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II\u578b\u5185\u542b\u5b50\u7684\u8f6c\u5ea7\u673a\u5236\u7b80\u56fe\uff08Cousineau, B. ,\u00a0 Smith, D. ,\u00a0 Lawrence-Cavanagh, S. ,\u00a0 Mueller, J. E. ,\u00a0 Y\u00a0 Jian, &\u00a0 Mills, D. , et al. (1998). Retrohoming of a bacterial group ii intron: mobility via complete reverse splicing, independent of homologous dna recombination. , 94(4), 0-462.\uff09<\/span><\/p>

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\u6b64\u5916\uff0c\u5728\u53bb\u9664\u53c2\u4e0e\u5185\u542b\u5b50\u526a\u5207\u7684\u526a\u63a5\u56e0\u5b50ASF\/SF2\u540e\uff0c\u771f\u6838\u7ec6\u80de\u57fa\u56e0\u7ec4\u51fa\u73b0\u660e\u663e\u7684\u4e0d\u7a33\u5b9a\u5e76\u5728\u7ec6\u80de\u6838\u4e2d\u51fa\u73b0\u67d3\u8272\u4f53\u5916\u7684\u9ad8\u5206\u5b50\u957fDNA\u7247\u6bb516<\/sup><\/a>\u3002\u8fd9\u4e00\u73b0\u8c61\u540c\u6837\u5370\u8bc1\u4e86pre-mRNA\u5e8f\u5217\u7684\u8bc6\u522b\u526a\u5207\u53ca\u5176\u4ea7\u7269\u5957\u7d22RNA\u5728\u57fa\u56e0\u7ec4\u91cd\u6784\u4e2d\u6240\u53d1\u6325\u7684\u91cd\u8981\u4f5c\u7528\u3002<\/p>

\"\"<\/p>

Pre-RNA\u6240\u526a\u5207\u7684\u5185\u542b\u5b50\u4e3a\u77ed\u7247\u6bb5\u3002\u524d\u4f53RNA\u5177\u6709\u4e24\u5957\u5185\u542b\u5b50\u526a\u5207\u65b9\u5f0f\uff0c\u5176\u4e2d\u4e00\u79cd\u4e0d\u526a\u5207\u5916\u663e\u5b50\uff0c\u5360\u7edd\u5927\u591a\u6570\uff0c\u5176\u5f3a\u70c8\u538b\u5236\u53e6\u4e00\u79cd\u526a\u5207\u5916\u663e\u5b50\u7684\u65b9\u5f0f\uff08Sui, Y., & Peng, S. (2021). A Mechanism Leading to Changes in Copy Number Variations Affected by Transcriptional Level Might Be Involved in Evolution, Embryonic Development, Senescence, and Oncogenesis Mediated by Retrotransposons.\u00a0Frontiers in cell and developmental biology<\/em>,\u00a09<\/em>, 618113. https:\/\/doi.org\/10.3389\/fcell.2021.618113\uff09<\/span><\/p>

\u9510\u6e43\u5c14\u00ae<\/sup>\uff08REPERE\u00ae<\/sup>\uff09<\/strong>\u6280\u672f\u7684\u7406\u8bba\u57fa\u7840<\/strong>3\u2014\u2014<\/strong>\u4eba\u7c7b\u9006\u8f6c\u5ea7\u5b50\u534f\u52a9\u5185\u542b\u5b50\u8fdb\u884c\u57fa\u56e0\u7ec4\u91cd\u6784<\/strong><\/p>

\u6b64\u524d\u63d0\u5230\u7684\u7ec6\u83cc\u4e2d\u7684II\u578b\u5185\u542b\u5b50\u4e88\u4ee5\u6211\u4eec\u4e00\u5b9a\u7684\u542f\u793a\uff0c\u63d0\u793a\u5185\u542b\u5b50RNA\u53ef\u7531\u9006\u8f6c\u5ea7\u5b50\u9006\u8f6c\u5f55\u4e3a\u5355\u94fe\u53ca\u53cc\u94feDNA\u5e76\u6574\u5408\u5165\u57fa\u56e0\u7ec4\uff0c\u800c\u4eba\u4f53\u5185\u6070\u597d\u5b58\u5728\u81f3\u4eca\u4ecd\u5177\u6709\u6d3b\u6027\u7684\u9006\u8f6c\u5ea7\u5b50Alu\u5143\u4ef6\u548cLINE-1 17<\/sup><\/a>,<\/sup>18<\/sup><\/a>\u3002LINE-1\u7f16\u7801ORF2p\u2014\u2014\u4eba\u4f53\u5185\u6e90\u6027\u7684\u5185\u5207\u9176\u548c\u9006\u8f6c\u5f55\u9176\uff0c\u8be5\u86cb\u767d\u53ef\u52a9\u5176\u672c\u8eab\u7684RNA\u4e43\u81f3\u4efb\u610fmRNA\u9006\u8f6c\u5f55\u5e76\u63d2\u5165\uff08\u8f6c\u5ea7\uff09\u56de\u57fa\u56e0\u7ec417<\/sup><\/a>,<\/sup>18<\/sup><\/a>\uff1bAlu\u5143\u4ef6\u6240\u8f6c\u5f55\u7684RNA\u4ea6\u53ef\u4e0eORF2p\u76f8\u7ed3\u5408\u5e76\u5728\u5176\u8f85\u52a9\u4e0b\u9006\u8f6c\u5f55\u5e76\u63d2\u5165\uff08\u8f6c\u5ea7\uff09\u81f3\u57fa\u56e0\u7ec4\u4e2d17<\/sup><\/a>,<\/sup>18<\/sup><\/a>\u3002<\/p>

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Alu\u5143\u4ef6\u8f6c\u5f55\u4ea7\u7269RNA\u5728CNV\u5ef6\u4f38\u673a\u5236\u4e2d\u7684\u526a\u63a5\u4f4d\u70b9\uff08\u7eff\u8272\uff09\u3001\u5185\u5207\u8bc6\u522b\u5e8f\u5217\uff08\u7ea2\u8272\uff09\uff08\u9ed1\u8272\u7ebf\u6761\u6807\u793a\u5206\u5217\u4e8e\u201c\u03a9\u201d\u7ed3\u6784\u4e24\u811a\u4e0a\u7684\u8bc6\u522b\u5e8f\u5217\uff09\u53ca\u5185\u5207\u4f5c\u7528\u4e8c\u7ea7\u7ed3\u6784\u201c\u03a9\u201d\uff08\u84dd\u8272\uff09<\/span>
\u56fe\u7247\u6458\u81eaH\u00e4sler J, Strub K. Alu elements asregulators of gene expression [published correction appears in Nucleic AcidsRes. 2007;35(4):1389].\u00a0Nucleic Acids Res<\/em>. 2006;34(19):5491-5497.doi:10.1093\/nar\/gkl706<\/span><\/p>

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ORF2p\u4e8e\u57fa\u56e0\u7ec4\u4e0a\u6240\u9020\u6210\u7684\u5b9e\u9645\u63d2\u5165\u5e8f\u5217\uff0c\u7ea2\u6846\u6807\u51fa\u201c\u03a9\u201d\u7ed3\u6784\u4e00\u4fa7\u7684\u8bc6\u522b\u5e8f\u5217\u00a0 \u00a0 \u00a0 \u00a0 \u00a0<\/span>\u56fe\u7247\u6458\u81eaCost, G. J., and Boeke, J. D. (1998). Targeting ofhuman retrotransposon integration is directed by the specificity of the L1endonuclease for regions of unusual DNA structure. Biochemistry 37,18081\u201318093. doi: 10.1021\/bi981858s<\/span><\/p>

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\u9510\u6e43\u5c14\u00ae<\/sup><\/strong>\uff08REPERE\u00ae<\/sup><\/strong>)\u6280\u672f\u57fa\u7840\u673a\u5236\u7684\u539f\u7406\u7b80\u56fe\uff08Sui, Y., & Peng, S. (2021). A Mechanism Leading to Changes in Copy Number Variations Affected by Transcriptional Level Might Be Involved in Evolution, Embryonic Development, Senescence, and Oncogenesis Mediated by Retrotransposons.\u00a0Frontiers in cell and developmental biology<\/em>,\u00a09<\/em>, 618113. https:\/\/doi.org\/10.3389\/fcell.2021.618113<\/a>\uff09<\/span><\/p>

