Rare Diseases Symptoms Automatic Extraction

Werner syndrome protein positively regulates XRCC4-like factor transcription.

[werner syndrome]

XRCC4-like factor (XLF) is involved in non-homologous end joining-mediated repair of DNA double-strand breaks (DSBs). Mutations in the WRN gene results in the development of Werner syndrome (WS), a rare autosomal recessive disorder characterized by premature ageing and genome instability. In the present study, it was identified that XLF protein levels were lower in WRN-deficient fibroblasts, compared with normal fibroblasts. Depletion of WRN in HeLa cells led to a decrease of XLF mRNA and its promoter activity. Chromatin immunoprecipitation assays demonstrated that WRN was associated with the XLF promoter. Depletion of XLF in normal human fibroblasts increased the percentage of β-galactosidase (β-gal) staining-positive cells, indicating acceleration in cellular senescence. Taken together, the results suggest that XLF is a transcriptional target of WRN and may be involved in the regulation of cellular senescence.

Diseases presenting "positive cells" symptom

  • canavan disease
  • carcinoma of the gallbladder
  • coats disease
  • congenital diaphragmatic hernia
  • dedifferentiated liposarcoma
  • epidermolysis bullosa simplex
  • erythropoietic protoporphyria
  • esophageal adenocarcinoma
  • hodgkin lymphoma, classical
  • severe combined immunodeficiency
  • werner syndrome
  • x-linked adrenoleukodystrophy

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