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The luciferase reporter assay detected no functional difference between the two sequences. Unexpectedly, we found that the alternatively spliced form of XPA mRNA lacked a part of exon 1. Only the reading frame downstream of codon Met59 was preserved. The alternative mRNA is expressed in various human tissues. The analysis of the 5\u2019cDNA ends showed similar transcription start sites for the two forms. The in vitro expression of the alternative XPA labelled with the red fluorescent protein (mRFP) showed a lack of preferential nuclear accumulation of the XPA isoform. The biological role of the alternative XPA mRNA form remains to be elucidated.<\/jats:p>","DOI":"10.2478\/s11658-010-0032-2","type":"journal-article","created":{"date-parts":[[2010,9,23]],"date-time":"2010-09-23T07:24:57Z","timestamp":1285226697000},"source":"Crossref","is-referenced-by-count":4,"title":["A functional analysis of G23A polymorphism and the alternative splicing in the expression of the XPA gene"],"prefix":"10.2478","volume":"15","author":[{"given":"Dorota","family":"Butkiewicz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ma\u0142gorzata","family":"Krze\u015bniak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rasa","family":"Vaitiekunaite","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo\u017cena","family":"Sikora","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elise","family":"Bowman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Curtis","family":"Harris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marek","family":"Rusin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref331","doi-asserted-by":"publisher","first-page":"515","DOI":"10.1016\/j.tibs.2005.07.001","article-title":"Structural and functional diversity generated by alternative mRNA splicing http dx org","volume":"34","author":"Stetefeld","year":"2005","journal-title":"Trends Biochem Sci"},{"key":"ref381","first-page":"314","article-title":"Human DDB splicing variants are dominant negative inhibitors of UV - 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