\u00a0<\/span><\/p>

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\u9510\u6e43\u5c14\u00ae<\/sup><\/strong>\uff08REPERE\u00ae<\/sup><\/strong>\uff09\u6280\u672f\u57fa\u7840\u673a\u5236\u4e0eII\u578b\u5185\u542b\u5b50\u5f52\u5de2\u673a\u5236\u7684\u5bf9\u6bd4\uff08Sui, Y., & Peng, S. (2021). A Mechanism Leading to Changes in Copy Number Variations Affected by Transcriptional Level Might Be Involved in Evolution, Embryonic Development, Senescence, and Oncogenesis Mediated by Retrotransposons. Frontiers in cell and developmental biology<\/em>,\u00a09<\/em>, 618113. https:\/\/doi.org\/10.3389\/fcell.2021.618113<\/a>\uff09<\/span><\/p>

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\u9510\u6e43\u5c14\u00ae<\/sup><\/strong>\uff08REPERE\u00ae<\/sup><\/strong>\uff09\u6280\u672f\u57fa\u7840\u673a\u5236\u7684\u539f\u7406\u7b80\u56fe\uff0c\u7531\u56fe\u53ef\u89c1CNV\u7684\u9010\u6e10\u5ef6\u4f38\u673a\u5236\uff0c\u5373CNV\u5ef6\u4f38\u7406\u8bba\uff08Sui, Y., & Peng, S. (2021). A Mechanism Leading to Changes in Copy Number Variations Affected by Transcriptional Level Might Be Involved in Evolution, Embryonic Development, Senescence, and Oncogenesis Mediated by Retrotransposons.\u00a0Frontiers in cell and developmental biology<\/em>,\u00a09<\/em>, 618113. https:\/\/doi.org\/10.3389\/fcell.2021.618113<\/a>\uff09<\/span><\/p>

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\u80da\u80ce\u53d1\u80b2\u65f6\u671f\u57fa\u4e8e\u9006\u8f6c\u5ea7\u5b50\u53ca\u5185\u542b\u5b50\u7684CNV\u5ef6\u4f38\uff08Sui, Y., & Peng, S. (2021). A Mechanism Leading to Changes in Copy Number Variations Affected by Transcriptional Level Might Be Involved in Evolution, Embryonic Development, Senescence, and Oncogenesis Mediated by Retrotransposons.\u00a0Frontiers in cell and developmental biology<\/em>,\u00a09<\/em>, 618113. https:\/\/doi.org\/10.3389\/fcell.2021.618113<\/a>\uff09<\/span><\/p>

\u00a0<\/strong>\u6709\u589e\u6dfb\uff0c\u76f8\u5e94\u7684\u5c31\u6709\u5220\u51cf\u3002\u5bf9\u4e8e\u5df2\u7ecf\u5206\u5316\u7684\u7ec6\u80de\uff0c\u82e5\u9700\u8981\u91cd\u65b0\u53d8\u4e3a\u80da\u80ce\u8fdb\u884c\u53d1\u80b2\uff08\u5982\u7cbe\u5b50\u548c\u5375\u5b50\u7ed3\u5408\u8f6c\u5316\u4e3a\u53d7\u7cbe\u5375\u6216\u5e94\u7528\u4f53\u7ec6\u80de\u8fdb\u884c\u514b\u9686\uff09\uff0c\u5219\u52bf\u5fc5\u9700\u8981\u91cd\u65b0\u521d\u59cb\u5316\uff0c\u5c06\u5df2\u7ecf\u6dfb\u52a0\u7684\u3001\u7528\u4ee5\u4fc3\u8fdb\u5206\u5316\u7684\u5404\u57fa\u56e0\u62f7\u8d1d\uff08\u526f\u672c\uff09\u53bb\u9664\u3002Alu\u5143\u4ef6\u7684\u4e8e\u57fa\u56e0\u7ec4\u4e0a\u5e7f\u6cdb\u5206\u5e03\u4e14\u76f8\u540c\u7c7b\u578bAlu\u5143\u4ef6\u805a\u96c6\u4e8e\u540c\u4e00\u533a\u57df60<\/sup><\/a>,<\/sup>61<\/sup><\/a>\u7b49\u7279\u6027\u4f7f\u5f97Alu\u5143\u4ef6\u4e92\u76f8\u4e4b\u95f4\u53ef\u53d1\u751f\u540c\u6e90\u91cd\u7ec4\u5e76\u5220\u53bb\u53d1\u751f\u540c\u6e90\u91cd\u7ec4\u7684\u4e24\u4e2aAlu\u5143\u4ef6\u4e4b\u95f4\u7684\u533a\u57df\uff0c\u6700\u7ec8\u5220\u53bb\u6574\u4e2a\u57fa\u56e0\u62f7\u8d1d\uff08\u526f\u672c\uff09\u3002\u867d\u7136Alu\u5143\u4ef6\u5e7f\u6cdb\u4e14\u8f83\u4e3a\u5747\u5300\u7684\u5206\u5e03\u4e8e\u5404\u57fa\u56e0\u4e2d\uff0c\u4f46\u7531\u4e8e\u57fa\u56e0\u7ec4\u4e2d\u5927\u90e8\u5206\u7684CpG\u5c9b\u5b58\u5728\u4e8eAlu\u5143\u4ef6\u4e2d\u5e76\u5bfc\u81f4Alu\u5143\u4ef6\u9ad8\u7532\u57fa\u5316\uff0c\u4f7f\u5f97\u57fa\u56e0\u7ec4\u4e0a\u7684Alu\u5143\u4ef6\u7ec8\u4e2a\u4f53\u4e00\u751f\u5747\u4fdd\u6301\u9ad8\u7532\u57fa\u72b6\u600162<\/sup><\/a>,<\/sup>63<\/sup><\/a>\uff0c\u9ad8\u7532\u57fa\u5316\u7684Alu\u5143\u4ef6\u4e4b\u95f4\u56e0\u65e0\u6cd5\u53d1\u751f\u540c\u6e90\u91cd\u7ec464<\/sup><\/a>\uff0c\u9632\u6b62\u4e86\u4e24\u4e2aAlu\u5143\u4ef6\u4e4b\u95f4\u53d1\u751f\u540c\u6e90\u91cd\u7ec4\u800c\u5bfc\u81f4\u7684\u4e8c\u8005\u4e4b\u95f4\u7247\u6bb5\u7684\u4e22\u5931\uff0c\u4f7f\u5f97\u80da\u80ce\u53d1\u80b2\u5206\u5316\u4ea7\u751f\u7684\u57fa\u56e0\u62f7\u8d1d\uff08\u526f\u672c\uff09\u53ef\u4ee5\u7a33\u5b9a\u4fdd\u5b58\uff0c\u7ec6\u80de\u8868\u578b\u5f97\u4ee5\u7a33\u5b9a\u5b58\u5728\uff0c\u6301\u7eed\u4e2a\u4f53\u4e00\u751f\u3002<\/p>

