Regular ArticleUnusual Mutations in Btk: An Insertion, a Duplication, an Inversion, and Four Large Deletions
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2013, GeneCitation Excerpt :It is possible that insertions in splicing regulatory regions disturb the binding of splicing factors or induce changes in pre-mRNA secondary structure. Of the four insertions in introns (Conley et al., 2005; Rohrer et al., 1999; Taniguchi-Ikeda et al., 2011; Wilund et al., 2002) (Figs. 2A, B and C), the first two showed exonization and exon skipping. In the third case an intronic insertion in the antisense orientation resulted in reduced mRNA or protein levels for unknown reasons (Makino et al., 2007).
SVA retrotransposons: Evolution and genetic instability
2010, Seminars in Cancer BiologyCitation Excerpt :In all regards, SVA is a successful pseudogene. SVA is currently more active than high-copy pseudogenes, such as processed ribosomal pseudogenes, as evidenced by seven published SVA insertions associated with disease [43,79–84] (Table 1) and no disease associated pseudogene insertions. Second, each mRNA pseudogene originates from primarily one source locus, while retrotransposed SVAs are derived from many loci, as indicated by the variation in 5′ [29] and 3′ transductions [39], indicating multiple SVA source loci.
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