Exon Junction Sequences as Cryptic Splice Sites

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Exon Junction Sequences as Cryptic Splice Sites Terrie Sadusky, Andrew J Newman, Nicholas J Dibb  Current Biology  Volume 14, Issue 6, Pages 505-509 (March 2004) DOI: 10.1016/j.cub.2004.02.063

Figure 1 Sequence of the Human β-actin Gene Showing the Position of All Known Introns and Cryptic Splice Sites from the Actin Gene Family Black triangles, four introns of the human β-actin gene at codons 44-0, 124-0, 270-1, and 331-0; smaller open triangles, actin introns present in other species (see text); black circles, cryptic splice sites (see text). 44-0 means that the intron falls between codons 43 and 44; 270-1 means that the intron falls between the first and second base of codon 270. Current Biology 2004 14, 505-509DOI: (10.1016/j.cub.2004.02.063)

Figure 2 Identification of Actin Cryptic Splice Sites (A) The human β-actin gene, which consists of five exons (boxes) and four introns. Triangles A–F, cryptic splice sites. 17-1 and 249-0 are the codon locations of cryptic splice sites A and E. Pr1 and Pr2, primers for RT-PCR analysis. (B) RT-PCR analysis of pcDNA: human β-actin constructs expressed in 293T cells. Lane 1, vector only; lane 2, nontransfected control cells; lane 3, normal β-actin; lane 4, 5′ splice site mutation of intron 1; lane 5, 5′ splice site mutation of intron 2. Current Biology 2004 14, 505-509DOI: (10.1016/j.cub.2004.02.063)

Figure 3 Alignment of Cryptic Splice Sites and Introns from the Indicated Actin Genes Phy, Physarum; hum, human; Arab, Arabidopsis. Cryptic splice site 17-1 could be shifted in position to 15-1 or 15-2 by minor mutations (highlighted) of the human β-actin gene. Circles, cryptic splice sites; triangles, introns. The high level of conservation of the sequences shown in Figure 3 is typical for over 95% of the length of the actin gene sequence [24]. Current Biology 2004 14, 505-509DOI: (10.1016/j.cub.2004.02.063)