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\u00a0<\/strong>\u5728\u65e9\u671f\u80da\u80ce\u7740\u5e8a\u540e\uff0c\u80da\u80ce\u7ec6\u80de\u7684\u5168\u57fa\u56e0\u7ec4\u7532\u57fa\u5316\u6c34\u5e73\u4ece\u8c37\u5e95\u53cd\u5f39\u56de\u8f83\u9ad8\u6c34\u5e73\uff0c\u5e76\u5c06\u7ef4\u6301\u4e8e\u8f83\u9ad8\u6c34\u5e73\u76f4\u81f3\u51fa\u751f\u4e43\u81f3\u751f\u547d\u7684\u7ec8\u751f65<\/sup><\/a>,<\/sup>67<\/sup><\/a>,<\/sup>68<\/sup><\/a>\uff0c\u9632\u6b62\u4e86Alu\u5143\u4ef6\u4e4b\u95f4\u7684\u540c\u6e90\u91cd\u7ec4\u53ca\u7247\u6bb5\u5220\u9664\uff0c\u4e3a\u6b64\u540e\u7684\u80da\u80ce\u65f6\u671f\u7684\u57fa\u56e0\u62f7\u8d1d\uff08\u526f\u672c\uff09\u7684\u91cd\u65b0\u5ef6\u4f38\u548c\u6269\u589e\u4ee5\u53ca\u51fa\u751f\u540e\u80da\u80ce\u5206\u5316\u6210\u679c\u7684\u7ef4\u6301\u63d0\u4f9b\u4e86\u57fa\u7840\u3002\u80da\u80ce\u65f6\u671f\u4e0d\u540c\u7ec6\u80de\u7684\u4e0d\u540c\u8f6c\u5f55\u72b6\u51b5\u4f7f\u5f97\u76f8\u5e94\u7ec6\u80de\u5185\u51fa\u73b0\u4e0d\u540c\u7684\u57fa\u56e0CNV\u5ef6\u4f38\u548c\u6269\u589e\uff0c\u6700\u7ec8\u5206\u5316\u4e3a\u4e0d\u540c\u7ec6\u80de\u3002\u5728\u80da\u80ce\u53d1\u80b2\u8fc7\u7a0b\u4e2d\uff0c\u4e0d\u540c\u7ec4\u7ec7\u53ca\u540c\u4e00\u7ec4\u7ec7\u5728\u4e0d\u540c\u65f6\u671f\uff0c\u5176\u86cb\u767d\u8868\u8fbe\u5404\u4e0d\u76f8\u540c67<\/sup><\/a>\uff0c\u4ea6\u4f50\u8bc1\u4e86\u8fd9\u4e00\u673a\u5236\u3002\u6b64\u5916\uff0c\u4e0a\u6587\u63d0\u5230\u7684\u67d3\u8272\u4f53\u5916\u7684DNA\u7247\u6bb5\uff0c\u5728\u80da\u80ce\u53d1\u80b2\u8fc7\u7a0b\u4e2d\u7684\u5404\u4e2a\u9636\u6bb5\u4e0d\u65ad\u53d8\u531669<\/sup><\/a>,<\/sup>70<\/sup><\/a>\uff0c\u4e5f\u63d0\u793a\u4e86\u57fa\u56e0\u7ec4\u5728\u80da\u80ce\u53d1\u80b2\u8fc7\u7a0b\u7684\u4e0d\u540c\u9636\u6bb5\u63a5\u53d7\u4e86\u4e0d\u540c\u7684\u91cd\u6784\u3002\u57fa\u4e8eCNV\u5ef6\u4f38\u7406\u8bba\uff0c\u5728\u80da\u80ce\u53d1\u80b2\u8fc7\u7a0b\u4e2d\uff0c\u6bcf\u6b21\u7ec6\u80de\u5206\u88c2\u5747\u4f1a\u5e26\u6765\u7ec6\u5fae\u7684\u7279\u5b9a\u57fa\u56e0\u62f7\u8d1d\uff08\u526f\u672c\uff09\u6539\u53d8\uff0c\u4e0d\u540c\u57fa\u56e0\u7684\u62f7\u8d1d\uff08\u526f\u672c\uff09\u6539\u53d8\u3001\u540c\u4e00\u57fa\u56e0\u7684\u4e0d\u540c\u62f7\u8d1d\uff08\u526f\u672c\uff09\u6539\u53d8\u53ca\u5176\u5bfc\u81f4\u7684\u57fa\u56e0\u8868\u8fbe\u6539\u53d8\u7684\u5927\u91cf\u7ec4\u5408\u4e3a\u80da\u80ce\u53d1\u80b2\u7684\u7cbe\u5bc6\u6027\u548c\u590d\u6742\u6027\u63d0\u4f9b\u4e86\u57fa\u7840\u3002<\/p>

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\u6bcf\u4e2a\u7ec6\u80de\u7279\u5f81\u6027\u7684CNV\u6539\u53d8\u5c06\u5f71\u54cd\u76f8\u5e94\u7ec6\u80de\u8868\u578b\uff0c\u7ee7\u800c\u5f71\u54cd\u5176\u4ed6\u7ec6\u80de\u7684\u57fa\u56e0\u8868\u8fbe\u548cCNV\u62f7\u8d1d\u5ef6\u4f38\uff0c\u6700\u7ec8\u5f62\u6210\u80da\u80ce\u4e2d\u590d\u6742\u4e14\u5404\u5f02\u7684\u5404\u7ec6\u80de\u8868\u578b\uff08Sui, Y., & Peng, S. (2021). A Mechanism Leading to Changes in Copy Number Variations Affected by Transcriptional Level Might Be Involved in Evolution, Embryonic Development, Senescence, and Oncogenesis Mediated by Retrotransposons.\u00a0Frontiers in cell and developmental biology<\/em>,\u00a09<\/em>, 618113. https:\/\/doi.org\/10.3389\/fcell.2021.618113<\/a>\uff09<\/span><\/p>

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\u629b\u5f00\u57fa\u56e0\u7684\u62f7\u8d1d\u6570\u53d8\u5316\uff0cIT15<\/em>\u548cFMR1<\/em>\u57fa\u56e0\u4e0a\u7684\u91cd\u590d\u4e09\u8054\u6838\u82f7\u9178\u7684\u6269\u589e71-75<\/sup><\/a>\u4ee5\u53caHIV\u57fa\u56e0\u504f\u597d\u63d2\u5165\u4e8e\u57fa\u56e0\u7ec4Alu\u5143\u4ef6\u4e2d76-78<\/sup><\/a>\uff0c\u540c\u6837\u4e0e\u6240\u6d89\u57fa\u56e0\u7684\u8f6c\u5f55\u6c34\u5e73\u548c\u7ec6\u80de\u5206\u88c2\u6709\u7740\u7d27\u5bc6\u7684\u8054\u7cfb\uff0c\u8fdb\u4e00\u6b65\u63d0\u793a\u57fa\u56e0\u7ec4\u91cd\u6784\u4e0e\u57fa\u56e0\u8f6c\u5f55\u3001\u7ec6\u80de\u5206\u88c2\u4ee5\u53caAlu\u5143\u4ef6\u4e4b\u95f4\u5b58\u5728\u5173\u8054\u3002<\/p>

