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Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype

A F Nichols¹, P Ong, S Linn

¹Division of Biochemistry and Molecular Biology, University of California, Berkeley, California 94720-3202, USA.

The Journal of Biological Chemistry

|October 4, 1996

Summary

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Mutations in the 48-kDa subunit gene cause loss of DNA binding activity in xeroderma pigmentosum group E (XP-E) cells. This finding clarifies the genetic basis of XP-E but requires further investigation.

Area of Science:

Molecular Biology
Genetics
DNA Repair

Background:

Xeroderma pigmentosum group E (XP-E) is characterized by a subset of patients lacking DNA damage-binding protein (DDB) activity.
DDB is a heterodimer composed of 127-kDa and 48-kDa subunits.

Purpose of the Study:

To identify the genetic mutations responsible for the absence of DDB activity in Ddb- XP-E cell strains.
To elucidate the role of the 48-kDa subunit in DDB function.

Main Methods:

DNA sequencing of the 48-kDa and 127-kDa subunit genes in XP-E cell strains.
Site-directed mutagenesis and gene expression studies in insect cells.

Main Results:

Single-base mutations were identified in the 48-kDa subunit gene in all three known Ddb- XP-E individuals.

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Specific mutations (K244E and R273H) were found, correlating with the loss of DDB activity.

Overexpression of the 48-kDa subunit (p48) enhanced DDB activity, particularly when co-expressed with the 127-kDa subunit (p127).

Conclusions:

The 48-kDa subunit (p48) is essential for DNA binding activity of the DDB complex.
The identified mutations in the p48 gene are the cause of DDB deficiency in these XP-E patients.
Further research is needed to fully define the genetic basis of XP group E.