Generation and Characterization of a Transgenic Mouse Carrying a Functional Human β-Globin Gene with the IVSI-6 Thalassemia Mutation
Strengths of the normal and cryptic splicing sites generated by the β+IVSI-6 thalassemic mutation.
+1 (mutated IVSI-6)
PTC. Unstable transcript, low sensitivity to NMD (in comparison with the −16 cryptic splicing site)
PTC. Unstable transcript, sensitive to NMD
No PTC. GT located 7 nucleotides downstream the IVSI-6 mutation
Sequences of the normal and cryptic splicing sites generated by the β+IVSI-6 thalassemic mutation. The cryptic donor GU (boxed) sites are numbered with respect to the +1 position of the normal one. Potential Watson-Crick base pairs to U1 (upper) and U6 (lower) are quantified: (+) indicates a G/U wobble base pair. Strengths of donor splicing sites are expressed as scores calculated with Human Splicing Finder Matrices from http://www.umd.be/HSF/ (a) or MaxEntScan from http://www.umd.be/HSF/ (b) or from http://www.fruitfly.org/seq_tools/splice.html (c).
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