\u5728\u80bf\u7624\u7ec6\u80de\u4e2d\uff0cAlu\u5143\u4ef6\u3001LINE-1\u53ca\u5176\u8f6c\u5ea7\u6240\u9700\u7684\u86cb\u767d\u5982ORF2p\u5747\u660e\u663e\u63d0\u9ad879<\/sup><\/a>,<\/sup>80<\/sup><\/a>\uff0c\u63d0\u793a\u8f6c\u5ea7\u5b50\u4e0e\u80bf\u7624\u53d1\u751f\u4e4b\u95f4\u53ef\u80fd\u5b58\u5728\u8054\u7cfb\u3002\u5728\u80bf\u7624\u7ec6\u80de\u4e2d\uff0c\u53ef\u4ee5\u89c2\u5bdf\u5230\u9ad8\u8868\u8fbe\u7684\u764c\u57fa\u56e0\u7684\u6269\u589e\u4ee5\u53ca\u4f4e\u8868\u8fbe\u7684\u6291\u764c\u57fa\u56e0\u7684\u62f7\u8d1d\u6570\u51cf\u5c1141<\/sup><\/a>,<\/sup>81-88<\/sup><\/a>\u3002\u540c\u65f6\uff0c\u4e00\u4e9b\u80bf\u7624\u76f8\u5bf9\u56fa\u5b9a\u7684\u53d1\u75c5\u5e74\u9f8489<\/sup><\/a>,<\/sup>90<\/sup><\/a>\u4ea6\u63d0\u793a\u5728\u80bf\u7624\u53d1\u751f\u7684\u8fc7\u7a0b\u4e2d\u5b58\u5728\u67d0\u79cd\u7c7b\u4f3c\u7d2f\u53ca\u6548\u5e94\u7684\u673a\u5236\u5b58\u5728\u3002\u6b64\u5916\uff0c\u5bf9\u4e8e\u4e0d\u5206\u88c2\u7684\u7ec6\u80de\u5982\u6210\u719f\u5206\u5316\u7684\u5404\u7c7b\u808c\u8089\u7ec6\u80de\u548c\u795e\u7ecf\u5143\uff0c\u5176\u76f8\u5e94\u80bf\u7624\u7684\u53d1\u751f\u662f\u6781\u5176\u7f55\u89c1\u7684\uff0c\u751a\u81f3\u662f\u4e0d\u5b58\u5728\u7684\uff1b\u6b64\u5916\uff0c\u624b\u672f\u5207\u9664\u540e\u590d\u53d1\u7684\u80f6\u8d28\u7624\uff0c\u5176\u80bf\u7624\u7ec6\u80de\u5728\u624b\u672f\u540e\u7ecf\u6301\u7eed\u5206\u88c2\uff0c\u5176\u7ea7\u522b\u901a\u5e38\u4ea6\u4f1a\u6709\u6240\u5347\u9ad891<\/sup><\/a>\uff0c\u63d0\u793a\u4e86\u80bf\u7624\u53d1\u751f\u4e0e\u7ec6\u80de\u5206\u88c2\u7684\u7d27\u5bc6\u5173\u7cfb\uff0c\u800c\u6839\u636e\u9510\u6e43\u5c14\u00ae<\/sup>\uff08REPERE\u00ae<\/sup><\/strong>\uff09\u57fa\u7840\u673a\u5236\uff0c\u9ad8\u8868\u8fbe\u7684\u57fa\u56e0\uff08\u5982\u80bf\u7624\u7ec6\u80de\u4e2d\u7684\u764c\u57fa\u56e0\uff09\uff0c\u5176\u57fa\u56e0\u62f7\u8d1d\uff08\u526f\u672c\uff09\u968f\u7ec6\u80de\u5206\u88c2\u8fdb\u884c\u6269\u589e\u5e76\u53ef\u56e0\u6b64\u5bfc\u81f4\u80bf\u7624\u7ea7\u522b\u63d0\u9ad8\uff0c\u8fd9\u4e0e\u590d\u53d1\u80bf\u7624\u7684\u7ea7\u522b\u4e0a\u5347\u73b0\u8c61\u6b63\u662f\u76f8\u7b26\u7684\u3002\u4ee5\u4e0a\u79cd\u79cd\u80bf\u7624\u53d1\u751f\u7684\u76f8\u5173\u73b0\u8c61\u540c\u6837\u5747\u4e0e\u9510\u6e43\u5c14\u00ae<\/sup>\uff08REPERE\u00ae<\/sup><\/strong>\uff09\u7684\u57fa\u7840\u673a\u5236\u76f8\u7b26\u5408\uff0c\u63d0\u793a\u9510\u6e43\u5c14\u00ae<\/sup>\uff08REPERE\u00ae<\/sup><\/strong>\uff09\u57fa\u7840\u673a\u5236\u5728\u80bf\u7624\u53d1\u751f\u4e2d\u8d77\u7740\u91cd\u8981\u4f5c\u7528\u3002<\/p>

\u9510\u6e43\u5c14\u00ae<\/sup>\uff08REPERE\u00ae<\/sup>\uff09\u7684\u57fa\u7840\u673a\u5236\u4ea6\u53ef\u89c1\u4e8eHIV\u57fa\u56e0\u7ec4\u7684\u4eba\u7c7b\u57fa\u56e0\u7ec4\u63d2\u5165\u73b0\u8c61\u3002HIV\u57fa\u56e0\u7ec4\u504f\u597d\u4e8e\u63d2\u5165\u81f3\u4eba\u7c7b\u57fa\u56e0\u7ec4\u4e2d\u7684Alu\u5143\u4ef6\u4e2d\uff0c\u5c24\u5176\u662f\u9ad8\u8f6c\u5f55\u6c34\u5e73\u57fa\u56e0\u4e0a\u7684Alu\u5143\u4ef6\uff0c\u6b64\u79cd\u514b\u9686\u6027\u6269\u589e\u7684\u63d2\u5165\u4ec5\u53d1\u751f\u4e8e\u4eba\u4f53\u4e2d\u5c11\u6570\u5177\u6709\u6301\u7eed\u589e\u6b96\u80fd\u529b\u7684\u7ec6\u80de76-78<\/sup><\/a>\uff0c\u800c\u5728\u4eba\u4f53\u5185\uff0c\u6070\u6070\u4ec5\u5177\u6709\u6301\u7eed\u589e\u6b96\u80fd\u529b\u7684\u5e72\u7ec6\u80de\u4e2d\u7684LINE-1\u548cAlu\u5143\u4ef6\u4ecd\u65e7\u4fdd\u6301\u8f6c\u5ea7\u6d3b\u6027\uff0c\u63d0\u793aHIV\u57fa\u56e0\u7ec4\u7684\u8fd9\u79cd\u63d2\u5165\u65b9\u5f0f\u4e0e\u4eba\u4f53\u5185\u7684\u8f6c\u5ea7\u5b50\u76f8\u5173\uff1b\u6b64\u5916\uff0c\u5728\u4e0a\u8ff0\u73b0\u8c61\u4e2d\u88ab\u63d2\u5165\u7684HIV\u57fa\u56e0\u7ec4\u4ec5\u4e3a\u5176\u5b8c\u6574\u57fa\u56e0\u7ec4\u7684\u4e00\u90e8\u5206\uff08\u4e3b\u8981\u4e3aHIV\u57fa\u56e0\u7ec4\u76845’\u90e8\u5206\uff09\u4ea6\u63d0\u793a\u8be5\u63d2\u5165\u4e0epre-mRNA\u7684\u526a\u5207\u76f8\u517376-78<\/sup><\/a>\u3002\u8be5\u8fc7\u7a0b\u53ef\u7b80\u8ff0\u4e3a\uff1a\u5f53HIV\u901a\u8fc7\u5176\u81ea\u8eab\u7684\u6574\u5408\u9176\u63d2\u5165\u81f3\u4eba\u7c7b\u57fa\u56e0\u7ec4\u4e2d\u7684Alu\u5143\u4ef6\u5e8f\u5217\u4e2d\u540e\uff0c\u8be5Alu\u5143\u4ef6\u6240\u5728\u7684\u57fa\u56e0\u8fdb\u884c\u8f6c\u5f55\u4ea7\u751f\u76f8\u5e94\u57fa\u56e0pre-mRNA\uff0c\u6b64\u540e\u8be5pre-mRNA\u88ab\u526a\u63a5\u4f53\u526a\u5207\u4ea7\u751f5’\u7aef\u843d\u5728Alu\u5143\u4ef6\u5185\u5e76\u5305\u542b\u6709\u90e8\u5206HIV\u57fa\u56e0\u7ec4\u5e8f\u5217\uff08\u4e3b\u8981\u4e3a\u51765’\u90e8\u5206\uff0c\u5728\u57fa\u56e0\u4e0a\u7d27\u90bbAlu\u5e8f\u5217\uff09\u7684\u5185\u542b\u5b50RNA\u5957\u7d22\uff0c\u8be5\u5185\u542b\u5b50RNA\u5957\u7d22\u4e0b\u6e38\u8fde\u63a5\u7ecf\u526a\u5207\u6240\u5f97\u7684Alu-RNA\u76843’\u90e8\u5206\uff0c\u6b64\u65f6\u8be5\u90e8\u5206HIV\u57fa\u56e0\u7ec4\u5e8f\u5217\u4e24\u4fa7\u5747\u4e3aAlu\u5e8f\u5217\uff0c\u6700\u540e\u901a\u8fc7\u9510\u6e43\u5c14\u00ae<\/sup>\uff08REPERE\u00ae<\/sup>\uff09\u57fa\u7840\u673a\u5236\uff0c\u501f\u7531Alu\u5e8f\u5217\u4e4b\u95f4\u76f8\u540c\u6216\u76f8\u4f3c\u7684\u5e8f\u5217\uff0c\u90e8\u5206HIV\u57fa\u56e0\u7ec4\u901a\u8fc7\u5176\u76f8\u5e94\u7684\u5185\u542b\u5b50\u5957\u7d22-Alu\uff08RNA\uff09\u4e0d\u65ad\u63d2\u5165\u81f3\u4eba\u4f53\u57fa\u56e0\u7ec4\u5185\u7684\u5176\u4ed6Alu\u5143\u4ef6\u4e2d\uff0c\u4e8e\u5177\u6709\u589e\u6b96\u80fd\u529b\u7684\u514d\u75ab\u7ec6\u80de\u7684\u57fa\u56e0\u7ec4\u5185\u5e7f\u6cdb\u4e14\u6301\u7eed\u7684\u8fdb\u884c\u6269\u589e\u3002<\/p>

\"\"<\/p>

\u57fa\u4e8e\u9510\u6e43\u5c14\u00ae<\/sup>\uff08<\/strong>REPERE\u00ae<\/sup>\uff09<\/strong>\u6280\u672f\u57fa\u7840\u673a\u5236\u7684HIV\u57fa\u56e0\u7ec4\u4e8e\u4eba\u7c7b\u57fa\u56e0\u7ec4Alu\u5143\u4ef6\u5185\u7684\u514b\u9686\u6027\u6269\u589e\uff08Sui, Y., & Peng, S. (2021). A Mechanism Leading to Changes in Copy Number Variations Affected by Transcriptional Level Might Be Involved in Evolution, Embryonic Development, Senescence, and Oncogenesis Mediated by Retrotransposons. Frontiers in cell and developmental biology<\/em>,\u00a09<\/em>, 618113. https:\/\/doi.org\/10.3389\/fcell.2021.618113<\/a>\uff09<\/span><\/p>

\u6b64\u5916\uff0c\u5728Huntington\u821e\u8e48\u75c5\u53ca\u8106\u6027X\u7efc\u5408\u75c7\u4e2d\uff0c\u81f4\u75c5\u57fa\u56e0\uff08IT15<\/em>\u548cFMR1<\/em>\uff09\u8f6c\u5f55\u533a\u57df\u4e2d\u8fc7\u957f\u7684\u4e09\u8054\u6838\u82f7\u9178\u91cd\u590d\u5e8f\u5217\u5c06\u4f1a\u5bfc\u81f4\u8be5\u4e09\u8054\u6838\u82f7\u9178\u91cd\u590d\u5e8f\u5217\u7684\u9010\u6e10\u6269\u589e\uff0c\u8fd9\u4e00\u6269\u589e\u73b0\u8c61\u4e0e\u76f8\u5e94\u57fa\u56e0\u7684\u8f6c\u5f55\u6c34\u5e73\u9ad8\u5ea6\u76f8\u517371-75<\/sup><\/a>\u3002\u4f9d\u636e\u9510\u6e43\u5c14\u00ae<\/sup>\uff08REPERE\u00ae<\/sup>\uff09\u57fa\u7840\u673a\u5236\uff0c\u5f53\u4e09\u8054\u6838\u82f7\u9178\u91cd\u590d\u5e8f\u5217\u8fc7\u957f\u65f6\uff0c\u5185\u542b\u5b50RNA\u5957\u7d22\u76845’\u7aef\u5e8f\u5217\u5c06\u53ef\u80fd\u7531\u4e09\u8054\u91cd\u590d\u5e8f\u5217\u5916\u7684\u7279\u5f02\u6027\u5e8f\u5217\u843d\u81f3\u4e09\u8054\u91cd\u590d\u5e8f\u5217\u5185\uff0c\u4f7f\u5f97\u672c\u5e94\u5177\u6709\u7279\u5f02\u6027\u7684\u5185\u542b\u5b50RNA\u5957\u7d22\u76845’\u7aef\u5e8f\u5217\u4e27\u5931\u7279\u5f02\u6027\uff0c\u4ece\u800c\u5bfc\u81f4\u9510\u6e43\u5c14\u00ae<\/sup>\uff08REPERE\u00ae<\/sup>\uff09\u57fa\u7840\u673a\u5236\u4e2dORF2p\u7684\u5e8f\u5217\u8bc6\u522b\u4e27\u5931\u7279\u5f02\u6027\uff0c\u6700\u7ec8\u5c06\u4e09\u8054\u6838\u82f7\u9178\u91cd\u590d\u5e8f\u5217\u4e0d\u65ad\u63d2\u5165\u81f3\u57fa\u56e0\u7ec4\u7684\u4e09\u8054\u6838\u82f7\u9178\u91cd\u590d\u5e8f\u5217\u4e2d\uff0c\u5f15\u53d1\u76f8\u5e94\u75be\u75c5\u75c7\u72b6\u3002<\/p>

\"\"<\/p>

\u57fa\u4e8e\u9510\u6e43\u5c14\u00ae<\/sup>\uff08<\/strong>REPERE\u00ae<\/sup>\uff09<\/strong>\u6280\u672f\u57fa\u7840\u673a\u5236\u7684\u4ea8\u5ef7\u987f\u821e\u8e48\u75c7\u548c\u8106\u6027X\u7efc\u5408\u75c7\u7684\u81f4\u75c5\u57fa\u56e0\u4e2d\u7684\u91cd\u590d\u4e09\u8054\u6838\u82f7\u9178\u5e8f\u5217\u7684\u6269\u589e\u673a\u5236\uff08Sui, Y., & Peng, S. (2021). A Mechanism Leading to Changes in Copy Number Variations Affected by Transcriptional Level Might Be Involved in Evolution, Embryonic Development, Senescence, and Oncogenesis Mediated by Retrotransposons. Frontiers in cell and developmental biology<\/em>,\u00a09<\/em>, 618113. https:\/\/doi.org\/10.3389\/fcell.2021.618113<\/a>\uff09<\/span><\/p>

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1\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Guo H, Karberg M, Long M et al.<\/em> Group II introns designed to insert into therapeutically relevant DNA target sites in human cells. Science (New York, N.Y.).<\/em> 2000;289(5478): 452-457. doi:10.1126\/science.289.5478.452.<\/p>

2\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Guo H, Zimmerly S, Perlman PS et al.<\/em> Group II intron endonucleases use both RNA and protein subunits for recognition of specific sequences in double-stranded DNA. The EMBO journal.<\/em> 1997;16(22): 6835-6848. doi:10.1093\/emboj\/16.22.6835.<\/p>

3\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Jim\u00e9nez-Zurdo JI, Garc\u00eda-Rodr\u00edguez FM, Barrientos-Dur\u00e1n A et al.<\/em> DNA target site requirements for homing in vivo of a bacterial group II intron encoding a protein lacking the DNA endonuclease domain. Journal of molecular biology.<\/em> 2003;326(2): 413-423. doi:10.1016\/s0022-2836(02)01380-3.<\/p>

4\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Singh NN ,Lambowitz AM. Interaction of a group II intron ribonucleoprotein endonuclease with its DNA target site investigated by DNA footprinting and modification interference. Journal of molecular biology.<\/em> 2001;309(2): 361-386. doi:10.1006\/jmbi.2001.4658.<\/p>

5\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Cousineau B, Lawrence S, Smith D et al.<\/em> Retrotransposition of a bacterial group II intron. Nature.<\/em> 2000;404(6781): 1018-1021. doi:10.1038\/35010029.<\/p>

6\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Sullivan JC, Reitzel AM,Finnerty JR. A high percentage of introns in human genes were present early in animal evolution: evidence from the basal metazoan Nematostella vectensis. Genome informatics. International Conference on Genome Informatics.<\/em> 2006;17(1): 219-229.<\/p>

7\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Lander ES, Linton LM, Birren B et al.<\/em> Initial sequencing and analysis of the human genome. Nature.<\/em> 2001;409(6822): 860-921. doi:10.1038\/35057062.<\/p>

8\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Burnette JM, Miyamoto-Sato E, Schaub MA et al.<\/em> Subdivision of large introns in Drosophila by recursive splicing at nonexonic elements. Genetics.<\/em> 2005;170(2): 661-674. doi:10.1534\/genetics.104.039701.<\/p>

9\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Kelly S, Georgomanolis T, Zirkel A et al.<\/em> Splicing of many human genes involves sites embedded within introns. Nucleic acids research.<\/em> 2015;43(9): 4721-4732. doi:10.1093\/nar\/gkv386.<\/p>

