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访谈:从唐氏综合征到基础表观遗传学,再回归原点

Interview: from Down's syndrome to basic epigenetics and back again.

作者信息

Lawrence Jeanne, Telfer Caroline

机构信息

Department of Cell & Developmental Biology, University of Massachusetts Medical School, 55 Lake Avenue North, Worcester, MA 01655, USA.

出版信息

Epigenomics. 2013 Dec;5(6):611-4. doi: 10.2217/epi.13.71.

Abstract

Dr Jeanne Lawrence talks to Caroline Telfer, Commissioning Editor. Dr Jeanne Lawrence is an internationally recognized leader in the study of chromosome regulation by noncoding RNA and nuclear and genome organization. Her research bridges fundamental questions about genome regulation with clinical implications of recent advances in epigenetics. Her interest in chromosome structure and regulation has been a theme throughout her career and she has been honored for her work developing sensitive FISH technology for the detection of single copy genes, as well as RNAs. Her laboratory's publications include the initial demonstration of cell type-specific gene organization with nuclear subdomains; the novel biology of a noncoding RNA, XIST, which coats a whole X-chromosome to induce its silencing; and a new architectural role for a large noncoding RNA to scaffold a nuclear body. Her laboratory's work on epigenetic chromosome regulation in stem cells led to recent studies regarding unanticipated roles of repeat sequences in normal chromosome regulation and deregulation in cancer. Most recently, her laboratory has demonstrated a new approach to translate the basic mechanism of X-chromosome inactivation to correct a chromosomal dosage imbalance in patient-derived cells with trisomy 21 (Down's syndrome). Dr Lawrence has received awards from numerous agencies, including a Research Career Development Award from the National Center for Human Genome Research, career awards from the American Society of Cell Biology, the German Society for Biochemistry, the Muscular Dystrophy Association and a John Merck Fund Translational Research Award. She has served on the NIH National Advisory Council for Human Genome Research, numerous study sections and is currently a monitoring editor for the Journal of Cell Biology. Dr Lawrence has a BA in Biology and Music from Stephens College (MO, USA), a MS in Human Genetics and Genetic Counseling from Rutgers University (NJ, USA) and a PhD in Developmental Biology from Brown University (RI, USA). She is currently a Professor and Interim Chair of the Department of Cell and Developmental Biology at the University of Massachusetts Medical School (MA, USA).

摘要

珍妮·劳伦斯博士与特约编辑卡罗琳·特尔弗进行了交谈。珍妮·劳伦斯博士是国际公认的非编码RNA与细胞核及基因组组织染色体调控研究领域的领军人物。她的研究将有关基因组调控的基础问题与表观遗传学最新进展的临床意义联系起来。她对染色体结构和调控的兴趣贯穿了她的整个职业生涯,她因开发用于检测单拷贝基因以及RNA的灵敏荧光原位杂交技术而受到表彰。她实验室的出版物包括首次证明细胞类型特异性基因与核亚结构域的组织关系;一种非编码RNA——XIST的新生物学特性,它覆盖整条X染色体以诱导其沉默;以及一种大型非编码RNA在构建核体方面的新结构作用。她实验室关于干细胞中表观遗传染色体调控的工作导致了近期有关重复序列在正常染色体调控中的意外作用以及在癌症中失调的研究。最近,她的实验室展示了一种新方法,即将X染色体失活的基本机制转化用于纠正21三体综合征(唐氏综合征)患者来源细胞中的染色体剂量失衡。劳伦斯博士获得了众多机构的奖项,包括国家人类基因组研究中心的研究职业发展奖、美国细胞生物学学会、德国生物化学学会、肌肉萎缩症协会的职业奖以及约翰·默克基金转化研究奖。她曾在国立卫生研究院人类基因组研究国家咨询委员会任职,参与了众多研究小组,目前是《细胞生物学杂志》的监测编辑。劳伦斯博士拥有美国密苏里州斯蒂芬斯学院的生物学和音乐学士学位、美国新泽西州罗格斯大学的人类遗传学和遗传咨询硕士学位以及美国罗德岛州布朗大学的发育生物学博士学位。她目前是美国马萨诸塞大学医学院细胞与发育生物学系教授及临时系主任。

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