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Nat Commun：重磅！科学家成功绘制出人类DNA中的“暗物质”信息

2016-10-09 佚名 生物谷

人类DNA
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图片来源：medicalxpress.com 最近，一项刊登于国际杂志Nature Communications上的研究论文中，来自西安交通大学、萨尔兰大学等机构的研究人员通过研究在深入理解人类基因组上取得了突破性的进展，在250个荷兰家庭中鉴别出大型的DNA突变后，研究人员发现了基因组中部分DNA“暗物质”，相关研究或可帮助全球的研究人员对DNA突变体进行研究，并且利用相关研究结果更好地理

图片来源：medicalxpress.com

最近，一项刊登于国际杂志Nature Communications上的研究论文中，来自西安交通大学、萨尔兰大学等机构的研究人员通过研究在深入理解人类基因组上取得了突破性的进展，在250个荷兰家庭中鉴别出大型的DNA突变后，研究人员发现了基因组中部分DNA“暗物质”，相关研究或可帮助全球的研究人员对DNA突变体进行研究，并且利用相关研究结果更好地理解遗传性疾病的发生机制。

尽管我们对人类DNA有了很广泛地理解，但其实并不完全，这项研究中，研究人员通过对比250个健康的荷兰家庭中家庭成员的机体DNA信息，他们鉴别出了190万个影响多个DNA元件的突变，这些突变包括已经消失、移动、甚至凭空出现的大型DNA片段，如果这种状况发生在编码特殊蛋白的基因的中间位置，就很有可能会影响该基因的功能以及其所编码的蛋白质，然而大型的结构性突变通常仅仅发生在基因编码部分之前或之后的位置，而这种类型的突变往往很难进行预测。

这项研究中，研究者两次描述了他们在基因编码区域之外发现了额外的DNA片段，在这些情况下，这些突变体往往会对基因的调节产生一种显而易见的影响，这就证明，甚至是发生在基因编码区域之外的结构性突变都需要进行紧密地监控，而本文研究所提供的突变体目录则能够帮助其它科学家来预测大型结构性突变的发生，而研究者所开发的技术或许也可以帮助研究人类机体基因组中大型结构性改变所产生的效应。

此外，这项研究中研究者还发现，大部分的DNA或许并不包含于所参考的基因组中，而额外的DNA却包含着能够参与蛋白质合成的结构元件，研究者在文章中描述的一种额外的DNA片段就是名为“ZNF”的基因，此前研究者并未在人类机体中发现该基因，尽管如此，该基因在大约一半的荷兰人口中存在，而这种特殊的基因是ZNF基因家族的成员之一，该基因家族来源于多个种类猿类机体的参考基因组中，而这种突变体也能够添加到人类的参考基因组数据库中；随后研究人员通过研究发现，ZNF基因或许还在多个人类群体的基因组中存在，但其功能却并不清楚，实际上这种基因组“暗物质”如今能够被放置到遗传图谱中来帮助科学家们进行研究，并且利用相关的研究数据来更好地理解人类遗传性疾病发生的机制。

这项研究是荷兰基因组研究计划（GoNL计划）的一部分，这项研究的一个主要目的就是绘制荷兰人群机体的基因组图谱以及所有的突变体图谱，目前来自全球多个国家的生物信息学研究团队正在研究数据分析的新算法，同时他们还将开发出创新性的方法来结合当前的算法，研究者们希望能够清楚地阐明荷兰人群的基因组特性，并未后期进行人类遗传性疾病研究以及新型个体化疗法的开发提供新的思路和坚实的基础。

原始出处

Jayne Y. Hehir-Kwa, Tobias Marschall, Wigard P. Kloosterman, Laurent C. Francioli, Jasmijn A. Baaijens, Louis J. Dijkstra, Abdel Abdellaoui.et.al.A high-quality human reference panel reveals the complexity and distribution of genomic structural variants.Nat Commun.2016