10\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Taggart AJ, DeSimone AM, Shih JS et al.<\/em> Large-scale mapping of branchpoints in human pre-mRNA transcripts in vivo. Nature structural & molecular biology.<\/em> 2012;19(7): 719-721. doi:10.1038\/nsmb.2327.<\/p>

11\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Zhang Y, Zhang XO, Chen T et al.<\/em> Circular intronic long noncoding RNAs. Molecular cell.<\/em> 2013;51(6): 792-806. doi:10.1016\/j.molcel.2013.08.017.<\/p>

12\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Panda AC, De S, Grammatikakis I et al.<\/em> High-purity circular RNA isolation method (RPAD) reveals vast collection of intronic circRNAs. Nucleic acids research.<\/em> 2017;45(12): e116. doi:10.1093\/nar\/gkx297.<\/p>

13\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Harris NL ,Senapathy P. Distribution and consensus of branch point signals in eukaryotic genes: a computerized statistical analysis. Nucleic acids research.<\/em> 1990;18(10): 3015-3019. doi:10.1093\/nar\/18.10.3015.<\/p>

14\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Pan Q, Shai O, Lee LJ et al.<\/em> Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing. Nature genetics.<\/em> 2008;40(12): 1413-1415. doi:10.1038\/ng.259.<\/p>

15\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Wang ET, Sandberg R, Luo S et al.<\/em> Alternative isoform regulation in human tissue transcriptomes. Nature.<\/em> 2008;456(7221): 470-476. doi:10.1038\/nature07509.<\/p>

16\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Li X ,Manley JL. Inactivation of the SR protein splicing factor ASF\/SF2 results in genomic instability. Cell.<\/em> 2005;122(3): 365-378. doi:10.1016\/j.cell.2005.06.008.<\/p>

17\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Streva VA, Faber ZJ,Deininger PL. LINE-1 and Alu retrotransposition exhibit clonal variation. Mobile DNA.<\/em> 2013;4(1): 16. doi:10.1186\/1759-8753-4-16.<\/p>

18\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 de Andrade A, Wang M, Bonaldo MF et al.<\/em> Genetic and epigenetic variations contributed by Alu retrotransposition. BMC genomics.<\/em> 2011;12(617. doi:10.1186\/1471-2164-12-617.<\/p>

19\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Shibata Y, Kumar P, Layer R et al.<\/em> Extrachromosomal microDNAs and chromosomal microdeletions in normal tissues. Science (New York, N.Y.).<\/em> 2012;336(6077): 82-86. doi:10.1126\/science.1213307.<\/p>

20\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Dillon LW, Kumar P, Shibata Y et al.<\/em> Production of Extrachromosomal MicroDNAs Is Linked to Mismatch Repair Pathways and Transcriptional Activity. Cell reports.<\/em> 2015;11(11): 1749-1759. doi:10.1016\/j.celrep.2015.05.020.<\/p>

21\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Esnault C, Maestre J,Heidmann T. Human LINE retrotransposons generate processed pseudogenes. Nature genetics.<\/em> 2000;24(4): 363-367. doi:10.1038\/74184.<\/p>

22\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Dewannieux M, Esnault C,Heidmann T. LINE-mediated retrotransposition of marked Alu sequences. Nature genetics.<\/em> 2003;35(1): 41-48. doi:10.1038\/ng1223.<\/p>

23\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Maraia RJ, Driscoll CT, Bilyeu T et al.<\/em> Multiple dispersed loci produce small cytoplasmic Alu RNA. Molecular and cellular biology.<\/em> 1993;13(7): 4233-4241. doi:10.1128\/mcb.13.7.4233-4241.1993.<\/p>

24\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Chu WM, Liu WM,Schmid CW. RNA polymerase III promoter and terminator elements affect Alu RNA expression. Nucleic acids research.<\/em> 1995;23(10): 1750-1757. doi:10.1093\/nar\/23.10.1750.<\/p>

25\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Wallace N, Wagstaff BJ, Deininger PL et al.<\/em> LINE-1 ORF1 protein enhances Alu SINE retrotransposition. Gene.<\/em> 2008;419(1-2): 1-6. doi:10.1016\/j.gene.2008.04.007.<\/p>

26\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Mathias SL, Scott AF, Kazazian HH, Jr. et al.<\/em> Reverse transcriptase encoded by a human transposable element. Science (New York, N.Y.).<\/em> 1991;254(5039): 1808-1810. doi:10.1126\/science.1722352.<\/p>

27\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 H\u00e4sler J ,Strub K. Alu elements as regulators of gene expression. Nucleic acids research.<\/em> 2006;34(19): 5491-5497. doi:10.1093\/nar\/gkl706.<\/p>

28\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Cost GJ ,Boeke JD. Targeting of human retrotransposon integration is directed by the specificity of the L1 endonuclease for regions of unusual DNA structure. Biochemistry.<\/em> 1998;37(51): 18081-18093. doi:10.1021\/bi981858s.<\/p>

29\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Iafrate AJ, Feuk L, Rivera MN et al.<\/em> Detection of large-scale variation in the human genome. Nature genetics.<\/em> 2004;36(9): 949-951. doi:10.1038\/ng1416.<\/p>

30\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Sebat J, Lakshmi B, Troge J et al.<\/em> Large-scale copy number polymorphism in the human genome. Science (New York, N.Y.).<\/em> 2004;305(5683): 525-528. doi:10.1126\/science.1098918.<\/p>

31\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Redon R, Ishikawa S, Fitch KR et al.<\/em> Global variation in copy number in the human genome. Nature.<\/em> 2006;444(7118): 444-454. doi:10.1038\/nature05329.<\/p>

32\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Korbel JO, Urban AE, Affourtit JP et al.<\/em> Paired-end mapping reveals extensive structural variation in the human genome. Science (New York, N.Y.).<\/em> 2007;318(5849): 420-426. doi:10.1126\/science.1149504.<\/p>

33\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Kang X, Yu Q, Huang Y et al.<\/em> Effects of Integrating and Non-Integrating Reprogramming Methods on Copy Number Variation and Genomic Stability of Human Induced Pluripotent Stem Cells. PloS one.<\/em> 2015;10(7): e0131128. doi:10.1371\/journal.pone.0131128.<\/p>

34\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Abyzov A, Mariani J, Palejev D et al.<\/em> Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells. Nature.<\/em> 2012;492(7429): 438-442. doi:10.1038\/nature11629.<\/p>

35\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Vanneste E, Voet T, Le Caignec C et al.<\/em> Chromosome instability is common in human cleavage-stage embryos. Nature medicine.<\/em> 2009;15(5): 577-583. doi:10.1038\/nm.1924.<\/p>

36\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Zhu P, Guo H, Ren Y et al.<\/em> Single-cell DNA methylome sequencing of human preimplantation embryos.\u00a0 2018;50(1): 12-19. doi:10.1038\/s41588-017-0007-6.<\/p>

37\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Claycomb JM, Benasutti M, Bosco G et al.<\/em> Gene amplification as a developmental strategy: isolation of two developmental amplicons in Drosophila. Developmental cell.<\/em> 2004;6(1): 145-155. doi:10.1016\/s1534-5807(03)00398-8.<\/p>

38\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Fischer U, Keller A, Voss M et al.<\/em> Genome-wide gene amplification during differentiation of neural progenitor cells in vitro. PloS one.<\/em> 2012;7(5): e37422. doi:10.1371\/journal.pone.0037422.<\/p>

39\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Meinhardt G, Kaltenberger S, Fiala C et al.<\/em> ERBB2 gene amplification increases during the transition of proximal EGFR(+) to distal HLA-G(+) first trimester cell column trophoblasts. Placenta.<\/em> 2015;36(8): 803-808. doi:10.1016\/j.placenta.2015.05.017.<\/p>

40\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Hannibal RL ,Baker JC. Selective Amplification of the Genome Surrounding Key Placental Genes in Trophoblast Giant Cells. Current biology : CB.<\/em> 2016;26(2): 230-236. doi:10.1016\/j.cub.2015.11.060.<\/p>

