"Copy and paste" transposable elements in the human genome.
作者信息
Kazazian H H, Scott A F
出版信息
J Clin Invest. 1993 May;91(5):1859-60. doi: 10.1172/JCI116400.
Abstract
摘要
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"Copy and paste" transposable elements in the human genome.人类基因组中的“复制粘贴”转座元件。
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Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy.在一例杜氏肌营养不良症中，一个5'端截短的L1元件插入到抗肌萎缩蛋白基因第44外显子的3'端，导致该外显子在剪接过程中发生跳跃。
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本文引用的文献
1
Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy.在一例杜氏肌营养不良症中，一个5'端截短的L1元件插入到抗肌萎缩蛋白基因第44外显子的3'端，导致该外显子在剪接过程中发生跳跃。
J Clin Invest. 1993 May;91(5):1862-7. doi: 10.1172/JCI116402.
2
Haemophilia B due to a de novo insertion of a human-specific Alu subfamily member within the coding region of the factor IX gene.由于人特异性Alu亚家族成员在凝血因子IX基因编码区内的从头插入导致的乙型血友病。
Eur J Hum Genet. 1993;1(1):30-6. doi: 10.1159/000472385.
3
Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man.由L1序列的从头插入导致的甲型血友病代表了人类突变的一种新机制。
Nature. 1988 Mar 10;332(6160):164-6. doi: 10.1038/332164a0.
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LINE-1: a mammalian transposable element.
Biochim Biophys Acta. 1987 Dec 8;910(3):203-12. doi: 10.1016/0167-4781(87)90112-6.
5
Reverse transcriptase encoded by a human transposable element.由人类转座元件编码的逆转录酶。
Science. 1991 Dec 20;254(5039):1808-10. doi: 10.1126/science.1722352.
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A de novo Alu insertion results in neurofibromatosis type 1.一个从头发生的Alu插入导致1型神经纤维瘤病。
Nature. 1991 Oct 31;353(6347):864-6. doi: 10.1038/353864a0.
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Ribonucleoprotein particles with LINE-1 RNA in mouse embryonal carcinoma cells.小鼠胚胎癌细胞中含有LINE-1 RNA的核糖核蛋白颗粒。
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Origin and evolution of retroelements based upon their reverse transcriptase sequences.基于反转录酶序列的反转录元件的起源与进化
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Isolation of an active human transposable element.一种活性人类转座元件的分离
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Inactivation of the cholinesterase gene by Alu insertion: possible mechanism for human gene transposition.通过Alu插入使胆碱酯酶基因失活：人类基因转座的可能机制。
Proc Natl Acad Sci U S A. 1991 Dec 15;88(24):11315-9. doi: 10.1073/pnas.88.24.11315.
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