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    2017-07-25 liuli5079

    #COMMUN#

    0

  2. [GetPortalCommentsPageByObjectIdResponse(id=2086907, encodeId=25cc208690e34, content=<a href='/topic/show?id=490750196b' target=_blank style='color:#2F92EE;'>#COMMUN#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=20, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5019, encryptionId=490750196b, topicName=COMMUN)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7931272, createdName=liuli5079, createdTime=Tue Jul 25 14:59:00 CST 2017, time=2017-07-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1881364, encodeId=a2ae188136466, content=<a href='/topic/show?id=3b2112532d8' target=_blank style='color:#2F92EE;'>#Nat#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=18, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=12532, encryptionId=3b2112532d8, topicName=Nat)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=2e6f107, createdName=liye789132251, createdTime=Fri Jun 30 13:59:00 CST 2017, time=2017-06-30, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1548913, encodeId=de9a15489135f, content=<a href='/topic/show?id=f7879600061' target=_blank style='color:#2F92EE;'>#重磅#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=26, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=96000, encryptionId=f7879600061, topicName=重磅)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=3acc14121561, createdName=xxxx1054, createdTime=Tue Oct 11 03:59:00 CST 2016, time=2016-10-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=143774, encodeId=3fec143e7403, content=总结的很好！, beContent=null, objectType=article, channel=null, level=null, likeNumber=34, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160817/IMG57B3C3F6DC2FD8753.jpg, createdBy=81321934679, createdName=1e0d99ddm02(暂无匿称), createdTime=Mon Oct 10 22:03:17 CST 2016, time=2016-10-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=143773, encodeId=d8b8143e73a4, content=分享一下！, beContent=null, objectType=article, channel=null, level=null, likeNumber=44, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160817/IMG57B3C3F6DC2FD8753.jpg, createdBy=81321934679, createdName=1e0d99ddm02(暂无匿称), createdTime=Mon Oct 10 22:03:10 CST 2016, time=2016-10-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=143477, encodeId=8f731434e753, content=继续关注！, beContent=null, objectType=article, channel=null, level=null, likeNumber=39, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160811/IMG57AC91915ACA64463.jpg, createdBy=9c351934462, createdName=知难而进, createdTime=Mon Oct 10 19:21:16 CST 2016, time=2016-10-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=143475, encodeId=44651434e5db, content=谢谢分享！, beContent=null, objectType=article, channel=null, level=null, likeNumber=42, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160811/IMG57AC91915ACA64463.jpg, createdBy=9c351934462, createdName=知难而进, createdTime=Mon Oct 10 19:21:09 CST 2016, time=2016-10-10, status=1, ipAttribution=)]
    2017-06-30 liye789132251

    #Nat#

    0

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    2016-10-11 xxxx1054

    #重磅#

    0

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    2016-10-10 1e0d99ddm02(暂无匿称)

    总结的很好！

    0

  5. [GetPortalCommentsPageByObjectIdResponse(id=2086907, encodeId=25cc208690e34, content=<a href='/topic/show?id=490750196b' target=_blank style='color:#2F92EE;'>#COMMUN#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=20, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5019, encryptionId=490750196b, topicName=COMMUN)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7931272, createdName=liuli5079, createdTime=Tue Jul 25 14:59:00 CST 2017, time=2017-07-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1881364, encodeId=a2ae188136466, content=<a href='/topic/show?id=3b2112532d8' target=_blank style='color:#2F92EE;'>#Nat#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=18, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=12532, encryptionId=3b2112532d8, topicName=Nat)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=2e6f107, createdName=liye789132251, createdTime=Fri Jun 30 13:59:00 CST 2017, time=2017-06-30, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1548913, encodeId=de9a15489135f, content=<a href='/topic/show?id=f7879600061' target=_blank style='color:#2F92EE;'>#重磅#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=26, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=96000, encryptionId=f7879600061, topicName=重磅)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=3acc14121561, createdName=xxxx1054, createdTime=Tue Oct 11 03:59:00 CST 2016, time=2016-10-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=143774, encodeId=3fec143e7403, content=总结的很好！, beContent=null, objectType=article, channel=null, level=null, likeNumber=34, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160817/IMG57B3C3F6DC2FD8753.jpg, createdBy=81321934679, createdName=1e0d99ddm02(暂无匿称), createdTime=Mon Oct 10 22:03:17 CST 2016, time=2016-10-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=143773, encodeId=d8b8143e73a4, content=分享一下！, beContent=null, objectType=article, channel=null, level=null, likeNumber=44, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160817/IMG57B3C3F6DC2FD8753.jpg, createdBy=81321934679, createdName=1e0d99ddm02(暂无匿称), createdTime=Mon Oct 10 22:03:10 CST 2016, time=2016-10-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=143477, encodeId=8f731434e753, content=继续关注！, beContent=null, objectType=article, channel=null, level=null, likeNumber=39, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160811/IMG57AC91915ACA64463.jpg, createdBy=9c351934462, createdName=知难而进, createdTime=Mon Oct 10 19:21:16 CST 2016, time=2016-10-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=143475, encodeId=44651434e5db, content=谢谢分享！, beContent=null, objectType=article, channel=null, level=null, likeNumber=42, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160811/IMG57AC91915ACA64463.jpg, createdBy=9c351934462, createdName=知难而进, createdTime=Mon Oct 10 19:21:09 CST 2016, time=2016-10-10, status=1, ipAttribution=)]
    2016-10-10 1e0d99ddm02(暂无匿称)

