New connections between splicing and human disease.
New connections between splicing and human disease.
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DOI：
10.1016/j.tig.2012.01.001
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发表时间：
2012-04
影响因子：
11.4
通讯作者：
Padgett, Richard A.
中科院分区：
文献类型：
--
作者：
Padgett, Richard A.
The removal by splicing of introns from the primary transcripts of most mammalian genes is an essential step in gene expression. Splicing is performed by large, complex ribonucleoprotein particles called spliceosomes. Mammals contain two types that splice out mutually exclusive types of introns. However, the role of the minor spliceosome has been poorly studied. Recent reports have now shown that mutations in one minor spliceosomal snRNA, U4atac, are linked to a rare autosomal recessive developmental defect. In addition, very exciting recent results of exome deep sequencing have found that recurrent, somatic, heterozygous mutations of other splicing factors occur at high frequencies in certain cancers and pre-cancerous conditions suggesting that alterations in the core splicing machinery can contribute to tumorigenesis. Missplicing of critical genes may underlie the pathologies of both these diseases. Identifying these genes and understanding the mechanisms involved in their missplicing may lead to advancements in diagnosis and treatment.
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