Requirement for yeast RAD26, a homolog of the human CSB gene, in elongation by RNA polymerase II. Mol Cell Biol. 2001;21:8651-6 pubmed
    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...
  18. Tantin D. 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. J Biol Chem. 1998;273:27794-9 pubmed
    ..Genetic studies indicate that this transcription-coupled repair is dependent on the Cockayne syndrome group A and B proteins, as well as TFIIH subunits...
  19. Wijnhoven S, Kool H, van Oostrom C, Beems R, Mullenders L, van Zeeland A, et al. The relationship between benzo[a]pyrene-induced mutagenesis and carcinogenesis in repair-deficient Cockayne syndrome group B mice. Cancer Res. 2000;60:5681-7 pubmed
    b>Cockayne syndrome (CS) patients are deficient in the transcription coupled repair (TCR) subpathway of nucleotide excision repair (NER) but in contrast to xeroderma pigmentosum patients, who have a defect in the global genome repair ..
  20. Kamenisch Y, Fousteri M, Knoch J, von Thaler A, Fehrenbacher B, Kato H, et al. Proteins of nucleotide and base excision repair pathways interact in mitochondria to protect from loss of subcutaneous fat, a hallmark of aging. J Exp Med. 2010;207:379-90 pubmed publisher
    ..may lead to tumors in xeroderma pigmentosum (XP) or to premature aging with loss of subcutaneous fat in Cockayne syndrome (CS)...
  21. Nouspikel T. Nucleotide excision repair and neurological diseases. DNA Repair (Amst). 2008;7:1155-67 pubmed publisher
    ..These are mainly observed in two clinical entities, Xeroderma pigmentosum (XP) and Cockayne syndrome (CS), and we shall try to understand why and how a deficit in DNA repair may result in neurological ..
  22. Kirkali G, de Souza Pinto N, Jaruga P, Bohr V, Dizdaroglu M. Accumulation of (5'S)-8,5'-cyclo-2'-deoxyadenosine in organs of Cockayne syndrome complementation group B gene knockout mice. DNA Repair (Amst). 2009;8:274-8 pubmed publisher
    b>Cockayne syndrome (CS) is a human genetic disorder characterized by sensitivity to UV radiation, neurodegeneration, premature aging among other phenotypes...
  23. Dianov G, Bischoff C, Sunesen M, Bohr V. Repair of 8-oxoguanine in DNA is deficient in Cockayne syndrome group B cells. Nucleic Acids Res. 1999;27:1365-8 pubmed
    The incision of the 8-oxoguanine in DNA by normal and Cockayne Syndrome (CS) cell extracts has been investigated...
  24. Kleijer W, Laugel V, Berneburg M, Nardo T, Fawcett H, Gratchev A, et al. Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. DNA Repair (Amst). 2008;7:744-50 pubmed publisher
    ..in western Europe from the early seventies for xeroderma pigmentosum (XP) and from the mid-eighties for Cockayne syndrome (CS) and trichothiodystrophy (TTD)...
  25. Cleaver J, Bezrookove V, Revet I, Huang E. Conceptual developments in the causes of Cockayne syndrome. Mech Ageing Dev. 2013;134:284-90 pubmed publisher
    b>Cockayne syndrome is an autosomal recessive disease that covers a wide range of symptoms, from mild photosensitivity to severe neonatal lethal disorder...
  26. Lindenbaum Y, Dickson D, Rosenbaum P, Kraemer K, Robbins I, Rapin I. Xeroderma pigmentosum/cockayne syndrome complex: first neuropathological study and review of eight other cases. Eur J Paediatr Neurol. 2001;5:225-42 pubmed
    This is the first detailed description of the neuropathology of a patient with xeroderma pigmentosum/Cockayne syndrome complex (XP/CS)...
  27. Stevnsner T, Nyaga S, de Souza Pinto N, van der Horst G, Gorgels T, Hogue B, et al. Mitochondrial repair of 8-oxoguanine is deficient in Cockayne syndrome group B. Oncogene. 2002;21:8675-82 pubmed
    ..b>Cockayne syndrome (CS) is a segmental premature aging syndrome in humans that has two complementation groups, CSA and CSB...
