A Novel XPA Gene Mutation and its Functional Analysis in a Japanese Patient with Xeroderma Pigmentosum Group A Miki Tanioka, Arief Budiyant, Takahiro.

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A Novel XPA Gene Mutation and its Functional Analysis in a Japanese Patient with Xeroderma Pigmentosum Group A Miki Tanioka, Arief Budiyant, Takahiro Ueda, Tohru Nagano, Masamitsu Ichihashi, Yoshiki Miyachi, Chikako Nishigori Journal of Investigative Dermatology Volume 125, Issue 2, Pages 244-246 (August 2005) DOI: 10.1111/j.0022-202X.2005.23783.x Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Point mutation in intron 1 in XP79KO causes abberant splicing, resulting in frameshift in the coding region and stop site downstream. (a) Sequence of the region around exon 1–intron boundary of XP79KO and a normal individual. T to G transversion in the second base of intron 1 in XP79KO is schematically shown (star). (b) RT-PCR products from xeroderma pigmentosum group A (XPA) mRNA in normal human and XP79KO. Kb ladder DNA was used as size markers. (c) Base sequences of the cloned cDNA corresponding to normal and XP79KO mRNAs with codon numbers (boxed). Underlined codons mean frameshift. Two arrowheads indicate abnormal splice sites. A part of exon 1 in normal sequence is not shown. (d) A scheme of the aberrant splicing of pre-mRNA from the AlwNI and intron 1 mutation alleles in the XPA gene in XP79KO cells. Journal of Investigative Dermatology 2005 125, 244-246DOI: (10.1111/j.0022-202X.2005.23783.x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 XPA protein was not detected in XP79KO. Western blot analysis of normal human, XP79KO and XP101KO cells with mouse monoclonal (BD Pharmingen, San Diego, California: left panel) and rabbit polyclonal (Santa Cruz Biotechnology, Santa Cruz, California: right panel) anti-human xeroderma pigmentosum group A (XPA) antibodies. Horseradish peroxidase-conjugated secondary antibodies were visualized using an enzyme chemiluminescence system. Two arrows show the two bands of human XPA protein. Background (non-specific bands) indicates that the amount of the loaded extract was approximately equal in the lanes. Journal of Investigative Dermatology 2005 125, 244-246DOI: (10.1111/j.0022-202X.2005.23783.x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions