IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genome-Reference-Cited by-同舟云学术

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IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genome

Published:2016-03-24 Issue:7 Volume:61 Page:633-640
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Shibata Akihide,Okuno Tatsuya,Rahman Mohammad Alinoor,Azuma Yoshiteru,Takeda Jun-ichi,Masuda Akio,Selcen Duygu,Engel Andrew G,Ohno Kinji

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg201623.pdf

Reference43 articles.

1. Black, D. L. Mechanisms of alternative pre-messenger RNA splicing. Annu. Rev. Biochem. 72, 291–336 (2003).

2. Jurica, M. S. & Moore, M. J. Pre-mRNA splicing: awash in a sea of proteins. Mol. Cell. 12, 5–14 (2003).

3. Reed, R. Initial splice-site recognition and pairing during pre-mRNA splicing. Curr. Opin. Genet. Dev. 6, 215–220 (1996).

4. Gooding, C., Edge, C., Lorenz, M., Coelho, M. B., Winters, M., Kaminski, C. F. et al. MBNL1 and PTB cooperate to repress splicing of Tpm1 exon 3. Nucleic Acids Res. 41, 4765–4782 (2013).

5. Krawczak, M., Thomas, N. S., Hundrieser, B., Mort, M., Wittig, M., Hampe, J. et al. Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing. Hum. Mutat. 28, 150–158 (2007).

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