  28. Hamamy H, Daas H, Shegem N, Al Hadidy A, Ajlouni K. Cockayne syndrome in 2 siblings. Saudi Med J. 2005;26:875-9 pubmed
    b>Cockayne syndrome is a rare autosomal recessive condition characterized by growth failure and multisystem progressive degeneration...
  29. Lebedev A, Scharffetter Kochanek K, Iben S. Truncated Cockayne syndrome B protein represses elongation by RNA polymerase I. J Mol Biol. 2008;382:266-74 pubmed publisher
    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...
  30. Kleppa L, Kanavin Ø, Klungland A, Strømme P. A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome. Neuroscience. 2007;145:1397-406 pubmed
    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...
  31. Pastoriza Gallego M, Armier J, Sarasin A. Transcription through 8-oxoguanine in DNA repair-proficient and Csb(-)/Ogg1(-) DNA repair-deficient mouse embryonic fibroblasts is dependent upon promoter strength and sequence context. Mutagenesis. 2007;22:343-51 pubmed
    Cells from Cockayne syndrome patients are characterized by a deficiency in transcription-coupled repair (TCR) of UV-induced lesions...
  32. Navarro C, Cau P, Levy N. Molecular bases of progeroid syndromes. Hum Mol Genet. 2006;15 Spec No 2:R151-61 pubmed
  33. Murai M, Enokido Y, Inamura N, Yoshino M, Nakatsu Y, van der Horst G, et al. Early postnatal ataxia and abnormal cerebellar development in mice lacking Xeroderma pigmentosum Group A and Cockayne syndrome Group B DNA repair genes. Proc Natl Acad Sci U S A. 2001;98:13379-84 pubmed
    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 ..
  34. Falik Zaccai T, Laskar M, Kfir N, Nasser W, Slor H, Khayat M. Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6. Am J Med Genet A. 2008;146A:1423-9 pubmed publisher
    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...
  35. Frontini M, Proietti de Santis L. Interaction between the Cockayne syndrome B and p53 proteins: implications for aging. Aging (Albany NY). 2012;4:89-97 pubmed
    ..CSB is very often found mutated in Cockayne syndrome, a segmental progeroid genetic disease characterized by organ degeneration and growth failure...
  36. Batenburg N, Mitchell T, Leach D, Rainbow A, Zhu X. Cockayne Syndrome group B protein interacts with TRF2 and regulates telomere length and stability. Nucleic Acids Res. 2012;40:9661-74 pubmed publisher
    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. Selzer R, Nyaga S, Tuo J, May A, Muftuoglu M, Christiansen M, et al. 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. Nucleic Acids Res. 2002;30:782-93 pubmed
    b>Cockayne syndrome (CS) is a rare inherited human genetic disorder characterized by UV sensitivity, developmental abnormalities and premature aging...
  38. Sarker A, Tsutakawa S, Kostek S, Ng C, Shin D, Peris M, et al. Recognition of RNA polymerase II and transcription bubbles by XPG, CSB, and TFIIH: insights for transcription-coupled repair and Cockayne Syndrome. Mol Cell. 2005;20:187-98 pubmed
    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...
  39. Selby C, Sancar A. Cockayne syndrome group B protein enhances elongation by RNA polymerase II. Proc Natl Acad Sci U S A. 1997;94:11205-9 pubmed
    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...
  40. van Gool A, Citterio E, Rademakers S, van Os R, Vermeulen W, Constantinou A, et al. The Cockayne syndrome B protein, involved in transcription-coupled DNA repair, resides in an RNA polymerase II-containing complex. EMBO J. 1997;16:5955-65 pubmed
    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 ..
  41. Newman J, Bailey A, Fan H, Pavelitz T, Weiner A. An abundant evolutionarily conserved CSB-PiggyBac fusion protein expressed in Cockayne syndrome. PLoS Genet. 2008;4:e1000031 pubmed publisher
    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...
  42. Hayashi M, Miwa Saito N, Tanuma N, Kubota M. Brain vascular changes in Cockayne syndrome. Neuropathology. 2012;32:113-7 pubmed publisher
    b>Cockayne syndrome (CS) and xeroderma pigmentosum (XP) are caused by deficient nucleotide excision repair. CS is characterized by cachectic dwarfism, mental disability, microcephaly and progeria features...
