表观遗传学——耳聋研究的新视野

doi:10.3724/SP.J.1005.2012.00253

遗传 ›› 2012, Vol. 34 ›› Issue (3): 253-259.doi: 10.3724/SP.J.1005.2012.00253

• 综述 • 下一篇

表观遗传学——耳聋研究的新视野

许飞¹ , 王慧君² , 马端^1,2,3

1. 复旦大学上海医学院分子医学教育部重点实验室, 上海 200032 2. 复旦大学附属儿科医院, 上海 201102 3. 复旦大学生物医学研究院, 复旦大学出生缺陷研究中心, 上海 200032

收稿日期:2011-10-28 修回日期:2011-11-08 出版日期:2012-03-20 发布日期:2012-03-25
通讯作者: 王慧君 E-mail:huijunwang@fudan.edu.cn
基金资助:
国家重点基础研究发展计划(973计划)(编号：2011CB504502)和上海科委重大基础研究项目(编号:09DJ1400601)资助

Epigenetics-A new perspective for the study of deafness

XU Fei¹, WANG Hui-Jun², MA Duan^1,2,3

1. Key Laboratory of Molecular Medicine, Ministry of Education, Shanghai Medical College, Fudan University, Shanghai 200032, China 2. Children’s Hospital, Fudan University, Shanghai 201102, China 3. Institutes of Biomedical Sciences, Resaerch Center for Birth Defects, Fudan University, Shanghai 200032, China

Received:2011-10-28 Revised:2011-11-08 Online:2012-03-20 Published:2012-03-25

摘要/Abstract

摘要： 耳聋是一种常见的人类感觉系统缺陷, 新生儿发病率可达1/1000～3/1000。耳蜗感觉神经上皮毛细胞的结构或功能异常可导致耳聋,遗传因素在其中起重要作用。虽然一些与遗传性耳聋相关的基因及染色体位点已经被定位或克隆, 仍有很多耳聋的病因尚不清楚。人们发现, 除了常见的热点基因突变(GJB2、SLC26A4、线粒体DNA C1494T和A1555G等)外, 一些表观遗传学的改变也在耳聋的发生中起重要作用。例如, miR-96 突变会导致人和小鼠的渐进性失聪, 异常的CpG岛甲基化与一些耳聋综合征的发生有关等。文章着重对表观遗传学在耳聋领域的研究现状和进展进行了综述。

关键词: 遗传性耳聋, 表观遗传学, microRNA, DNA甲基化, 组蛋白修饰

Abstract: Hearing loss is the most common sensory disorder in humans. The newborn morbidity is 1/1000～3/1000. In most cases, the cause comes from abnormal development of inner-ear or degeneration of the cochlear hair cells. Genetic factors make a significant contribution to hearing impairment. Some genes and chromosome locus responsible for syndromic or non-syndromic hearing loss have been identified. However, etiology of deafness still remains obscure. In addition to some hot spot mutations (GJB2, SLC26A4, mitochondrial DNA C1494T, A1555G, etc.), epigenetics may also provide a significant contribution to this sensory disease. For example, miR-96 seed region mutations can result in progressive hearing loss in humans and mice, and aberrant CpG methylation has been linked to a few inherited syndromes that can induce hearing loss, etc.. This review aims to summarize the research progress of epigenetics in the fields of hearing and deafness.

Key words: epigenetics, microRNA, DNA methylation, histone modifications, hereditary deafness

许飞，王慧君，马端. 表观遗传学——耳聋研究的新视野[J]. 遗传, 2012, 34(3): 253-259.

XU Fei, WANG Hui-Jun, MA Duan. Epigenetics-A new perspective for the study of deafness[J]. HEREDITAS, 2012, 34(3): 253-259.

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表观遗传学——耳聋研究的新视野

Epigenetics-A new perspective for the study of deafness

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