Identification and characterization of YME1L1, a novel paraplegin-related gene
Identification and characterization of YME1L1, a novel paraplegin-related gene
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DOI：
10.1006/geno.2000.6136
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发表时间：
2000-05-15
期刊：
影响因子：
4.4
通讯作者：
Incerti, B
中科院分区：
文献类型：
--
作者：
Coppola, M;Pizzigoni, A;Incerti, B
最近发现了一种常染色体隐性遗传性痉挛性截瘫（SPG 7）的基因。该基因编码paraplegin，一种与酵母线粒体AAA蛋白酶Afg 3 p、Rca 1 p和Yme 1 p高度同源的线粒体蛋白，其在线粒体内膜具有蛋白水解和伴侣样活性。通过筛选表达序列标签数据库，我们确定并表征了一个新的人类基因，YME 1 L1（YME 1 L1-like 1，HGMW批准的符号）。该基因编码与所有线粒体AAA蛋白酶，特别是酵母Yme 1 p高度相似的716个氨基酸的预测蛋白。表达和免疫荧光研究表明，YME 1 L1和paraplegin共享一个相似的表达模式和相同的线粒体室亚细胞定位。YME 1 L1可能代表其他形式的遗传性痉挛性截瘫和其他神经退行性疾病的候选基因。(C)北京大学出版社.
A gene responsible for an autosomal recessive form of hereditary spastic paraplegia (SPG7) was recently identified. This gene encodes paraplegin, a mitochondrial protein highly homologous to the yeast mitochondrial AAA proteases Afg3p, Rca1p, and Yme1p, which have both proteolytic and chaperone-like activities at the inner mitochondrial membrane. By screening the expressed sequence tag database, we identified and characterized a novel human gene, YME1L1 (YME1L1-like1, HGMW-approved symbol). This gene encodes a predicted protein of 716 amino acids highly similar to all mitochondrial AAA proteases and in particular to yeast Yme1p. Expression and immunofluorescence studies revealed that YME1L1 and paraplegin share a similar expression pattern and the same subcellular localization in the mitochondrial compartment. YME1L1 may represent a candidate gene for other forms of hereditary spastic paraplegia and possibly for other neurodegenerative disorders. (C) 2000 Academic Press.