41\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Shao X, Lv N, Liao J et al.<\/em> Copy number variation is highly correlated with differential gene expression: a pan-cancer study.\u00a0 2019;20(1): 175. doi:10.1186\/s12881-019-0909-5.<\/p>

42\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Henrichsen CN, Vinckenbosch N, Z\u00f6llner S et al.<\/em> Segmental copy number variation shapes tissue transcriptomes. Nature genetics.<\/em> 2009;41(4): 424-429. doi:10.1038\/ng.345.<\/p>

43\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Fischer U, Backes C, Fehlmann T et al.<\/em> Prospect and challenge of detecting dynamic gene copy number increases in stem cells by whole genome sequencing. Journal of molecular medicine (Berlin, Germany).<\/em> 2019;97(8): 1099-1111. doi:10.1007\/s00109-019-01792-y.<\/p>

44\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Chaignat E, Yahya-Graison EA, Henrichsen CN et al.<\/em> Copy number variation modifies expression time courses. Genome research.<\/em> 2011;21(1): 106-113. doi:10.1101\/gr.112748.110.<\/p>

45\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Liang Q, Conte N, Skarnes WC et al.<\/em> Extensive genomic copy number variation in embryonic stem cells. Proceedings of the National Academy of Sciences of the United States of America.<\/em> 2008;105(45): 17453-17456. doi:10.1073\/pnas.0805638105.<\/p>

46\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Martin SL. The ORF1 protein encoded by LINE-1: structure and function during L1 retrotransposition. Journal of biomedicine & biotechnology.<\/em> 2006;2006(1): 45621. doi:10.1155\/jbb\/2006\/45621.<\/p>

47\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Adeniyi-Jones S ,Zasloff M. Transcription, processing and nuclear transport of a B1 Alu RNA species complementary to an intron of the murine alpha-fetoprotein gene. Nature.<\/em> 1985;317(6032): 81-84. doi:10.1038\/317081a0.<\/p>

48\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Kerachian MA ,Kerachian M. Long interspersed nucleotide element-1 (LINE-1) methylation in colorectal cancer. Clinica chimica acta; international journal of clinical chemistry.<\/em> 2019;488(209-214. doi:10.1016\/j.cca.2018.11.018.<\/p>

49\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Whongsiri P, Goering W,Lautwein T. Many Different LINE-1 Retroelements Are Activated in Bladder Cancer.\u00a0 2020;21(24). doi:10.3390\/ijms21249433.<\/p>

50\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Percharde M, Lin CJ, Yin Y et al.<\/em> A LINE1-Nucleolin Partnership Regulates Early Development and ESC Identity. Cell.<\/em> 2018;174(2): 391-405.e319. doi:10.1016\/j.cell.2018.05.043.<\/p>

51\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Ngamphiw C, Tongsima S,Mutirangura A. Roles of intragenic and intergenic L1s in mouse and human. PloS one.<\/em> 2014;9(11): e113434. doi:10.1371\/journal.pone.0113434.<\/p>

52\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Matsutani S. Links between repeated sequences. Journal of biomedicine & biotechnology.<\/em> 2006;2006(1): 13569. doi:10.1155\/jbb\/2006\/13569.<\/p>

53\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Ostertag EM, DeBerardinis RJ, Goodier JL et al.<\/em> A mouse model of human L1 retrotransposition. Nature genetics.<\/em> 2002;32(4): 655-660. doi:10.1038\/ng1022.<\/p>

54\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Prak ET, Dodson AW, Farkash EA et al.<\/em> Tracking an embryonic L1 retrotransposition event. Proceedings of the National Academy of Sciences of the United States of America.<\/em> 2003;100(4): 1832-1837. doi:10.1073\/pnas.0337627100.<\/p>

55\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Muotri AR, Chu VT, Marchetto MC et al.<\/em> Somatic mosaicism in neuronal precursor cells mediated by L1 retrotransposition. Nature.<\/em> 2005;435(7044): 903-910. doi:10.1038\/nature03663.<\/p>

56\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Evenson DP, Darzynkiewicz Z,Melamed MR. Relation of mammalian sperm chromatin heterogeneity to fertility. Science (New York, N.Y.).<\/em> 1980;210(4474): 1131-1133. doi:10.1126\/science.7444440.<\/p>

57\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Pavl\u00edcek A, Jabbari K, Paces J et al.<\/em> Similar integration but different stability of Alus and LINEs in the human genome. Gene.<\/em> 2001;276(1-2): 39-45. doi:10.1016\/s0378-1119(01)00645-x.<\/p>

58\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Grover D, Majumder PP, C BR et al.<\/em> Nonrandom distribution of alu elements in genes of various functional categories: insight from analysis of human chromosomes 21 and 22. Molecular biology and evolution.<\/em> 2003;20(9): 1420-1424. doi:10.1093\/molbev\/msg153.<\/p>

59\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Korenberg JR ,Rykowski MC. Human genome organization: Alu, lines, and the molecular structure of metaphase chromosome bands. Cell.<\/em> 1988;53(3): 391-400. doi:10.1016\/0092-8674(88)90159-6.<\/p>

60\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Filatov LV, Mamayeva SE,Tomilin NV. Non-random distribution of Alu-family repeats in human chromosomes. Molecular biology reports.<\/em> 1987;12(2): 117-122. doi:10.1007\/bf00368879.<\/p>

61\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Grover D, Mukerji M, Bhatnagar P et al.<\/em> Alu repeat analysis in the complete human genome: trends and variations with respect to genomic composition. Bioinformatics (Oxford, England).<\/em> 2004;20(6): 813-817. doi:10.1093\/bioinformatics\/bth005.<\/p>

62\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Khitrinskaya IY, Stepanov VA,Puzyrev VP. Alu Repeats in the Human Genome. Molecular Biology.<\/em> 2003;37(3): 325-333.<\/p>

63\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Saeliw T, Tangsuwansri C, Thongkorn S et al.<\/em> Integrated genome-wide Alu methylation and transcriptome profiling analyses reveal novel epigenetic regulatory networks associated with autism spectrum disorder.\u00a0 2018;9(27. doi:10.1186\/s13229-018-0213-9.<\/p>

64\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Colot V, Maloisel L,Rossignol JL. [DNA repeats and homologous recombination: a probable role for DNA methylation in genome stability of eukaryotic cells]. Journal De La Soci\u00e9t\u00e9 De Biologie.<\/em> 1999;193(1): 29.<\/p>

65\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Smith ZD, Chan MM, Humm KC et al.<\/em> DNA methylation dynamics of the human preimplantation embryo. Nature.<\/em> 2014;511(7511): 611-615. doi:10.1038\/nature13581.<\/p>

66\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Guo H, Zhu P, Yan L et al.<\/em> The DNA methylation landscape of human early embryos. Nature.<\/em> 2014;511(7511): 606-610. doi:10.1038\/nature13544.<\/p>

67\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Tang F, Barbacioru C, Bao S et al.<\/em> Tracing the derivation of embryonic stem cells from the inner cell mass by single-cell RNA-Seq analysis. Cell stem cell.<\/em> 2010;6(5): 468-478. doi:10.1016\/j.stem.2010.03.015.<\/p>

68\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Guo F, Yan L, Guo H et al.<\/em> The Transcriptome and DNA Methylome Landscapes of Human Primordial Germ Cells. Cell.<\/em> 2015;161(6): 1437-1452. doi:10.1016\/j.cell.2015.05.015.<\/p>

69\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Cohen S, Menut S,M\u00e9chali M. Regulated formation of extrachromosomal circular DNA molecules during development in Xenopus laevis. Molecular and cellular biology.<\/em> 1999;19(10): 6682-6689. doi:10.1128\/mcb.19.10.6682.<\/p>

70\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Cohen S, Yacobi K,Segal D. Extrachromosomal circular DNA of tandemly repeated genomic sequences in Drosophila. Genome research.<\/em> 2003;13(6a): 1133-1145. doi:10.1101\/gr.907603.<\/p>

71\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Fortune MT, Vassilopoulos C, Coolbaugh MI et al.<\/em> Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability. Human molecular genetics.<\/em> 2000;9(3): 439-445. doi:10.1093\/hmg\/9.3.439.<\/p>

