The power of point mutations

被引：36

作者：

Maquat, LE ^{[1
]}

机构：

[1] Univ Rochester, Sch Med & Dent, Dept Biochem & Biophys, Rochester, NY 14642 USA

来源：

NATURE GENETICS | 2001年 / 27卷 / 01期

关键词：

D O I：

10.1038/83759

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：5 / 6

页数：2

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