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The origins and implications of Aluternative splicing
被引:70
作者:

Kreahling, J
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Univ Connecticut, Ctr Hlth, Dept Genet & Dev Biol, Farmington, CT 06030 USA Univ Connecticut, Ctr Hlth, Dept Genet & Dev Biol, Farmington, CT 06030 USA

Graveley, BR
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Univ Connecticut, Ctr Hlth, Dept Genet & Dev Biol, Farmington, CT 06030 USA Univ Connecticut, Ctr Hlth, Dept Genet & Dev Biol, Farmington, CT 06030 USA
机构:
[1] Univ Connecticut, Ctr Hlth, Dept Genet & Dev Biol, Farmington, CT 06030 USA
关键词:
D O I:
10.1016/j.tig.2003.11.001
中图分类号:
Q3 [遗传学];
学科分类号:
071007 ;
090102 ;
摘要:
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.
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机构: Whitehead Inst Biomed Res, Ctr Genome Res, Cambridge, MA 02142 USA

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Sheridan, A
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机构: Whitehead Inst Biomed Res, Ctr Genome Res, Cambridge, MA 02142 USA

Sougnez, C
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机构: Whitehead Inst Biomed Res, Ctr Genome Res, Cambridge, MA 02142 USA

Stange-Thomann, N
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机构: Whitehead Inst Biomed Res, Ctr Genome Res, Cambridge, MA 02142 USA

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机构: Whitehead Inst Biomed Res, Ctr Genome Res, Cambridge, MA 02142 USA

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机构: Whitehead Inst Biomed Res, Ctr Genome Res, Cambridge, MA 02142 USA

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机构: Whitehead Inst Biomed Res, Ctr Genome Res, Cambridge, MA 02142 USA

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机构: Whitehead Inst Biomed Res, Ctr Genome Res, Cambridge, MA 02142 USA

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机构: Whitehead Inst Biomed Res, Ctr Genome Res, Cambridge, MA 02142 USA

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机构: Whitehead Inst Biomed Res, Ctr Genome Res, Cambridge, MA 02142 USA

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Bentley, D
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机构: Whitehead Inst Biomed Res, Ctr Genome Res, Cambridge, MA 02142 USA

Burton, J
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Clee, C
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Carter, N
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Coulson, A
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Deadman, R
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Deloukas, P
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