  43. Horibata K, Iwamoto Y, Kuraoka I, Jaspers N, Kurimasa A, Oshimura M, et al. Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome. Proc Natl Acad Sci U S A. 2004;101:15410-5 pubmed
    ..not belong to any complementation groups of known photosensitive disorders such as xeroderma pigmentosum and Cockayne syndrome (CS)...
  44. Shiomi N, Kito S, Oyama M, Matsunaga T, Harada Y, Ikawa M, et al. 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. Mol Cell Biol. 2004;24:3712-9 pubmed
    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...
  45. Laugel V, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent M, et al. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. Hum Mutat. 2010;31:113-26 pubmed publisher
    b>Cockayne syndrome is an autosomal recessive multisystem disorder characterized principally by neurological and sensory impairment, cachectic dwarfism, and photosensitivity...
  46. Broughton B, Thompson A, Harcourt S, Vermeulen W, Hoeijmakers J, Botta E, et al. 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. Am J Hum Genet. 1995;56:167-74 pubmed
    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...
  47. Arenas Sordo M, Hernández Zamora E, Montoya Pérez L, Aldape Barrios B. Cockayne's syndrome: a case report. Literature review. Med Oral Patol Oral Cir Bucal. 2006;11:E236-8 pubmed
    ..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...
  48. Proietti de Santis L, Drané P, Egly J. Cockayne syndrome B protein regulates the transcriptional program after UV irradiation. EMBO J. 2006;25:1915-23 pubmed
    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...
  49. Spivak G, Hanawalt P. Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts. DNA Repair (Amst). 2006;5:13-22 pubmed
    ..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...
  50. Svejstrup J. Mechanisms of transcription-coupled DNA repair. Nat Rev Mol Cell Biol. 2002;3:21-9 pubmed
    ..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...
  51. Pascucci B, Lemma T, Iorio E, Giovannini S, Vaz B, Iavarone I, et al. An altered redox balance mediates the hypersensitivity of Cockayne syndrome primary fibroblasts to oxidative stress. Aging Cell. 2012;11:520-9 pubmed publisher
    b>Cockayne syndrome (CS) is a rare hereditary multisystem disease characterized by neurological and development impairment, and premature aging...
  52. Oh K, Khan S, Jaspers N, Raams A, Ueda T, Lehmann A, et al. Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome. Hum Mutat. 2006;27:1092-103 pubmed
    ..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...
  53. Adachi M, Kawanami T, Ohshima F, Hosoya T. MR findings of cerebral white matter in Cockayne syndrome. Magn Reson Med Sci. 2006;5:41-5 pubmed
    The characteristic magnetic resonance (MR) findings of Cockayne syndrome have been reported; however, the corresponding characteristics on diffusion-weighted and fluid-attenuated inversion recovery (FLAIR) imaging are yet to be ..
  54. Christiansen M, Thorslund T, Jochimsen B, Bohr V, Stevnsner T. The Cockayne syndrome group B protein is a functional dimer. FEBS J. 2005;272:4306-14 pubmed
    b>Cockayne syndrome (CS) is a rare inherited human genetic disorder characterized by developmental abnormalities, UV sensitivity, and premature aging...
  55. Anindya R, Mari P, Kristensen U, Kool H, Giglia Mari G, Mullenders L, et al. A ubiquitin-binding domain in Cockayne syndrome B required for transcription-coupled nucleotide excision repair. Mol Cell. 2010;38:637-48 pubmed publisher
    ..Defective TCR in humans is associated with Cockayne syndrome (CS), typically caused by defects in either CSA or CSB...
  56. Sugita K, Suzuki N, Higuchi Y, Kita K, Suzuki Y, Lehmann A. Enhancement of XPG mRNA expression by human interferon-beta in Cockayne syndrome cells. Mutat Res. 1998;408:67-72 pubmed
    ..display, we have searched for genes expressed specially in human interferon (HuIFn)-beta-treated Cockayne syndrome (CS) fibroblast cells...
  57. Spivak G. The many faces of Cockayne syndrome. Proc Natl Acad Sci U S A. 2004;101:15273-4 pubmed
  58. Lake R, Basheer A, Fan H. Reciprocally regulated chromatin association of Cockayne syndrome protein B and p53 protein. J Biol Chem. 2011;286:34951-8 pubmed publisher
    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...
