Studies of human diseases have shown that nonsense mutations can alter pre-mRNA splicing. A new study, focusing on the breast cancer susceptibility gene, BRCA1, demonstrates that one explanation lies in a disrupted exonic splicing enhancer rather than a disrupted translational reading frame. Despite the growing appreciation of the frequent occurrence of exonic sequences that affect the use of splice sites, the prevalence of single-nucleotide polymorphisms that alter splicing has probably been vastly underestimated.
References
Liu, H.-X., Cartegni, L., Zhang, M.Q. & Krainer, A.R. Nature Genet. 27, 55–58 (2001).
Mazoyer, S. et al. Am. J. Hum. Genet. 62, 713– 715 (1998).
Maquat, L.E. Am. J. Hum. Genet. 59, 279–286 (1996).
Hentze, M.W. & Kulozik, A.E. Cell 96, 307–310 (1998).
Li, S. & Wilkinson, M.F. Immunity 8, 135–141 (1998).
Valentine, C.R. Mut. Res. 411, 87–117 ( 1998).
Maquat, L.E. in Translational Control of Gene Expression (eds. Sonenberg, N., Hershey, J.W.B. & Mathews, M.B.) (Cold Spring Harbor Press, Cold Spring Harbor, 2000).
Dietz, H.C. & Kendzior, R.J., Jr. . Nature Genet. 8, 183–188 ( 1994).
Gerasppe, A., Burger, L. & Pintel, D.J. J. Biol. Chem. 274, 22452– 22458 (1999).
D'Souza, I. et al. Proc. Natl. Acad. Sci. USA 96, 5598 –5603 (1999).
Vuillaumier-Barrot, S. et al. Human Mut. 14, 543– 544 (1999).
Blencowe, B.J. Trends in Biol. Sci. 25, 106–110 (2000).
Fairbrother, W.G. & Chasin, L.A. Mol. Cell. Biol. 20, 6816–6825 ( 2000).
Cooper, T.A. & Mattox, W. Am. J. Hum. Genet. 61 , 259–266 (1997).
Kan, J.L.C. & Green, M.R. Genes Dev. 13, 462–471 (1999).
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Maquat, L. The power of point mutations. Nat Genet 27, 5–6 (2001). https://doi.org/10.1038/83759
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DOI: https://doi.org/10.1038/83759
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