AJHG: 复旦大学王磊课题组发现人类早期胚胎停育致病基因

2016-08-20 佚名 生物探索

2016年8月19日,国际著名遗传学杂志《美国人类遗传学杂志》(The American Journal of Human Genetics)在线发表了复旦大学生命科学学院,遗传工程国家重点实验室及遗传与发育协同创新中心PI王磊课题组的最新研究成果。早期胚胎停育是导致妊娠建立失败的重要原因。关于此表型的遗传因素所知甚少,国际上仅发现一个基因的突变与此表型相关。胚胎基因组激活(Embryonic G


2016年8月19日,国际著名遗传学杂志《美国人类遗传学杂志》(The American Journal of Human Genetics)在线发表了复旦大学生命科学学院,遗传工程国家重点实验室及遗传与发育协同创新中心PI王磊课题组的最新研究成果。

早期胚胎停育是导致妊娠建立失败的重要原因。关于此表型的遗传因素所知甚少,国际上仅发现一个基因的突变与此表型相关。胚胎基因组激活(Embryonic Genome Activation, ZGA)是胚胎正常发育的关键分子事件,之前尚未发现任何基因突变致胚胎基因组激活异常。本研究中,在3个隐性遗传家系中,研究者发现了PAID6基因的纯合及复杂合突变。PADI6蛋白为皮质母源复合体(Subcortical Maternal Complex, SCMC)的重要组成部分,皮质母源复合体多个成员的基因敲除鼠模型已表现为早期胚胎停育的表型。

研究者通过免疫荧光及基因表达实验证明了:患者胚胎中的磷酸化RNA聚合酶II活性显著降低及多个与胚胎基因组激活过程相关的基因表达显示下降。结果揭示了:PADI6基因突变通过破坏胚胎基因组激活过程,导致人类胚胎早期停育。PADI6基因也是首个被发现的影响人类胚胎基因组激活过程的基因。研究成果为早期胚胎停育机制的认识及相应疾病的精确诊断向前推进了一步。

复旦大学生物医学研究院博士研究生胥尧、复旦大学附属妇产科医院集爱遗传与不育诊疗中心史颖莉、伏静及余敏为本研究的共同第一作者,复旦大学附属妇产科医院集爱遗传与不育诊疗中心孙晓溪教授为共同通讯作者之一。上海交通大学附属第九人民医院生殖中心匡延平教授团队也参与了该研究。该研究得到了国家生殖健康与出生缺陷重点专项、科技部973计划及国家自然科学基金委员会的项目资助。

王磊课题组近年围绕女性生殖疾病的遗传机制进行了一系列研究,相关工作相继发表在N Engl J Med, Am J Hum Genet, Hum Mol Genet, J Med Genet, J Clin Endocrinol Metab,Hum Genet等国际期刊,为女性生殖疾病及表型的认识及研究提供了新知识,新思路与新角度。

原始出处

Yao Xu1, 2, 3, 8, Yingli Shi4, 8, Jing Fu4, 8, Min Yu4, 8, Ruizhi Feng1, 2, 3, Qing Sang1, 2, 3, Bo Liang5, Biaobang Chen1, 2, 3, Ronggui Qu1, 2, 3, Bin Li6, Zheng Yan6, Xiaoyan Mao6, Yanping Kuang6, Li Jin2, Lin He3, 7, Xiaoxi Sun4, , , Lei Wang.Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest.AJHG.2016

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    2016-08-26 李东泽

    这篇资讯写的真好,带给我们新知识,启发新思维,不论是科研还是临床工作都有很大的帮助。。。

    0

  3. 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CST 2016, time=2016-08-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=101901, encodeId=c67f101901f8, content=;, beContent=null, objectType=article, channel=null, level=null, likeNumber=28, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3zSn0GqHrsfLIhnsqwibBAUWCDH3k3jbSn8JGpezRE7ibicXRibRVkUMGAuIbTvzFxiaj4fpBEaJKs4cjXGxqibvmXReB/0, createdBy=17c91919064, createdName=wxsessiona4b9f6cb, createdTime=Sun Aug 21 12:32:00 CST 2016, time=2016-08-21, status=1, ipAttribution=)]
    2016-08-26 李东泽