  59. Sunesen M, Selzer R, Brosh R, Balajee A, Stevnsner T, Bohr V. Molecular characterization of an acidic region deletion mutant of Cockayne syndrome group B protein. Nucleic Acids Res. 2000;28:3151-9 pubmed
    b>Cockayne syndrome (CS) is a human genetic disorder characterized by post-natal growth failure, neurological abnormalities and premature aging...
  60. Cleaver J. Photosensitivity syndrome brings to light a new transcription-coupled DNA repair cofactor. Nat Genet. 2012;44:477-8 pubmed publisher
  61. Spivak G, Itoh T, Matsunaga T, Nikaido O, Hanawalt P, Yamaizumi M. Ultraviolet-sensitive syndrome cells are defective in transcription-coupled repair of cyclobutane pyrimidine dimers. DNA Repair (Amst). 2002;1:629-43 pubmed
    ..hereditary DNA repair syndromes show that UV(S)S is distinct from all known xeroderma pigmentosum (XP) and Cockayne syndrome (CS) groups...
  62. Tornaletti S. DNA repair in mammalian cells: Transcription-coupled DNA repair: directing your effort where it's most needed. Cell Mol Life Sci. 2009;66:1010-20 pubmed publisher
    ..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)...
  63. van Hoffen A, Balajee A, Van Zeeland A, Mullenders L. Nucleotide excision repair and its interplay with transcription. Toxicology. 2003;193:79-90 pubmed
    ..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 ..
  64. Colella S, Nardo T, Botta E, Lehmann A, Stefanini M. Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum. Hum Mol Genet. 2000;9:1171-5 pubmed
    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...
  65. Kristensen U, Epanchintsev A, Rauschendorf M, Laugel V, Stevnsner T, Bohr V, et al. Regulatory interplay of Cockayne syndrome B ATPase and stress-response gene ATF3 following genotoxic stress. Proc Natl Acad Sci U S A. 2013;110:E2261-70 pubmed publisher
    b>Cockayne syndrome type B ATPase (CSB) belongs to the SwItch/Sucrose nonfermentable family...
  66. Yu A, Fan H, Liao D, Bailey A, Weiner A. Activation of p53 or loss of the Cockayne syndrome group B repair protein causes metaphase fragility of human U1, U2, and 5S genes. Mol Cell. 2000;5:801-10 pubmed
    ..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 ..
  67. Brace L, Vose S, Vargas D, Zhao S, Wang X, Mitchell J. Lifespan extension by dietary intervention in a mouse model of Cockayne syndrome uncouples early postnatal development from segmental progeria. Aging Cell. 2013;12:1144-7 pubmed publisher
    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...
  68. Vermeulen W, Fousteri M. Mammalian transcription-coupled excision repair. Cold Spring Harb Perspect Biol. 2013;5:a012625 pubmed publisher
    ..Defective TC-NER is causatively linked to Cockayne syndrome, a rare severe genetic disorder with multisystem abnormalities that results in patients' death in early ..
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    ..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...
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    The Cockayne syndrome is a rare autosomal recessive disease characterized by a general developmental delay, the unique face, and abnormal skin sensitivity to sunlight...
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    ..NER) factor TFIIH display the combined cancer and developmental-progeroid disorder xeroderma pigmentosum/Cockayne syndrome (XPCS)...
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    Mutations in the CSB gene cause Cockayne syndrome (CS), a DNA repair disorder characterized by UV sensitivity and severe physical and neurological impairment...
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    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...
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    b>Cockayne syndrome (CS) is a rare autosomal recessive disease, which shows diverse clinical symptoms such as photosensitivity, severe mental retardation and developmental defects...
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    ..This splicing defect, however, appears to be a naturally occurring low-frequency event that results from abnormal splicing that occurs between certain conserved non-consensus splicing signals within the human XPG gene...
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    b>Cockayne syndrome is a multi-systemic, autosomal recessive disease characterised by postnatal growth failure and progressive multi-organ dysfunction...
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    ..2007], this issue of Molecular Cell). This observation likely explains some of the clinical features of individuals with both defective DNA repair and development...
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    ..Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are hereditary disorders characterized by impaired DNA repair and neurodegeneration...