MeCP2的主要形式具有通过可变剪接产生的新的N末端。
The major form of MeCP2 has a novel N-terminus generated by alternative splicing.
作者信息
Kriaucionis Skirmantas, Bird Adrian
机构信息
Wellcome Trust Centre for Cell Biology, University of Edinburgh, The King's Buildings, Edinburgh EH9 3JR, Scotland, UK.
出版信息
Nucleic Acids Res. 2004 Mar 19;32(5):1818-23. doi: 10.1093/nar/gkh349. Print 2004.
MeCP2 is a methyl-CpG binding protein that can repress transcription of nearby genes. In humans, mutations in the MECP2 gene are the major cause of Rett syndrome. By searching expressed sequence tag (EST) databases we have found a novel MeCP2 splice isoform (MeCP2alpha) which encodes a distinct N-terminus. We demonstrate that the MeCP2alpha mRNA splice variant is more abundant than the previously annotated MeCP2 mRNA (MeCP2beta) in mouse tissues and human brain. Furthermore, MeCP2beta mRNA has an upstream open reading frame that inhibits its translation. As a result of these differences, >90% of MeCP2 in mouse brain is MeCP2alpha. Both protein isoforms are nuclear and colocalize with densely methylated heterochromatic foci in mouse cells. The presence of a previously unknown MeCP2 isoform has implications for the genetic screening of Rett syndrome patients and for studies of the functional significance of MeCP2.
MeCP2是一种甲基化CpG结合蛋白，可抑制附近基因的转录。在人类中，MECP2基因突变是雷特综合征的主要病因。通过搜索表达序列标签（EST）数据库，我们发现了一种新的MeCP2剪接异构体（MeCP2α），其编码一个独特的N端。我们证明，在小鼠组织和人类大脑中，MeCP2α mRNA剪接变体比先前注释的MeCP2 mRNA（MeCP2β）更为丰富。此外，MeCP2β mRNA有一个上游开放阅读框，可抑制其翻译。由于这些差异，小鼠大脑中>90%的MeCP2是MeCP2α。两种蛋白异构体均位于细胞核内，并与小鼠细胞中高度甲基化的异染色质灶共定位。一种先前未知的MeCP2异构体的存在对雷特综合征患者的基因筛查以及MeCP2功能意义的研究具有重要意义。
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