作者
Kenneth K Lee, Tokuko Haraguchi, Richard S Lee, Takako Koujin, Yasushi Hiraoka, Katherine L Wilson
发表日期
2001/12/15
期刊
Journal of cell science
卷号
114
期号
24
页码范围
4567-4573
出版商
Company of Biologists
简介
Loss of emerin, a lamin-binding nuclear membrane protein, causes Emery-Dreifuss muscular dystrophy. We analyzed 13 site-directed mutations, and four disease-causing mutations that do not disrupt emerin stability or localization. We show that emerin binds directly to barrier-to-autointegration factor (BAF), a DNA-bridging protein, and that this binding to BAF requires conserved residues in the LEM-motif of emerin. Emerin has two distinct functional domains: the LEM-domain at the N-terminus, which mediates binding to BAF, and a second functional domain in the central region, which mediates binding to lamin A. Disease mutation Δ95-99 mapped to the lamin-binding domain and disrupted lamin A binding in vitro. Two other disease-linked residues, Ser54 and Pro183, mapped outside the BAF and lamin-binding domains, suggesting that emerin may have additional functional domains relevant to disease …
引用总数
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KK Lee, T Haraguchi, RS Lee, T Koujin, Y Hiraoka… - Journal of cell science, 2001