    分享一下！

    0

  6. [GetPortalCommentsPageByObjectIdResponse(id=2086907, encodeId=25cc208690e34, content=<a href='/topic/show?id=490750196b' target=_blank style='color:#2F92EE;'>#COMMUN#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=20, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5019, encryptionId=490750196b, topicName=COMMUN)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7931272, createdName=liuli5079, createdTime=Tue Jul 25 14:59:00 CST 2017, time=2017-07-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1881364, encodeId=a2ae188136466, content=<a href='/topic/show?id=3b2112532d8' target=_blank style='color:#2F92EE;'>#Nat#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=18, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=12532, encryptionId=3b2112532d8, topicName=Nat)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=2e6f107, createdName=liye789132251, createdTime=Fri Jun 30 13:59:00 CST 2017, time=2017-06-30, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1548913, encodeId=de9a15489135f, content=<a href='/topic/show?id=f7879600061' target=_blank style='color:#2F92EE;'>#重磅#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=26, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=96000, encryptionId=f7879600061, topicName=重磅)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=3acc14121561, createdName=xxxx1054, createdTime=Tue Oct 11 03:59:00 CST 2016, time=2016-10-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=143774, encodeId=3fec143e7403, content=总结的很好！, beContent=null, objectType=article, channel=null, level=null, likeNumber=34, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160817/IMG57B3C3F6DC2FD8753.jpg, createdBy=81321934679, createdName=1e0d99ddm02(暂无匿称), createdTime=Mon Oct 10 22:03:17 CST 2016, time=2016-10-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=143773, encodeId=d8b8143e73a4, content=分享一下！, beContent=null, objectType=article, channel=null, level=null, likeNumber=44, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160817/IMG57B3C3F6DC2FD8753.jpg, createdBy=81321934679, createdName=1e0d99ddm02(暂无匿称), createdTime=Mon Oct 10 22:03:10 CST 2016, time=2016-10-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=143477, encodeId=8f731434e753, content=继续关注！, beContent=null, objectType=article, channel=null, level=null, likeNumber=39, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160811/IMG57AC91915ACA64463.jpg, createdBy=9c351934462, createdName=知难而进, createdTime=Mon Oct 10 19:21:16 CST 2016, time=2016-10-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=143475, encodeId=44651434e5db, content=谢谢分享！, beContent=null, objectType=article, channel=null, level=null, likeNumber=42, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160811/IMG57AC91915ACA64463.jpg, createdBy=9c351934462, createdName=知难而进, createdTime=Mon Oct 10 19:21:09 CST 2016, time=2016-10-10, status=1, ipAttribution=)]
    2016-10-10 知难而进

    继续关注！

    0

  7. [GetPortalCommentsPageByObjectIdResponse(id=2086907, encodeId=25cc208690e34, content=<a href='/topic/show?id=490750196b' target=_blank style='color:#2F92EE;'>#COMMUN#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=20, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5019, encryptionId=490750196b, topicName=COMMUN)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7931272, createdName=liuli5079, createdTime=Tue Jul 25 14:59:00 CST 2017, time=2017-07-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1881364, encodeId=a2ae188136466, content=<a href='/topic/show?id=3b2112532d8' target=_blank style='color:#2F92EE;'>#Nat#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=18, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=12532, encryptionId=3b2112532d8, topicName=Nat)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=2e6f107, createdName=liye789132251, createdTime=Fri Jun 30 13:59:00 CST 2017, time=2017-06-30, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1548913, encodeId=de9a15489135f, content=<a href='/topic/show?id=f7879600061' target=_blank style='color:#2F92EE;'>#重磅#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=26, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=96000, encryptionId=f7879600061, topicName=重磅)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=3acc14121561, createdName=xxxx1054, createdTime=Tue Oct 11 03:59:00 CST 2016, time=2016-10-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=143774, encodeId=3fec143e7403, content=总结的很好！, beContent=null, objectType=article, channel=null, level=null, likeNumber=34, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160817/IMG57B3C3F6DC2FD8753.jpg, createdBy=81321934679, createdName=1e0d99ddm02(暂无匿称), createdTime=Mon Oct 10 22:03:17 CST 2016, time=2016-10-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=143773, encodeId=d8b8143e73a4, content=分享一下！, beContent=null, objectType=article, channel=null, level=null, likeNumber=44, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160817/IMG57B3C3F6DC2FD8753.jpg, createdBy=81321934679, createdName=1e0d99ddm02(暂无匿称), createdTime=Mon Oct 10 22:03:10 CST 2016, time=2016-10-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=143477, encodeId=8f731434e753, content=继续关注！, beContent=null, objectType=article, channel=null, level=null, likeNumber=39, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160811/IMG57AC91915ACA64463.jpg, createdBy=9c351934462, createdName=知难而进, createdTime=Mon Oct 10 19:21:16 CST 2016, time=2016-10-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=143475, encodeId=44651434e5db, content=谢谢分享！, beContent=null, objectType=article, channel=null, level=null, likeNumber=42, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160811/IMG57AC91915ACA64463.jpg, createdBy=9c351934462, createdName=知难而进, createdTime=Mon Oct 10 19:21:09 CST 2016, time=2016-10-10, status=1, ipAttribution=)]
    2016-10-10 知难而进

    谢谢分享！

    0