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    宋晓元

    • 教授 博士生导师 硕士生导师
    • 教师英文名称:Xiaoyuan Song
    • 教师拼音名称:songxiaoyuan
    • 电子邮箱:
    • 学历:博士研究生毕业
    • 办公地点:中国科学技术大学西校区科技东楼915
    • 学位:博士
    • 毕业院校:美国罗彻斯特大学
    • 学科:生物学
    • 2022-10-01曾获荣誉当选:“典赞 2022科普安徽”科普活动“年度科普作品”
    • 2021-05-01曾获荣誉当选:安徽省优秀科普作品一等奖
    • 2019-09-16曾获荣誉当选:王宽诚育才奖

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    A long noncoding RNA cluster-based genomic locus maintains proper development and visual function.

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    DOI码:10.1093/nar/gkz444

    发表刊物:Nucleic Acids Research

    摘要:Long noncoding RNAs (lncRNAs) represent a group of regulatory RNAs that play critical roles in numerous cellular events, but their functional importance in development remains largely unexplored. Here, we discovered a series of previously unidentified gene clusters harboring conserved lncRNAs at the nonimprinting regions in brain (CNIBs). Among the seven identified CNIBs, human CNIB1 locus is located at Chr 9q33.3 and conserved from Danio rerio to Homo sapiens. Chr 9q33.3-9q34.11 microdeletion has previously been linked to human nail-patella syndrome (NPS) which is frequently accompanied by developmental and visual deficiencies. By generating CNIB1 deletion alleles in zebrafish, we demonstrated the requirement of CNIB1 for proper growth and development, and visual activities. Furthermore, we found that the role of CNIB1 on visual activity is mediated through a regulator of ocular development-lmx1bb. Collectively, our study shows that CNIB1 lncRNAs are important for zebrafish development and provides an lncRNA cluster-mediated pathophysiological mechanism for human Chr 9q33.3-9q34.11 microdeletion syndrome.

    卷号:47

    期号:12

    页面范围:6315-6329

    是否译文:

    发表时间:2019-07-09