Department of Biochemistry and Biophysics, School of
Medicine and Dentistry, University of Rochester, Rochester,
New York 14642, USA. lynne_maquat@urmc.rochester.edu
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.
