The origins and implications of Aluternative splicing
The origins and implications of Aluternative splicing
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DOI：
10.1016/j.tig.2003.11.001
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发表时间：
2004-01-01
影响因子：
11.4
通讯作者：
Graveley, BR
中科院分区：
文献类型：
--
作者：
Kreahling, J;Graveley, BR
10%的人类基因组是由高度重复的DNA序列组成的，称为AN元素。最近发现，至少5%的人类替代外显子来自AN元素。此外，单核苷酸突变可以将替代或沉默的AN元件转化为构成外显子，这可能导致人类疾病的发展。这些结果为人类基因组中“垃圾DNA”的功能和危险提供了新的见解。
Ten percent of the human genome is composed of highly repetitive DNA sequences called AN elements. It has recently been found that at least 5% of all human alternative exons are derived from AN elements. Moreover, single nucleotide mutations can convert either alternative or otherwise silent AN elements into constitutive exons and this can lead to the development of human disease. These results provide new insights into the function and dangers of 'junk DNA' in the human genome.