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Biochemical heterogeneity in xeroderma pigmentosum complementation group E.

S Keeney1, H Wein, S Linn

  • 1Division of Biochemistry and Molecular Biology, University of California, Berkeley, CA 94720.

Mutation Research
|January 1, 1992
PubMed
Summary
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Most xeroderma pigmentosum complementation group E (XP-E) patients retain normal DNA-damage binding protein activity. This study found only a minority of XP-E patients lacked this specific UV-irradiated DNA binding activity.

Area of Science:

  • Molecular Biology
  • Genetics
  • Biochemistry

Background:

  • Xeroderma pigmentosum (XP) is a rare genetic disorder characterized by extreme sensitivity to sunlight.
  • XP is classified into complementation groups (A-G) based on the specific DNA repair defect.
  • XP-E cells from some patients show a deficiency in a protein that binds UV-irradiated DNA.

Purpose of the Study:

  • To investigate the prevalence of DNA-damage binding protein deficiency in a larger cohort of xeroderma pigmentosum complementation group E (XP-E) patients.
  • To characterize the properties of the DNA-damage binding protein in XP-E cells to identify potential structural alterations.

Main Methods:

  • Assessed UV-irradiated DNA binding activity in cell extracts from 12 unrelated XP-E patients.
  • Characterized the binding protein's thermal stability, ion-exchange chromatography behavior, and electrophoretic mobility of protein-DNA complexes.

Related Experiment Videos

  • Compared findings to normal control cell strains.

    • Main Results:

    • Nine of the twelve XP-E cell strains examined exhibited normal levels of DNA-damage binding protein activity.
    • The binding activity in the majority of XP-E strains was biochemically indistinguishable from normal controls.
    • A statistically significant association was found between XP-E and a deficiency in this binding protein in 3 out of 12 patients.

    Conclusions:

    • The deficiency in UV-irradiated DNA binding protein activity is not a universal characteristic of all xeroderma pigmentosum complementation group E patients.
    • The DNA-damage binding protein in XP-E patients, when present, appears structurally normal.
    • Further research is needed to clarify the precise role of this binding protein in the pathogenesis of XP-E.