PMID: 8596539Feb 15, 1996Paper

Aberrant splicing and truncated-protein expression due to a newly identified XPA gene mutation

Mutation Research
M SatoH Takebe

Abstract

A group A xeroderma pigmentosum (XPA) patient, XP2NI, is a compound heterozygote with a newly identified G to C transversion at the last nucleotide in exon 5 in one chromosome, and with the known splicing mutation in intron 3 in another chromosome in the XPA gene. XP2NI had mild skin symptoms and the cells were slightly less sensitive to UV radiation than the cells of typical severe XPA patients who have the splicing mutation in intron 3 homozygously. Reverse transcriptase (RT)-PCR and sequencing of the PCR products revealed that the mutation in exon 5 resulted in producing three types of aberrant mRNA, lacking 7 nucleotides at the end of exon 5, lacking entire exon 5, and lacking exons 3, 4 and 5. A significant amount of a truncated type of protein was produced in XP2NI cells, and the size of the protein indicated that it should have been translated from the mRNA, lacking the 7 nucleotides and retained one of the zinc-finger domains required for the DNA repair activity. The clinical mildness of XP2NI may be due to the residual DNA repair activity of the truncated XPA protein, while no XPA protein was detected in the XPA cells with the homozygous intron 3 splicing mutation.

References

Mar 1, 1992·Mutation Research·I SatokataY Okada
Mar 25, 1992·Nucleic Acids Research·H SteingrimsdottirA R Lehmann
Dec 1, 1990·Proceedings of the National Academy of Sciences of the United States of America·I SatokataY Okada
Jul 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·K TanakaY Okada

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Citations

Jun 25, 2010·The Journal of Investigative Dermatology·Yoshito TakahashiShinichi Moriwaki
Sep 27, 2014·The British Journal of Dermatology·Z SunZ Yao
Jun 2, 2016·DNA Repair·Norie SugitaniWalter J Chazin
Aug 16, 2005·The Journal of Investigative Dermatology·Miki TaniokaChikako Nishigori
Jun 16, 2004·International Journal of Cancer. Journal International Du Cancer·Yasuhiro MatsumuraYoshiki Miyachi
Dec 20, 2018·Photochemistry and Photobiology·Chikako NishigoriTakehiro Ueda

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