72\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Cleary JD, Tom\u00e9 S, L\u00f3pez Castel A et al.<\/em> Tissue- and age-specific DNA replication patterns at the CTG\/CAG-expanded human myotonic dystrophy type 1 locus. Nature structural & molecular biology.<\/em> 2010;17(9): 1079-1087. doi:10.1038\/nsmb.1876.<\/p>

73\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Lee JM, Zhang J, Su AI et al.<\/em> A novel approach to investigate tissue-specific trinucleotide repeat instability. BMC systems biology.<\/em> 2010;4(29. doi:10.1186\/1752-0509-4-29.<\/p>

74\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Field M, Dudding-Byth T, Arpone M et al.<\/em> Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing.\u00a0 2019;20(16). doi:10.3390\/ijms20163907.<\/p>

75\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Li SH, Schilling G, Young WS, 3rd et al.<\/em> Huntington’s disease gene (IT15) is widely expressed in human and rat tissues. Neuron.<\/em> 1993;11(5): 985-993. doi:10.1016\/0896-6273(93)90127-d.<\/p>

76\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Cohn LB, Silva IT, Oliveira TY et al.<\/em> HIV-1 integration landscape during latent and active infection. Cell.<\/em> 2015;160(3): 420-432. doi:10.1016\/j.cell.2015.01.020.<\/p>

77\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Maldarelli F, Wu X, Su L et al.<\/em> HIV latency. Specific HIV integration sites are linked to clonal expansion and persistence of infected cells. Science (New York, N.Y.).<\/em> 2014;345(6193): 179-183. doi:10.1126\/science.1254194.<\/p>

78\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Wagner TA, McLaughlin S, Garg K et al.<\/em> HIV latency. Proliferation of cells with HIV integrated into cancer genes contributes to persistent infection. Science (New York, N.Y.).<\/em> 2014;345(6196): 570-573. doi:10.1126\/science.1256304.<\/p>

79\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Su Y, Davies S, Davis M et al.<\/em> Expression of LINE-1 p40 protein in pediatric malignant germ cell tumors and its association with clinicopathological parameters: a report from the Children’s Oncology Group. Cancer letters.<\/em> 2007;247(2): 204-212. doi:10.1016\/j.canlet.2006.04.010.<\/p>

80\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Harris CR, Normart R, Yang Q et al.<\/em> Association of nuclear localization of a long interspersed nuclear element-1 protein in breast tumors with poor prognostic outcomes. Genes & cancer.<\/em> 2010;1(2): 115-124. doi:10.1177\/1947601909360812.<\/p>

81\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Slamon DJ. Studies of the HER-2\/neu proto-oncogene in human breast cancer. Cancer investigation.<\/em> 1990;8(2): 253. doi:10.3109\/07357909009017573.<\/p>

82\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Slamon DJ, Godolphin W, Jones LA et al.<\/em> Studies of the HER-2\/neu proto-oncogene in human breast and ovarian cancer. Science (New York, N.Y.).<\/em> 1989;244(4905): 707-712. doi:10.1126\/science.2470152.<\/p>

83\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Lovekin C, Ellis IO, Locker A et al.<\/em> c-erbB-2 oncoprotein expression in primary and advanced breast cancer. British journal of cancer.<\/em> 1991;63(3): 439-443. doi:10.1038\/bjc.1991.101.<\/p>

84\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 O’Reilly SM, Barnes DM, Camplejohn RS et al.<\/em> The relationship between c-erbB-2 expression, S-phase fraction and prognosis in breast cancer. British journal of cancer.<\/em> 1991;63(3): 444-446. doi:10.1038\/bjc.1991.102.<\/p>

85\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Paterson MC, Dietrich KD, Danyluk J et al.<\/em> Correlation between c-erbB-2 amplification and risk of recurrent disease in node-negative breast cancer. Cancer Res.<\/em> 1991;51(2): 556-567.<\/p>

86\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Niu D, Li L, Yu Y et al.<\/em> Evaluation of Next Generation Sequencing for Detecting HER2 Copy Number in Breast and Gastric Cancers. Pathology oncology research : POR.<\/em> 2020;26(4): 2577-2585. doi:10.1007\/s12253-020-00844-w.<\/p>

87\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Wei M, Grushko TA, Dignam J et al.<\/em> BRCA1 promoter methylation in sporadic breast cancer is associated with reduced BRCA1 copy number and chromosome 17 aneusomy. Cancer Res.<\/em> 2005;65(23): 10692-10699. doi:10.1158\/0008-5472.can-05-1277.<\/p>

88\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Kwon SM, Kim DS, Won NH et al.<\/em> Genomic copy number alterations with transcriptional deregulation at 6p identify an aggressive HCC phenotype. Carcinogenesis.<\/em> 2013;34(7): 1543-1550. doi:10.1093\/carcin\/bgt095.<\/p>

89\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Kuchenbaecker KB, Hopper JL, Barnes DR et al.<\/em> Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. Jama.<\/em> 2017;317(23): 2402-2416. doi:10.1001\/jama.2017.7112.<\/p>

90\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Copson ER, Maishman TC, Tapper WJ et al.<\/em> Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study. The Lancet. Oncology.<\/em> 2018;19(2): 169-180. doi:10.1016\/s1470-2045(17)30891-4.<\/p>

91\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Jaeckle KA, Decker PA, Ballman KV et al.<\/em> Transformation of low grade glioma and correlation with outcome: an NCCTG database analysis. Journal of neuro-oncology.<\/em> 2011;104(1): 253-259. doi:10.1007\/s11060-010-0476-2.<\/p>

92\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Hu EA, Pan A, Malik V et al.<\/em> White rice consumption and risk of type 2 diabetes: meta-analysis and systematic review. BMJ (Clinical research ed.).<\/em> 2012;344(e1454. doi:10.1136\/bmj.e1454.<\/p>

93\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Bhavadharini B ,Mohan V. White Rice Intake and Incident Diabetes: A Study of 132,373 Participants in 21 Countries.\u00a0 2020;43(11): 2643-2650. doi:10.2337\/dc19-2335.<\/p>

94\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Ambati J, Magagnoli J, Leung H et al.<\/em> Repurposing anti-inflammasome NRTIs for improving insulin sensitivity and reducing type 2 diabetes development.\u00a0 2020;11(1): 4737. doi:10.1038\/s41467-020-18528-z.<\/p>

95\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Shampay J ,Blackburn EH. Generation of telomere-length heterogeneity in Saccharomyces cerevisiae. Proceedings of the National Academy of Sciences of the United States of America.<\/em> 1988;85(2): 534-538. doi:10.1073\/pnas.85.2.534.<\/p>

96\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Sobinoff AP ,Pickett HA. Mechanisms that drive telomere maintenance and recombination in human cancers. Current opinion in genetics & development.<\/em> 2020;60(25-30. doi:10.1016\/j.gde.2020.02.006.<\/p>

97\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Danilevskaya ON, Arkhipova IR, Traverse KL et al.<\/em> Promoting in tandem: the promoter for telomere transposon HeT-A and implications for the evolution of retroviral LTRs. Cell.<\/em> 1997;88(5): 647-655. doi:10.1016\/s0092-8674(00)81907-8.<\/p>

98\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Villasante A, de Pablos B, M\u00e9ndez-Lago M et al.<\/em> Telomere maintenance in Drosophila: rapid transposon evolution at chromosome ends. Cell cycle (Georgetown, Tex.).<\/em> 2008;7(14): 2134-2138. doi:10.4161\/cc.7.14.6275.<\/p>

99\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Xing J, Zhang Y, Han K et al.<\/em> Mobile elements create structural variation: analysis of a complete human genome. Genome research.<\/em> 2009;19(9): 1516-1526. doi:10.1101\/gr.091827.109.<\/p>

100\u00a0\u00a0\u00a0\u00a0\u00a0 Cordaux R, Hedges DJ, Herke SW et al.<\/em> Estimating the retrotransposition rate of human Alu elements. Gene.<\/em> 2006;373(134-137. doi:10.1016\/j.gene.2006.01.019.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"

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