Mammalian genomic imprinting.
Mammalian genomic imprinting.
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DOI：
10.1101/cshperspect.a002592
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发表时间：
2011-07-01
影响因子：
7.2
通讯作者：
Ferguson-Smith, Anne C
中科院分区：
文献类型：
--
作者：
Bartolomei, Marisa S;Ferguson-Smith, Anne C
正常的哺乳动物发育需要母亲和父亲的贡献，这归因于印记基因，或从单个亲本等位基因表达的基因。到目前为止，在哺乳动物中已经报道了大约100个印记基因。印迹基因由顺式作用调控元件控制，称为印迹控制区（ICR），其具有亲本特异性表观遗传修饰，包括DNA甲基化。ICR在生殖系发育期间被从头DNA甲基转移酶甲基化;当基因组被广泛重编程时，这些亲本特异性修饰必须在受精后保持。许多印迹基因存在于1兆碱基的簇中，目前公认的印迹调节的两种主要机制是CTCF依赖的绝缘子和长的非编码RNA。非成簇的印迹基因通常受生殖系来源的差异启动子甲基化调控。在这里，我们描述的识别和印迹基因的功能，顺式作用的控制序列，反式作用的因素，和集群中的印迹机制。最后，我们确定了需要更广泛研究的问题。
Normal mammalian development requires a maternal and paternal contribution, which is attributed to imprinted genes, or genes that are expressed from a single parental allele. Approximately 100 imprinted genes have been reported in mammals thus far. Imprinted genes are controlled by cis-acting regulatory elements, termed imprinting control regions (ICRs), which have parental-specific epigenetic modifications, including DNA methylation. ICRs are methylated by de novo DNA methyltransferases during germline development; these parental-specific modifications must be maintained following fertilization when the genome is extensively reprogrammed. Many imprinted genes reside in 1-megabase clusters, with two major mechanisms of imprinting regulation currently recognized, CTCF-dependent insulators and long noncoding RNAs. Unclustered imprinted genes are generally regulated by germline-derived differential promoter methylation. Here, we describe the identification and functions of imprinted genes, cis-acting control sequences, trans-acting factors, and imprinting mechanisms in clusters. Finally, we define questions that require more extensive research.