    这篇资讯写的真好,带给我们新知识,启发新思维,不论是科研还是临床工作都有很大的帮助。。。

    0

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level=null, likeNumber=64, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cdnapi.center.medsci.cn/medsci/head/2017/04/21/72142930668371951a41ef4ea4b233e6.jpg, createdBy=dcbc1715228, createdName=刘煜, createdTime=Tue Aug 23 07:11:00 CST 2016, time=2016-08-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=102207, encodeId=212610220e9c, content=不错,学习了!, beContent=null, objectType=article, channel=null, level=null, likeNumber=63, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160821/IMG57B9667502B1F9208.jpg, createdBy=7a291940143, createdName=茶马古道, createdTime=Mon Aug 22 10:31:00 CST 2016, time=2016-08-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1538475, encodeId=faa515384e5bd, content=<a href='/topic/show?id=751e42660f1' target=_blank 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CST 2016, time=2016-08-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=101901, encodeId=c67f101901f8, content=;, beContent=null, objectType=article, channel=null, level=null, likeNumber=28, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3zSn0GqHrsfLIhnsqwibBAUWCDH3k3jbSn8JGpezRE7ibicXRibRVkUMGAuIbTvzFxiaj4fpBEaJKs4cjXGxqibvmXReB/0, createdBy=17c91919064, createdName=wxsessiona4b9f6cb, createdTime=Sun Aug 21 12:32:00 CST 2016, time=2016-08-21, status=1, ipAttribution=)]
    2016-08-23 刘煜

    阅读了。

    0

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CST 2016, time=2016-08-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=101901, encodeId=c67f101901f8, content=;, beContent=null, objectType=article, channel=null, level=null, likeNumber=28, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3zSn0GqHrsfLIhnsqwibBAUWCDH3k3jbSn8JGpezRE7ibicXRibRVkUMGAuIbTvzFxiaj4fpBEaJKs4cjXGxqibvmXReB/0, createdBy=17c91919064, createdName=wxsessiona4b9f6cb, createdTime=Sun Aug 21 12:32:00 CST 2016, time=2016-08-21, status=1, ipAttribution=)]
    2016-08-22 茶马古道

    不错,学习了!

