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      Skewed X chromosome inactivation in blood cells of women with scleroderma

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      Author
      Özbalkan, Z.
      Baǧişlar, S.
      Kiraz, S.
      Akyerli, C. B.
      Özer H. T. E.
      Yavuz, Ş.
      Birlik, A. M.
      Çalgüneri, M.
      Özçelik, T.
      Date
      2005
      Source Title
      Arthritis and Rheumatism
      Print ISSN
      0004-3591
      Publisher
      John Wiley & Sons, Inc.
      Volume
      52
      Issue
      5
      Pages
      1564 - 1570
      Language
      English
      Type
      Article
      Item Usage Stats
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      120
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      Abstract
      Objective. Scleroderma (SSc) is an autoimmune disease of unknown etiology. The disease is 3-8 times more frequent in women than in men. The role of X chromosome inactivation (XCI) in the predisposition of women to autoimmunity has been questioned. Until now this has not been illustrated experimentally. This study was undertaken to test the hypothesis that disturbances in XCI mosaicism may be involved in the pathogenesis of the disease in female patients with SSc. Methods. Seventy female SSc patients and 160 female controls were analyzed for the androgen receptor locus by the Hpa II/polymerase chain reaction assay to assess XCI patterns in DNA extracted from peripheral blood cells. Furthermore, skin biopsy samples were obtained from 5 patients whose blood revealed an extremely skewed pattern of XCI, and the analysis repeated. Since microchimerism in SSc was reported, Y chromosome sequences were investigated in all samples. Results. Skewed XCI was observed in DNA from peripheral blood cells in 35 of 55 informative patients (64%), as compared with 10 of 124 informative controls (8%) (P < 0.0001). Extreme skewing was present in 27 of the patient group (49%), as compared with only 3 of the controls (2.4%) (P < 0.0001). However, XCI was random in all skin biopsy samples. The potential contribution of microchimerism to the random XCI pattern is highly unlikely based on the medical histories of the patients. Conclusion. Skewed XCI mosaicism may play a significant role in the pathogenesis of SSc.
      Keywords
      Androgen receptor
      Autoantigen
      Azathioprine
      Chloroquine
      Cyclophosphamide
      DNA
      Immunosuppressive agent
      Methotrexate
      Mycophenolic acid
      Penicillamine
      Adult
      Aged
      Article
      Autoimmune disease
      Blood cell
      Cheek mucosa
      Controlled study
      Disease predisposition
      DNA methylation
      Female
      Hair follicle
      Human
      Human tissue
      Immunosuppressive treatment
      Major clinical study
      Microchimerism
      Pathogenesis
      Polymerase chain reaction
      Pregnancy
      Priority journal
      Rheumatoid arthritis
      Scleroderma
      Sex chromosome mosaicism
      Skin biopsy
      Systemic lupus erythematosus
      Systemic sclerosis
      X chromosome inactivation
      Y chromosome
      Adult
      Chromosomes, Human, X
      Dosage Compensation, Genetic
      Female
      Humans
      Immunosuppressive Agents
      Middle Aged
      Scleroderma, Systemic
      Permalink
      http://hdl.handle.net/11693/24072
      Published Version (Please cite this version)
      http://dx.doi.org/10.1002/art.21026
      Collections
      • Department of Molecular Biology and Genetics 463
      • Institute of Materials Science and Nanotechnology (UNAM) 1904
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