BioMed Research International / 2015 / Article / Tab 5

Research Article

Generation and Characterization of a Transgenic Mouse Carrying a Functional Human β-Globin Gene with the IVSI-6 Thalassemia Mutation

Table 5

Strengths of the normal and cryptic splicing sites generated by the β+IVSI-6 thalassemic mutation.

Splicing siteSequence Base pairsStrength Amplicon sizeComments/Hypotheses
(a)(b)(c)

+1
(normal)
7+




3+
86.648.080.64153 bp

+1
(mutated
IVSI-6)
6+




2+
84.465.520.14153 bp

−38
(cryptic)
5+




1
83.505.540.21115 bpPTC. Unstable transcript, low sensitivity to NMD
(in comparison with the −16 cryptic splicing site)

−16
(cryptic)
5+




2
90.406.130.54137 bpPTC. Unstable transcript, sensitive to NMD

+13
(cryptic)
5+




1+
79.67−0.830.46165 bpNo 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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