Original Article
Subject Categories: Genetics
Journal of Investigative Dermatology (2005) 125, 244–246; doi:10.1111/j.0022-202X.2005.23783.x
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† and Chikako Nishigori*
- *Department of Dermatology, Kobe University Graduate School of Medicine, Kobe, Japan
- †Department of Dermatology, Kyoto University Graduate School of Medicine, Kobe, Japan
Correspondence: Chikako Nishigori, Division of Dermatology, Clinical Molecular Medicine, Graduate School of Medicine, Kobe University, 7-5-1, Kusunoki-cho, Chuou-ku, Kobe 650-0017, Japan Email: chikako@med.kobe-u.ac.jp
Received 11 January 2005; Revised 3 March 2005; Accepted 4 March 2005.
Abstract
Most Japanese patients with xeroderma pigmentosum group A (XPA) have the homozygous intron 3 splicing mutations (AlwNI mutation). Here, we report a Japanese XPA patient, XP79KO, a compound heterozygote with a newly identified T to G transversion at splice donor site in intron 1 in one allele, and with the AlwNI mutation in another allele in the XPA gene. The mutation in intron 1 creates two new abnormal splice sites that resulted in two types of aberrant mRNA. These abnormal splicings cause frameshifts that make stop codons downstream. No XPA protein was detected in XP79KO fibroblasts.
Keywords:
group A xeroderma pigmentosum, Japanese, intron 1, splicing mutation analysis
Abbreviations:
UDS, unscheduled DNA synthesis; UV, ultraviolet; XPA, xeroderma pigmentosum group A
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