    0

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CST 2016, time=2016-08-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=101901, encodeId=c67f101901f8, content=;, beContent=null, objectType=article, channel=null, level=null, likeNumber=28, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3zSn0GqHrsfLIhnsqwibBAUWCDH3k3jbSn8JGpezRE7ibicXRibRVkUMGAuIbTvzFxiaj4fpBEaJKs4cjXGxqibvmXReB/0, createdBy=17c91919064, createdName=wxsessiona4b9f6cb, createdTime=Sun Aug 21 12:32:00 CST 2016, time=2016-08-21, status=1, ipAttribution=)]
    2016-08-22 saikp
  7. 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createdAvatar=https://wx.qlogo.cn/mmopen/jW482SpianMayicTRbRZ5RzUn81b5CF5ibVPib8jWI92iciaxmqGHlwruOnK4SVZykd4iahqo1hicklIibyZoxm55X7EM8BW9eX1h1hQ2/0, createdBy=8aa81937526, createdName=李东泽, createdTime=Fri Aug 26 10:47:00 CST 2016, time=2016-08-26, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=103950, encodeId=bcc11039500c, content=这篇资讯写的真好,带给我们新知识,启发新思维,不论是科研还是临床工作都有很大的帮助。。。, beContent=null, objectType=article, channel=null, level=null, likeNumber=59, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/jW482SpianMayicTRbRZ5RzUn81b5CF5ibVPib8jWI92iciaxmqGHlwruOnK4SVZykd4iahqo1hicklIibyZoxm55X7EM8BW9eX1h1hQ2/0, createdBy=8aa81937526, createdName=李东泽, createdTime=Fri Aug 26 00:58:00 CST 2016, time=2016-08-26, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=102472, encodeId=1aef1024e279, content=阅读了。, beContent=null, objectType=article, channel=null, level=null, likeNumber=64, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cdnapi.center.medsci.cn/medsci/head/2017/04/21/72142930668371951a41ef4ea4b233e6.jpg, createdBy=dcbc1715228, createdName=刘煜, createdTime=Tue Aug 23 07:11:00 CST 2016, time=2016-08-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=102207, encodeId=212610220e9c, content=不错,学习了!, beContent=null, objectType=article, channel=null, level=null, likeNumber=63, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160821/IMG57B9667502B1F9208.jpg, createdBy=7a291940143, createdName=茶马古道, createdTime=Mon Aug 22 10:31:00 CST 2016, time=2016-08-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1538475, encodeId=faa515384e5bd, content=<a href='/topic/show?id=751e42660f1' target=_blank style='color:#2F92EE;'>#复旦#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=42660, encryptionId=751e42660f1, topicName=复旦)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=e6c312994908, createdName=saikp, createdTime=Mon Aug 22 02:16:00 CST 2016, time=2016-08-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1488503, encodeId=5a6a148850338, content=<a href='/topic/show?id=b569864e51e' target=_blank style='color:#2F92EE;'>#致病基因#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=34, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=86475, encryptionId=b569864e51e, topicName=致病基因)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=6d1a8427162, createdName=wfang548, createdTime=Mon Aug 22 02:16:00 CST 2016, time=2016-08-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1315293, encodeId=53871315293b9, content=<a href='/topic/show?id=6fcc83e0554' target=_blank style='color:#2F92EE;'>#胚胎#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=22, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=83705, encryptionId=6fcc83e0554, topicName=胚胎)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=6393434, createdName=ailian1202, createdTime=Mon Aug 22 02:16:00 CST 2016, time=2016-08-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=101916, encodeId=c794101916b7, content=这个学术可以支持!!!, beContent=null, objectType=article, channel=null, level=null, likeNumber=48, 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=Sun Aug 21 12:58:00 CST 2016, time=2016-08-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=101901, encodeId=c67f101901f8, content=;, beContent=null, objectType=article, channel=null, level=null, likeNumber=28, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3zSn0GqHrsfLIhnsqwibBAUWCDH3k3jbSn8JGpezRE7ibicXRibRVkUMGAuIbTvzFxiaj4fpBEaJKs4cjXGxqibvmXReB/0, createdBy=17c91919064, createdName=wxsessiona4b9f6cb, createdTime=Sun Aug 21 12:32:00 CST 2016, time=2016-08-21, status=1, ipAttribution=)]
  8. 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level=null, likeNumber=64, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cdnapi.center.medsci.cn/medsci/head/2017/04/21/72142930668371951a41ef4ea4b233e6.jpg, createdBy=dcbc1715228, createdName=刘煜, createdTime=Tue Aug 23 07:11:00 CST 2016, time=2016-08-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=102207, encodeId=212610220e9c, content=不错,学习了!, beContent=null, objectType=article, channel=null, level=null, likeNumber=63, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160821/IMG57B9667502B1F9208.jpg, createdBy=7a291940143, createdName=茶马古道, createdTime=Mon Aug 22 10:31:00 CST 2016, time=2016-08-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1538475, encodeId=faa515384e5bd, content=<a href='/topic/show?id=751e42660f1' target=_blank style='color:#2F92EE;'>#复旦#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=42660, encryptionId=751e42660f1, topicName=复旦)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=e6c312994908, createdName=saikp, createdTime=Mon Aug 22 02:16:00 CST 2016, time=2016-08-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1488503, encodeId=5a6a148850338, content=<a href='/topic/show?id=b569864e51e' target=_blank style='color:#2F92EE;'>#致病基因#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=34, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=86475, encryptionId=b569864e51e, topicName=致病基因)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=6d1a8427162, createdName=wfang548, createdTime=Mon Aug 22 02:16:00 CST 2016, time=2016-08-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1315293, encodeId=53871315293b9, content=<a href='/topic/show?id=6fcc83e0554' target=_blank style='color:#2F92EE;'>#胚胎#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=22, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=83705, encryptionId=6fcc83e0554, topicName=胚胎)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=6393434, createdName=ailian1202, createdTime=Mon Aug 22 02:16:00 CST 2016, time=2016-08-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=101916, encodeId=c794101916b7, content=这个学术可以支持!!!, beContent=null, objectType=article, channel=null, level=null, likeNumber=48, 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=Sun Aug 21 12:58:00 CST 2016, time=2016-08-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=101901, encodeId=c67f101901f8, content=;, beContent=null, objectType=article, channel=null, level=null, likeNumber=28, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3zSn0GqHrsfLIhnsqwibBAUWCDH3k3jbSn8JGpezRE7ibicXRibRVkUMGAuIbTvzFxiaj4fpBEaJKs4cjXGxqibvmXReB/0, createdBy=17c91919064, createdName=wxsessiona4b9f6cb, createdTime=Sun Aug 21 12:32:00 CST 2016, time=2016-08-21, status=1, ipAttribution=)]
    2016-08-22 ailian1202
  9. 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level=null, likeNumber=64, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cdnapi.center.medsci.cn/medsci/head/2017/04/21/72142930668371951a41ef4ea4b233e6.jpg, createdBy=dcbc1715228, createdName=刘煜, createdTime=Tue Aug 23 07:11:00 CST 2016, time=2016-08-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=102207, encodeId=212610220e9c, content=不错,学习了!, beContent=null, objectType=article, channel=null, level=null, likeNumber=63, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://cacheapi.medsci.cn/resource/upload/20160821/IMG57B9667502B1F9208.jpg, createdBy=7a291940143, createdName=茶马古道, createdTime=Mon Aug 22 10:31:00 CST 2016, time=2016-08-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1538475, encodeId=faa515384e5bd, content=<a href='/topic/show?id=751e42660f1' target=_blank style='color:#2F92EE;'>#复旦#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=25, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=42660, encryptionId=751e42660f1, topicName=复旦)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=e6c312994908, createdName=saikp, createdTime=Mon Aug 22 02:16:00 CST 2016, time=2016-08-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1488503, encodeId=5a6a148850338, content=<a href='/topic/show?id=b569864e51e' target=_blank style='color:#2F92EE;'>#致病基因#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=34, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=86475, encryptionId=b569864e51e, topicName=致病基因)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=6d1a8427162, createdName=wfang548, createdTime=Mon Aug 22 02:16:00 CST 2016, time=2016-08-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1315293, encodeId=53871315293b9, content=<a href='/topic/show?id=6fcc83e0554' target=_blank style='color:#2F92EE;'>#胚胎#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=22, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=83705, encryptionId=6fcc83e0554, topicName=胚胎)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=6393434, createdName=ailian1202, createdTime=Mon Aug 22 02:16:00 CST 2016, time=2016-08-22, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=101916, encodeId=c794101916b7, content=这个学术可以支持!!!, beContent=null, objectType=article, channel=null, level=null, likeNumber=48, 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=Sun Aug 21 12:58:00 CST 2016, time=2016-08-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=101901, encodeId=c67f101901f8, content=;, beContent=null, objectType=article, channel=null, level=null, likeNumber=28, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3zSn0GqHrsfLIhnsqwibBAUWCDH3k3jbSn8JGpezRE7ibicXRibRVkUMGAuIbTvzFxiaj4fpBEaJKs4cjXGxqibvmXReB/0, createdBy=17c91919064, createdName=wxsessiona4b9f6cb, createdTime=Sun Aug 21 12:32:00 CST 2016, time=2016-08-21, status=1, ipAttribution=)]
    2016-08-21 1e0d99ddm02(暂无匿称)

    这个学术可以支持!!!

    0

  10. 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